Variant report

Variant	rs1018330
Chromosome Location	chr9:139980385-139980386
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:139978872-139982281	SK-N-MC	brain:	n/a	n/a
2	RUNX3	chr9:139979957-139980722	GM12878	blood:	n/a	n/a
3	POLR2A	chr9:139980130-139980493	HCT-116	colon:	n/a	n/a
4	POLR2A	chr9:139979760-139981840	Hela-S3	cervix:	n/a	n/a
5	YY1	chr9:139980337-139982032	SK-N-SH	brain:	n/a	chr9:139981830-139981841 chr9:139981707-139981721 chr9:139981774-139981788 chr9:139980582-139980590 chr9:139981712-139981721 chr9:139981701-139981712
6	ZNF384	chr9:139979490-139981425	K562	blood:	n/a	n/a
7	POLR2A	chr9:139980165-139982135	GM18505	blood:	n/a	n/a
8	POLR2A	chr9:139980186-139981677	Hela-S3	cervix:	n/a	n/a
9	YY1	chr9:139980323-139981725	GM12892	blood:	n/a	chr9:139981707-139981721 chr9:139980582-139980590 chr9:139981712-139981721 chr9:139981701-139981712
10	MYBL2	chr9:139980094-139980551	HepG2	liver:	n/a	n/a
11	JUN	chr9:139979589-139982534	K562	blood:	n/a	chr9:139982490-139982502
12	POLR2A	chr9:139980306-139982154	GM18951	blood:	n/a	n/a
13	ZKSCAN1	chr9:139980243-139980592	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr9:139979479-139981905	PFSK-1	brain:	n/a	n/a
15	MAX	chr9:139980139-139981858	ECC-1	luminal epithelium:	n/a	chr9:139980381-139980390 chr9:139980380-139980391 chr9:139980382-139980389 chr9:139980889-139980898 chr9:139980381-139980391 chr9:139980380-139980390 chr9:139981167-139981177 chr9:139981167-139981176 chr9:139980381-139980390 chr9:139981167-139981178 chr9:139980380-139980391 chr9:139981166-139981176 chr9:139981167-139981178 chr9:139981167-139981178 chr9:139981168-139981177 chr9:139980380-139980391
16	MTA3	chr9:139979476-139982281	GM12878	blood:	n/a	n/a
17	POLR2A	chr9:139980093-139981663	HepG2	liver:	n/a	n/a
18	POLR2A	chr9:139979970-139981850	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr9:139980084-139982221	NB4	blood:	n/a	n/a
20	HCFC1	chr9:139979501-139982958	Hela-S3	cervix:	n/a	n/a
21	MYC	chr9:139980361-139982328	K562	blood:	n/a	chr9:139980381-139980390 chr9:139980380-139980391 chr9:139980382-139980389 chr9:139980889-139980898 chr9:139980381-139980391 chr9:139980380-139980390 chr9:139981167-139981177 chr9:139981167-139981176 chr9:139980381-139980390 chr9:139981167-139981178 chr9:139980380-139980391 chr9:139981166-139981176 chr9:139981167-139981178 chr9:139981167-139981178 chr9:139981168-139981177 chr9:139980380-139980391 chr9:139982092-139982102
22	TFAP2A	chr9:139980277-139981606	Hela-S3	cervix:	n/a	chr9:139981196-139981206 chr9:139980774-139980782 chr9:139980963-139980974 chr9:139980774-139980782 chr9:139981194-139981208 chr9:139980963-139980974 chr9:139980552-139980566 chr9:139980468-139980479 chr9:139981196-139981206 chr9:139980468-139980479 chr9:139981194-139981206 chr9:139980774-139980782 chr9:139981196-139981206
23	RCOR1	chr9:139980138-139982311	GM12878	blood:	n/a	n/a
24	HEY1	chr9:139980088-139980733	HepG2	liver:	n/a	n/a
25	POLR2A	chr9:139980156-139981696	GM12891	blood:	n/a	n/a
26	POLR2A	chr9:139980234-139982136	MCF-7	breast:	n/a	n/a
27	POLR2A	chr9:139980330-139981750	A549	lung:	n/a	n/a
28	PAX5	chr9:139980324-139980714	GM12892	blood:	n/a	n/a
29	POLR2A	chr9:139980259-139981764	K562	blood:	n/a	n/a
30	POLR2A	chr9:139979937-139982126	GM12878	blood:	n/a	n/a
31	TAF1	chr9:139980307-139981914	HepG2	liver:	n/a	n/a
32	MAX	chr9:139980156-139981632	Hela-S3	cervix:	n/a	chr9:139980381-139980390 chr9:139980380-139980391 chr9:139980382-139980389 chr9:139980889-139980898 chr9:139980381-139980391 chr9:139980380-139980390 chr9:139981167-139981177 chr9:139981167-139981176 chr9:139980381-139980390 chr9:139981167-139981178 chr9:139980380-139980391 chr9:139981166-139981176 chr9:139981167-139981178 chr9:139981167-139981178 chr9:139981168-139981177 chr9:139980380-139980391
33	POLR2A	chr9:139980093-139982178	MCF-7	breast:	n/a	n/a
34	RCOR1	chr9:139980151-139980623	K562	blood:	n/a	n/a
35	TCF7L2	chr9:139980331-139981539	HCT-116	colon:	n/a	n/a
36	POLR2A	chr9:139979093-139982369	K562	blood:	n/a	n/a
37	POLR2A	chr9:139978910-139981788	U87	brain:	n/a	n/a
38	POLR2A	chr9:139980277-139981695	HUVEC	blood vessel:	n/a	n/a
39	MXI1	chr9:139980329-139981788	HepG2	liver:	n/a	chr9:139981221-139981236 chr9:139981167-139981176 chr9:139980380-139980389
40	POLR2A	chr9:139980248-139982018	GM19193	blood:	n/a	n/a
41	USF2	chr9:139979609-139980583	Hela-S3	cervix:	n/a	chr9:139980379-139980390
42	POLR2A	chr9:139980291-139981792	K562	blood:	n/a	n/a
43	POLR2A	chr9:139978847-139981727	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr9:139980247-139981925	GM12878	blood:	n/a	n/a
45	MAX	chr9:139979952-139981906	A549	lung:	n/a	chr9:139980381-139980390 chr9:139980380-139980391 chr9:139980382-139980389 chr9:139980889-139980898 chr9:139980381-139980391 chr9:139980380-139980390 chr9:139981167-139981177 chr9:139981167-139981176 chr9:139980381-139980390 chr9:139981167-139981178 chr9:139980380-139980391 chr9:139981166-139981176 chr9:139981167-139981178 chr9:139981167-139981178 chr9:139981168-139981177 chr9:139980380-139980391
46	MAZ	chr9:139980382-139981645	Hela-S3	cervix:	n/a	chr9:139980382-139980389 chr9:139980889-139980898 chr9:139981167-139981177 chr9:139981167-139981176 chr9:139981167-139981178 chr9:139981167-139981178 chr9:139981167-139981178 chr9:139981168-139981177
47	POLR2A	chr9:139980237-139982252	PBDE	blood:	n/a	n/a
48	POLR2A	chr9:139980052-139981289	GM12878	blood:	n/a	n/a
49	HEY1	chr9:139980207-139980588	HepG2	liver:	n/a	n/a
50	MXI1	chr9:139979911-139982540	SK-N-SH	brain:	n/a	chr9:139981221-139981236 chr9:139981167-139981176 chr9:139980380-139980389

No.	Distal block	Cell Line	Cell type
1	chr9:139978186..139981401-chr9:140080781..140084573,5	MCF-7	breast:
2	chr9:139979812..139982069-chr9:140089505..140091376,2	MCF-7	breast:
3	chr9:139979953..139982943-chr9:140148300..140149854,2	MCF-7	breast:
4	chr9:139959442..139968160-chr9:139974620..139981984,14	K562	blood:
5	chr9:139979168..139980805-chr9:140085888..140087760,2	MCF-7	breast:
6	chr9:139889162..139891351-chr9:139979563..139981376,2	MCF-7	breast:
7	chr9:139920279..139925059-chr9:139978182..139982194,5	MCF-7	breast:
8	chr9:139980141..139982079-chr9:140093355..140095855,3	MCF-7	breast:
9	chr9:139740893..139744772-chr9:139977381..139980578,4	K562	blood:
10	chr9:139622060..139624419-chr9:139980313..139982424,2	K562	blood:
11	chr3:12598319..12599149-chr9:139979927..139980805,2	Hela-S3	cervix:
12	chr9:139621146..139622893-chr9:139980116..139982904,2	K562	blood:
13	chr9:139979340..139983315-chr9:140006242..140009946,7	K562	blood:
14	chr9:139979578..139982108-chr9:140060574..140063297,2	MCF-7	breast:
15	chr9:139964472..139965299-chr9:139980224..139981540,3	Hela-S3	cervix:
16	chr9:139977747..139980955-chr9:140062254..140064779,3	MCF-7	breast:
17	chr9:139740209..139743160-chr9:139977902..139980891,3	MCF-7	breast:
18	chr9:139978705..139985965-chr9:140004535..140011196,17	MCF-7	breast:
19	chr9:139935230..139939523-chr9:139979117..139982654,3	K562	blood:
20	chr9:139938587..139945189-chr9:139976684..139982680,14	MCF-7	breast:
21	chr9:139979217..139982968-chr9:140130784..140138120,12	K562	blood:
22	chr9:139979148..139982071-chr9:140050756..140053105,2	MCF-7	breast:
23	chr9:139945464..139950452-chr9:139979490..139982063,5	MCF-7	breast:
24	chr9:139976678..139982959-chr9:140133062..140138076,10	K562	blood:
25	chr9:139980094..139982437-chr9:139998327..140000018,2	K562	blood:
26	chr9:139979223..139981323-chr9:140116227..140119584,4	K562	blood:
27	chr9:139979838..139983602-chr9:140093093..140096607,4	MCF-7	breast:
28	chr9:139978974..139982558-chr9:140133335..140136372,4	MCF-7	breast:
29	chr9:139887009..139891306-chr9:139978318..139981819,5	MCF-7	breast:
30	chr9:139973218..139984066-chr9:140109898..140123246,33	MCF-7	breast:
31	chr9:139920639..139922633-chr9:139979373..139980971,2	MCF-7	breast:
32	chr9:139886682..139889042-chr9:139978841..139981115,2	K562	blood:
33	chr9:139979763..139981414-chr9:140352463..140355092,2	K562	blood:
34	chr9:139980364..139982895-chr9:139994247..139997244,3	MCF-7	breast:
35	chr8:146011251..146013601-chr9:139979216..139981658,2	K562	blood:
36	chr9:139979404..139984708-chr9:140006242..140011845,8	K562	blood:
37	chr9:139943336..139945648-chr9:139978828..139980967,2	K562	blood:
38	chr9:139979737..139981781-chr9:140123647..140125590,2	MCF-7	breast:
39	chr9:139938222..139943243-chr9:139978995..139981803,4	MCF-7	breast:
40	chr9:139978059..139980996-chr9:140136808..140138397,2	MCF-7	breast:
41	chr9:139980253..139981853-chr9:140069761..140072749,2	MCF-7	breast:
42	chr9:139978814..139983525-chr9:140133677..140136701,7	MCF-7	breast:
43	chr20:49371934..49374694-chr9:139977765..139980649,2	MCF-7	breast:
44	chr3:160282569..160283428-chr9:139980338..139981047,2	Hela-S3	cervix:

Variant related genes	Relation type
MAN1B1	TF binding region
ENSG00000165802	Chromatin interaction
ENSG00000148362	Chromatin interaction
ENSG00000229320	Chromatin interaction
ENSG00000107281	Chromatin interaction
ENSG00000176978	Chromatin interaction
ENSG00000186432	Chromatin interaction
ENSG00000186193	Chromatin interaction
ENSG00000107331	Chromatin interaction
ENSG00000176884	Chromatin interaction
ENSG00000196378	Chromatin interaction
ENSG00000177239	Chromatin interaction
ENSG00000176101	Chromatin interaction
ENSG00000184709	Chromatin interaction
ENSG00000236394	Chromatin interaction
ENSG00000212864	Chromatin interaction
ENSG00000054148	Chromatin interaction
ENSG00000233016	Chromatin interaction
ENSG00000197191	Chromatin interaction
ENSG00000180539	Chromatin interaction
ENSG00000176058	Chromatin interaction
ENSG00000054179	Chromatin interaction
ENSG00000188986	Chromatin interaction
ENSG00000169583	Chromatin interaction
ENSG00000075975	Chromatin interaction
ENSG00000263697	Chromatin interaction
ENSG00000233198	Chromatin interaction
ENSG00000176248	Chromatin interaction
ENSG00000198569	Chromatin interaction
ENSG00000188229	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10118245	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3750518	0.83[MEX][hapmap]
rs7390710	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7466635	0.94[ASW][hapmap];0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7848423	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7853336	0.83[TSI][hapmap]
rs9411307	0.87[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469918	chr9:139254317-140068342	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
2	nsv540346	chr9:139360142-140164011	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	471 gene(s)	inside rSNPs	diseases
3	nsv1039149	chr9:139376829-139991102	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	303 gene(s)	inside rSNPs	diseases
4	esv1821575	chr9:139395473-140068342	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
5	esv2422220	chr9:139478587-140244550	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	454 gene(s)	inside rSNPs	diseases
6	nsv894442	chr9:139544437-140462099	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
7	nsv894451	chr9:139598108-139995065	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	200 gene(s)	inside rSNPs	diseases
8	nsv894452	chr9:139598108-140523429	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
9	nsv894455	chr9:139607966-140411547	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	417 gene(s)	inside rSNPs	diseases
10	nsv894462	chr9:139683224-140274164	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	353 gene(s)	inside rSNPs	diseases
11	nsv894463	chr9:139683224-140411547	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
12	nsv524322	chr9:139690144-140376668	Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	371 gene(s)	inside rSNPs	diseases
13	nsv894469	chr9:139693992-140118448	Bivalent Enhancer Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	200 gene(s)	inside rSNPs	diseases
14	nsv894470	chr9:139693992-140339091	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	358 gene(s)	inside rSNPs	diseases
15	nsv894474	chr9:139694521-140432318	Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
16	nsv540352	chr9:139695108-140351178	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	358 gene(s)	inside rSNPs	diseases
17	nsv894484	chr9:139709976-140382705	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	360 gene(s)	inside rSNPs	diseases
18	nsv894485	chr9:139709976-140408904	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
19	nsv894486	chr9:139725120-140382705	Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	359 gene(s)	inside rSNPs	diseases
20	nsv894487	chr9:139725120-140449582	Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
21	esv1803771	chr9:139776400-140274255	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
22	nsv894498	chr9:139810595-140339091	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	324 gene(s)	inside rSNPs	diseases
23	nsv894499	chr9:139810595-140734161	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
24	esv1823828	chr9:139820363-140023694	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	121 gene(s)	inside rSNPs	diseases
25	esv1822764	chr9:139822266-140202692	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	313 gene(s)	inside rSNPs	diseases
26	nsv894501	chr9:139823670-140400275	Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
27	nsv894502	chr9:139823670-140487108	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
28	nsv894503	chr9:139830940-139987350	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
29	esv1834381	chr9:139834195-140031290	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	125 gene(s)	inside rSNPs	diseases
30	esv1823555	chr9:139834714-140362439	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
31	nsv894506	chr9:139841512-140143801	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	278 gene(s)	inside rSNPs	diseases
32	nsv894507	chr9:139860264-139995065	Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
33	nsv894518	chr9:139860631-139995065	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
34	nsv466690	chr9:139860631-140042320	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	117 gene(s)	inside rSNPs	diseases
35	nsv615989	chr9:139860631-140042320	Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	117 gene(s)	inside rSNPs	diseases
36	nsv615990	chr9:139860631-140068342	Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	118 gene(s)	inside rSNPs	diseases
37	nsv894519	chr9:139860631-140123584	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	161 gene(s)	inside rSNPs	diseases
38	nsv894520	chr9:139860631-140135118	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	185 gene(s)	inside rSNPs	diseases
39	nsv894521	chr9:139860631-140228092	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	308 gene(s)	inside rSNPs	diseases
40	nsv894522	chr9:139860631-140411547	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
41	nsv894523	chr9:139860631-140462099	Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
42	nsv1053902	chr9:139876167-139991102	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
43	nsv894547	chr9:139877698-139982868	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
44	nsv894549	chr9:139879170-139995065	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
45	nsv894550	chr9:139879170-140039240	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	115 gene(s)	inside rSNPs	diseases
46	nsv894551	chr9:139879170-140118448	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	152 gene(s)	inside rSNPs	diseases
47	nsv894552	chr9:139879170-140135118	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	183 gene(s)	inside rSNPs	diseases
48	nsv894553	chr9:139879170-140318758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	313 gene(s)	inside rSNPs	diseases
49	nsv894554	chr9:139879170-140339091	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	313 gene(s)	inside rSNPs	diseases
50	nsv894555	chr9:139892369-139980385	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1018330	SSNA1	cis	cerebellum	SCAN
rs1018330	C9orf140	cis	multi-tissue	Pritchard
rs1018330	UAP1L1	cis	multi-tissue	Pritchard
rs1018330	TRAF2	cis	cerebellum	SCAN
rs1018330	ADAMTS13	cis	cerebellum	SCAN
rs1018330	UAP1L1	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139973000-139980400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:139974200-139980400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:139977200-139980400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr9:139977800-139980400	Enhancers	Esophagus	oesophagus
5	chr9:139979600-139980800	Flanking Active TSS	Hela-S3	cervix
6	chr9:139979800-139980400	Enhancers	Primary hematopoietic stem cells	blood
7	chr9:139979800-139980400	Enhancers	Gastric	stomach
8	chr9:139979800-139980400	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr9:139980000-139980400	Enhancers	Liver	Liver
10	chr9:139980000-139980400	Enhancers	Small Intestine	intestine
11	chr9:139980000-139980400	Flanking Active TSS	A549	lung
12	chr9:139980000-139980400	Flanking Active TSS	HepG2	liver
13	chr9:139980000-139980600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr9:139980000-139980600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr9:139980000-139980600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:139980000-139980600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:139980000-139980600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr9:139980000-139980600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr9:139980000-139980600	Flanking Active TSS	GM12878-XiMat	blood
20	chr9:139980000-139980600	Flanking Active TSS	HSMMtube	muscle
21	chr9:139980000-139980600	Flanking Active TSS	K562	blood
22	chr9:139980000-139980800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr9:139980000-139980800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:139980000-139980800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:139980000-139980800	Flanking Active TSS	Osteobl	bone
26	chr9:139980000-139981000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr9:139980000-139981000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:139980000-139981000	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr9:139980000-139981200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr9:139980000-139981200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr9:139980200-139980400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:139980200-139980400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:139980200-139980400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr9:139980200-139980400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
35	chr9:139980200-139980400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr9:139980200-139980400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr9:139980200-139980400	Enhancers	Aorta	Aorta
38	chr9:139980200-139980400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
39	chr9:139980200-139980400	Enhancers	Ovary	ovary
40	chr9:139980200-139980400	Enhancers	Pancreas	Pancrea
41	chr9:139980200-139980400	Enhancers	Right Atrium	heart
42	chr9:139980200-139980400	Bivalent/Poised TSS	Thymus	Thymus
43	chr9:139980200-139980400	Flanking Active TSS	HSMM	muscle
44	chr9:139980200-139980600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
45	chr9:139980200-139980600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:139980200-139980600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr9:139980200-139980600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr9:139980200-139980600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
49	chr9:139980200-139980600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr9:139980200-139980600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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