Variant report

Variant	rs7040705
Chromosome Location	chr9:139836362-139836363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:139833359-139838737	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr9:139833343-139840280	K562	blood:	n/a	n/a
3	POLR2A	chr9:139836142-139836416	GM12878	blood:	n/a	n/a
4	POLR2A	chr9:139833668-139839561	HL-60	blood:	n/a	n/a
5	POLR2A	chr9:139833514-139837393	K562	blood:	n/a	n/a
6	POLR2A	chr9:139833763-139839430	A549	lung:	n/a	n/a
7	POLR2A	chr9:139833430-139839515	K562	blood:	n/a	n/a
8	POLR2A	chr9:139833575-139836827	HL-60	blood:	n/a	n/a
9	POLR2A	chr9:139833791-139836372	GM12878	blood:	n/a	n/a
10	POLR2A	chr9:139833509-139836508	A549	lung:	n/a	n/a
11	POLR2A	chr9:139833485-139839342	GM12878	blood:	n/a	n/a
12	POLR2A	chr9:139835616-139837641	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr9:139836345-139836471	HepG2	liver:	n/a	n/a
14	POLR2A	chr9:139835693-139836433	MCF-7	breast:	n/a	n/a
15	POLR2A	chr9:139836341-139836537	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr9:139836362-139836428	GM12878	blood:	n/a	n/a
17	POLR2A	chr9:139835620-139836388	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr9:139833327-139836813	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr9:139836223-139836517	HepG2	liver:	n/a	n/a
20	POLR2A	chr9:139834219-139836881	K562	blood:	n/a	n/a
21	POLR2A	chr9:139836313-139836602	GM12891	blood:	n/a	n/a
22	POLR2A	chr9:139833822-139836363	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:139836323-139836373	LNCaP	prostate:	n/a
2	chr9:139836323-139836373	HL-60	blood:	n/a
3	chr9:139836323-139836373	GM12892	blood:	n/a
4	chr9:139836323-139836373	NHBE	bronchial:	n/a
5	chr9:139836323-139836373	MCF-7	breast:	n/a
6	chr9:139836323-139836373	AoSMC	blood vessel:	n/a
7	chr9:139836323-139836373	MCF10A-Er-Src	breast:	n/a
8	chr9:139836323-139836373	HepG2	liver:	n/a
9	chr9:139836323-139836373	A549	lung:	n/a
10	chr9:139836323-139836373	HCT-116	colon:	n/a
11	chr9:139836323-139836373	RPTEC	kidney:	n/a
12	chr9:139836323-139836373	HRPEpiC	eye:	n/a
13	chr9:139836323-139836373	PFSK-1	brain:	n/a
14	chr9:139836323-139836373	SK-N-SH	brain:	n/a
15	chr9:139836323-139836373	CMK	blood:	n/a
16	chr9:139836323-139836373	NH-A	brain:	n/a
17	chr9:139836323-139836373	HCF	heart:	n/a
18	chr9:139836323-139836373	HEK293	kidney:	embryo
19	chr9:139836323-139836373	H1-hESC	embryonic stem cell:	embryo
20	chr9:139836323-139836373	NT2-D1	testis:	n/a
21	chr9:139836323-139836373	AG10803	skin:	n/a
22	chr9:139836323-139836373	HCPEpiC	choroid plexus:	n/a
23	chr9:139836323-139836373	SKMC	muscle:	n/a
24	chr9:139836323-139836373	BJ	skin:	n/a
25	chr9:139836323-139836373	BE2_C	brain:	n/a
26	chr9:139836323-139836373	HRE	kidney:	n/a
27	chr9:139836323-139836373	GM12878	blood:	n/a
28	chr9:139836323-139836373	ProgFib	skin:	n/a
29	chr9:139836323-139836373	AG04449	skin:	fetal
30	chr9:139836323-139836373	IMR90	lung:	fetal
31	chr9:139836323-139836373	GM19239	blood:	n/a
32	chr9:139836323-139836373	SK-N-MC	brain:	n/a
33	chr9:139836323-139836373	HMEC	breast:	n/a
34	chr9:139836323-139836373	U87	brain:	n/a
35	chr9:139836323-139836373	PANC-1	pancreas:	n/a
36	chr9:139836323-139836373	AG04450	lung:	fetal
37	chr9:139836323-139836373	HUVEC	blood vessel:	n/a
38	chr9:139836323-139836373	AG09309	skin:	n/a
39	chr9:139836323-139836373	Hepatocyte	liver:	n/a
40	chr9:139836323-139836373	NHDF-neo	bronchial:	n/a
41	chr9:139836323-139836373	NB4	blood:	n/a
42	chr9:139836323-139836373	HCM	heart:	n/a
43	chr9:139836323-139836373	HRCEpiC	kidney:	n/a
44	chr9:139836323-139836373	Hela-S3	cervix:	n/a
45	chr9:139836323-139836373	PrEC	prostate:	n/a
46	chr9:139836323-139836373	SK-N-SH_RA	brain:	n/a
47	chr9:139836323-139836373	HPAEpiC	pulmonary alveolar:	n/a
48	chr9:139836323-139836373	HNPCEpiC	eye:	n/a
49	chr9:139836323-139836373	HIPEpiC	eye:	n/a
50	chr9:139836323-139836373	ovcar-3	ovarian:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:139755063..139757195-chr9:139834664..139836804,2	K562	blood:
2	chr9:139581042..139582796-chr9:139835753..139837526,2	K562	blood:
3	chr9:139778379..139782493-chr9:139835538..139841683,7	K562	blood:
4	chr9:139834772..139837352-chr9:139938256..139940469,2	MCF-7	breast:
5	chr9:139775744..139785357-chr9:139834831..139843301,18	MCF-7	breast:
6	chr9:139835735..139837348-chr9:139913162..139915924,2	K562	blood:
7	chr9:139836105..139846821-chr9:139919094..139924819,24	MCF-7	breast:
8	chr9:139790926..139800327-chr9:139835284..139840384,15	MCF-7	breast:
9	chr9:139738593..139754524-chr9:139832961..139844322,29	MCF-7	breast:
10	chr9:139741905..139746962-chr9:139835280..139841074,9	K562	blood:
11	chr9:139834936..139840862-chr9:139842314..139844588,8	K562	blood:
12	chr9:139836188..139848313-chr9:139883522..139894647,40	MCF-7	breast:
13	chr9:139833776..139836708-chr9:139890446..139893383,3	K562	blood:
14	chr9:139793983..139795887-chr9:139835494..139837076,2	MCF-7	breast:
15	chr9:139835281..139842012-chr9:139842308..139848601,13	K562	blood:
16	chr9:139760778..139763207-chr9:139834767..139836838,2	K562	blood:
17	chr9:139758990..139764783-chr9:139834742..139840758,9	MCF-7	breast:
18	chr9:139737965..139740810-chr9:139834289..139836392,2	K562	blood:
19	chr9:139734155..139746957-chr9:139834710..139842618,30	MCF-7	breast:
20	chr9:139835527..139839374-chr9:139921629..139923901,3	K562	blood:
21	chr9:139835507..139852162-chr9:139884980..139895056,54	MCF-7	breast:

No data

Variant related genes	Relation type
C8G	TF binding region
ENSG00000260190	TF binding region
ENSG00000260190	CpG island
C8G	CpG island
ENSG00000177943	Chromatin interaction
ENSG00000180539	Chromatin interaction
ENSG00000107223	Chromatin interaction
ENSG00000148362	Chromatin interaction
ENSG00000169692	Chromatin interaction
ENSG00000266507	Chromatin interaction
ENSG00000107281	Chromatin interaction
ENSG00000232434	Chromatin interaction
ENSG00000184925	Chromatin interaction
ENSG00000107331	Chromatin interaction
ENSG00000054148	Chromatin interaction
ENSG00000127191	Chromatin interaction
ENSG00000169583	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10115595	0.88[CEU][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap]
rs10116414	0.88[CEU][hapmap];0.84[GIH][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10781522	0.82[ASW][hapmap]
rs2071006	0.88[ASW][hapmap];0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2271872	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28578007	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6560652	0.88[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs7045803	0.84[EUR][1000 genomes]
rs7862602	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv540342	chr9:139218422-139973312	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	317 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv1803979	chr9:139395473-139979276	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	267 gene(s)	inside rSNPs	diseases
6	esv1831778	chr9:139395473-139979276	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	267 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv894409	chr9:139483954-139860264	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	209 gene(s)	inside rSNPs	diseases
10	nsv894432	chr9:139522101-139869914	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	205 gene(s)	inside rSNPs	diseases
11	nsv894440	chr9:139544437-139841512	Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
12	nsv894441	chr9:139544437-139860264	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
13	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
14	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
15	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
16	nsv894454	chr9:139607966-139904037	Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	172 gene(s)	inside rSNPs	diseases
17	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
18	nsv818738	chr9:139634495-139904037	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	126 gene(s)	inside rSNPs	diseases
19	nsv894461	chr9:139683224-139860264	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
20	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
21	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
22	esv1846327	chr9:139690144-139841512	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	86 gene(s)	inside rSNPs	diseases
23	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
24	nsv894468	chr9:139693992-139860264	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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 miRNA	92 gene(s)	inside rSNPs	diseases
25	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
26	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
27	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
28	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
29	nsv894482	chr9:139709976-139860264	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	78 gene(s)	inside rSNPs	diseases
30	nsv894483	chr9:139709976-139963091	Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	119 gene(s)	inside rSNPs	diseases
31	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
32	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
33	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
34	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
35	nsv1047479	chr9:139754184-139869440	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	60 gene(s)	inside rSNPs	diseases
36	nsv540353	chr9:139754184-139869440	Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	60 gene(s)	inside rSNPs	diseases
37	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
38	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
39	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
40	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
41	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
42	nsv894500	chr9:139823670-139930945	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	85 gene(s)	inside rSNPs	diseases
43	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
44	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
45	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
46	esv997310	chr9:139831296-139837698	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
47	nsv894504	chr9:139831696-139844151	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
48	nsv894505	chr9:139831696-139848717	Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
49	nsv615987	chr9:139834195-139842262	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	38 gene(s)	inside rSNPs	diseases
50	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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7040705	LCN8	cis	cerebellum	SCAN
rs7040705	LCNL1	cis	parietal	SCAN
rs7040705	PHPT1	cis	cerebellum	SCAN
rs7040705	MAMDC4	cis	cerebellum	SCAN
rs7040705	C9orf142	cis	cerebellum	SCAN
rs7040705	C9orf142	cis	parietal	SCAN
rs7040705	COL5A1	cis	cerebellum	SCAN
rs7040705	SARDH	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139782200-139837000	Weak transcription	Fetal Brain Male	brain
2	chr9:139797800-139837400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:139815000-139838200	Weak transcription	Fetal Kidney	kidney
4	chr9:139815800-139837200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr9:139817000-139838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:139822600-139837200	Weak transcription	NH-A	brain
7	chr9:139822600-139837400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:139825200-139837600	Weak transcription	HSMMtube	muscle
9	chr9:139830000-139837000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr9:139831000-139836600	Strong transcription	Stomach Smooth Muscle	stomach
11	chr9:139831200-139837000	Strong transcription	Brain Germinal Matrix	brain
12	chr9:139831200-139837400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:139831600-139837200	Strong transcription	Fetal Intestine Small	intestine
14	chr9:139831600-139837200	Strong transcription	Fetal Thymus	thymus
15	chr9:139831600-139837400	Strong transcription	Fetal Brain Female	brain
16	chr9:139831800-139837000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:139831800-139837000	Strong transcription	Fetal Muscle Leg	muscle
18	chr9:139831800-139837200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:139831800-139837200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr9:139831800-139837400	Strong transcription	Osteobl	bone
21	chr9:139832000-139836600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:139832000-139837200	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr9:139832200-139837200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:139832200-139837600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:139832400-139836400	Strong transcription	Thymus	Thymus
26	chr9:139832400-139837200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr9:139832400-139837600	Strong transcription	Fetal Lung	lung
28	chr9:139832600-139837400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr9:139832800-139837400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:139833200-139837000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:139833400-139836600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:139833400-139836800	Strong transcription	Placenta	Placenta
33	chr9:139833400-139837400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:139833400-139837400	Strong transcription	A549	lung
35	chr9:139833400-139837400	Strong transcription	NHEK	skin
36	chr9:139833600-139836400	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr9:139833600-139836800	Strong transcription	Hela-S3	cervix
38	chr9:139833600-139837000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr9:139833600-139837000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr9:139833600-139837000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr9:139833600-139837200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:139833600-139837200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr9:139833600-139837200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:139833600-139837200	Strong transcription	Primary T cells from cord blood	blood
45	chr9:139833600-139837200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr9:139833600-139837200	Strong transcription	Colon Smooth Muscle	Colon
47	chr9:139833600-139837200	Genic enhancers	Right Ventricle	heart
48	chr9:139833600-139837400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr9:139833600-139837400	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr9:139833600-139837400	Strong transcription	Aorta	Aorta

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