Variant report

Variant	rs6293
Chromosome Location	chr9:140051238-140051239
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:140051003-140051454	MCF-7	breast:	n/a	n/a
2	CHD2	chr9:140051117-140051466	GM12878	blood:	n/a	n/a
3	POLR2A	chr9:140051217-140051581	GM19099	blood:	n/a	n/a
4	FOXM1	chr9:140051237-140051517	GM12878	blood:	n/a	n/a
5	EGR1	chr9:140051226-140051874	K562	blood:	n/a	n/a
6	MXI1	chr9:140051000-140051629	IMR90	lung:	n/a	n/a
7	GABPA	chr9:140050813-140051314	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAZ	chr9:140050984-140051903	IMR90	lung:	n/a	n/a
9	CHD2	chr9:140051110-140051310	H1-hESC	embryonic stem cell:	n/a	n/a
10	GABPA	chr9:140050870-140051503	H1-hESC	embryonic stem cell:	n/a	n/a
11	ZBTB7A	chr9:140051090-140051807	K562	blood:	n/a	n/a
12	POLR2A	chr9:140050971-140051555	GM18526	blood:	n/a	n/a
13	HDAC2	chr9:140051227-140051444	K562	blood:	n/a	n/a
14	ZNF263	chr9:140050959-140051412	HEK293-T-REx	kidney:	n/a	chr9:140051042-140051051
15	MAZ	chr9:140051112-140051858	GM12878	blood:	n/a	n/a
16	RCOR1	chr9:140051211-140051572	K562	blood:	n/a	n/a
17	NRF1	chr9:140051154-140051509	GM12878	blood:	n/a	n/a
18	SP1	chr9:140051021-140051781	H1-hESC	embryonic stem cell:	n/a	n/a
19	SP4	chr9:140051109-140051787	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAZ	chr9:140051234-140051877	K562	blood:	n/a	n/a
21	STAT1	chr9:140051232-140051712	GM12878	blood:	n/a	n/a
22	SIN3A	chr9:140051114-140051480	H1-hESC	embryonic stem cell:	n/a	n/a
23	HMGN3	chr9:140051190-140051704	K562	blood:	n/a	n/a
24	MAX	chr9:140051011-140051613	K562	blood:	n/a	n/a
25	BHLHE40	chr9:140051226-140051472	GM12878	blood:	n/a	n/a
26	SP4	chr9:140051132-140051703	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr9:140051058-140051501	GM12878	blood:	n/a	n/a
28	PML	chr9:140051003-140051382	GM12878	blood:	n/a	n/a
29	IRF1	chr9:140051226-140051876	K562	blood:	n/a	n/a
30	ELF1	chr9:140051028-140051596	GM12878	blood:	n/a	n/a
31	BACH1	chr9:140051059-140051407	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr9:140051190-140051249	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:140051205-140051255	HCF	heart:	n/a
2	chr9:140051205-140051255	NHDF-neo	bronchial:	n/a
3	chr9:140051205-140051255	H1-hESC	embryonic stem cell:	embryo
4	chr9:140051205-140051255	NH-A	brain:	n/a
5	chr9:140051205-140051255	T-47D	breast:	n/a
6	chr9:140051205-140051255	HAEpiC	amniotic membrane:	n/a
7	chr9:140051205-140051255	GM12892	blood:	n/a
8	chr9:140051205-140051255	K562	blood:	n/a
9	chr9:140051205-140051255	AG04449	skin:	fetal
10	chr9:140051205-140051255	MCF-7	breast:	n/a
11	chr9:140051205-140051255	HRCEpiC	kidney:	n/a
12	chr9:140051205-140051255	SK-N-SH_RA	brain:	n/a
13	chr9:140051205-140051255	PrEC	prostate:	n/a
14	chr9:140051205-140051255	HUVEC	blood vessel:	n/a
15	chr9:140051205-140051255	HPAEpiC	pulmonary alveolar:	n/a
16	chr9:140051205-140051255	RPTEC	kidney:	n/a
17	chr9:140051205-140051255	ECC-1	luminal epithelium:	n/a
18	chr9:140051205-140051255	AG10803	skin:	n/a
19	chr9:140051205-140051255	NB4	blood:	n/a
20	chr9:140051205-140051255	LNCaP	prostate:	n/a
21	chr9:140051205-140051255	HCT-116	colon:	n/a
22	chr9:140051205-140051255	GM12891	blood:	n/a
23	chr9:140051205-140051255	GM06990	blood:	n/a
24	chr9:140051205-140051255	ovcar-3	ovarian:	n/a
25	chr9:140051205-140051255	A549	lung:	n/a
26	chr9:140051205-140051255	HRPEpiC	eye:	n/a
27	chr9:140051205-140051255	HRE	kidney:	n/a
28	chr9:140051205-140051255	NT2-D1	testis:	n/a
29	chr9:140051205-140051255	HepG2	liver:	n/a
30	chr9:140051205-140051255	GM19239	blood:	n/a
31	chr9:140051205-140051255	HL-60	blood:	n/a
32	chr9:140051205-140051255	Hepatocyte	liver:	n/a
33	chr9:140051205-140051255	SAEC	small airway:	n/a
34	chr9:140051205-140051255	MCF10A-Er-Src	breast:	n/a
35	chr9:140051205-140051255	HIPEpiC	eye:	n/a
36	chr9:140051205-140051255	BE2_C	brain:	n/a
37	chr9:140051205-140051255	AG09319	gingival:	n/a
38	chr9:140051205-140051255	SK-N-SH	brain:	n/a
39	chr9:140051205-140051255	U87	brain:	n/a
40	chr9:140051205-140051255	HEK293	kidney:	embryo
41	chr9:140051205-140051255	SK-N-MC	brain:	n/a
42	chr9:140051205-140051255	AoSMC	blood vessel:	n/a
43	chr9:140051205-140051255	ProgFib	skin:	n/a
44	chr9:140051205-140051255	HNPCEpiC	eye:	n/a
45	chr9:140051205-140051255	PFSK-1	brain:	n/a
46	chr9:140051205-140051255	NHBE	bronchial:	n/a
47	chr9:140051205-140051255	GM12878	blood:	n/a
48	chr9:140051205-140051255	Hela-S3	cervix:	n/a
49	chr9:140051205-140051255	AG04450	lung:	fetal
50	chr9:140051205-140051255	Caco-2	colon:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140006864..140008712-chr9:140049551..140051651,2	K562	blood:
2	chr9:140049692..140051296-chr9:140051506..140053583,2	MCF-7	breast:
3	chr9:139946602..139948179-chr9:140050608..140052395,2	MCF-7	breast:
4	chr9:140050012..140052367-chr9:140055548..140058132,6	K562	blood:
5	chr9:139979148..139982071-chr9:140050756..140053105,2	MCF-7	breast:

No data

Variant related genes	Relation type
GRIN1	TF binding region
GRIN1	CpG island
ENSG00000268996	Chromatin interaction
ENSG00000176978	Chromatin interaction
ENSG00000177239	Chromatin interaction
ENSG00000176884	Chromatin interaction
ENSG00000236394	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10870180	1.00[CHD][hapmap]
rs1126442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11794201	0.96[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12115325	1.00[CHD][hapmap]
rs28469605	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28507734	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28514863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28548538	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28687864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28770882	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41290007	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4880090	1.00[CHD][hapmap]
rs4880215	1.00[ASN][1000 genomes]
rs7032504	1.00[ASN][1000 genomes]
rs73571550	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:79 , 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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	nsv894556	chr9:139904037-140408904	Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
38	nsv894559	chr9:139906359-140094605	Strong transcription Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS 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	106 gene(s)	inside rSNPs	diseases
39	nsv894560	chr9:139906359-140135118	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
40	nsv894561	chr9:139906359-140143801	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	252 gene(s)	inside rSNPs	diseases
41	nsv894562	chr9:139906359-140382705	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	307 gene(s)	inside rSNPs	diseases
42	nsv894563	chr9:139906359-140408904	Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
43	nsv894564	chr9:139906359-140432318	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
44	nsv1044451	chr9:139910406-140292556	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
45	esv2761561	chr9:139924637-140086045	Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	95 gene(s)	inside rSNPs	diseases
46	nsv894569	chr9:139926402-140118448	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	123 gene(s)	inside rSNPs	diseases
47	nsv894571	chr9:139929435-140135118	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription 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	154 gene(s)	inside rSNPs	diseases
48	nsv616005	chr9:139930945-140068342	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	86 gene(s)	inside rSNPs	diseases
49	nsv894572	chr9:139934020-140135118	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
50	nsv894573	chr9:139934020-140218978	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh 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	279 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6293	C9orf140	cis	multi-tissue	Pritchard
rs6293	UAP1L1	cis	multi-tissue	Pritchard

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140033600-140054400	Weak transcription	Right Atrium	heart
2	chr9:140050600-140052200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr9:140050600-140053000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:140050800-140051400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
5	chr9:140050800-140051400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr9:140050800-140051400	Enhancers	Lung	lung
7	chr9:140050800-140051600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
8	chr9:140050800-140051600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr9:140050800-140051600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:140050800-140051600	Bivalent Enhancer	Brain Angular Gyrus	brain
11	chr9:140050800-140051600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr9:140050800-140051800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr9:140050800-140051800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:140050800-140051800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:140050800-140052000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr9:140050800-140052000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr9:140050800-140052400	Bivalent Enhancer	Placenta	Placenta
18	chr9:140050800-140052600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
19	chr9:140050800-140053600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr9:140050800-140054200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:140051000-140051400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr9:140051000-140051400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr9:140051000-140051400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr9:140051000-140051400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:140051000-140051400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:140051000-140051400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr9:140051000-140051400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr9:140051000-140051400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr9:140051000-140051400	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr9:140051000-140051400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:140051000-140051400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
32	chr9:140051000-140051400	Bivalent Enhancer	Adipose Nuclei	Adipose
33	chr9:140051000-140051400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
34	chr9:140051000-140051400	Bivalent Enhancer	Fetal Intestine Small	intestine
35	chr9:140051000-140051400	Bivalent Enhancer	Left Ventricle	heart
36	chr9:140051000-140051400	Bivalent Enhancer	Ovary	ovary
37	chr9:140051000-140051400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
38	chr9:140051000-140051400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
39	chr9:140051000-140051400	Bivalent/Poised TSS	HepG2	liver
40	chr9:140051000-140051400	Bivalent Enhancer	HMEC	breast
41	chr9:140051000-140051400	Flanking Bivalent TSS/Enh	NHEK	skin
42	chr9:140051000-140051600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
43	chr9:140051000-140051600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:140051000-140051600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:140051000-140051600	Bivalent Enhancer	Primary B cells from cord blood	blood
46	chr9:140051000-140051600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
47	chr9:140051000-140051600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
48	chr9:140051000-140051600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
49	chr9:140051000-140051600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr9:140051000-140051600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin

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