Variant report

Variant	rs10982317
Chromosome Location	chr9:117349653-117349654
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:334)
CpG islands
(count:61)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:334 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:117349007-117350832	SK-N-MC	brain:	n/a	n/a
2	YY1	chr9:117349505-117350393	A549	lung:	n/a	n/a
3	RAD21	chr9:117349632-117350392	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr9:117349474-117350516	GM12878	blood:	n/a	n/a
5	YY1	chr9:117349519-117350302	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD1	chr9:117349169-117352295	IMR90	lung:	n/a	chr9:117349924-117349934
7	NR2F2	chr9:117349507-117350208	K562	blood:	n/a	n/a
8	RUNX3	chr9:117349622-117350430	GM12878	blood:	n/a	n/a
9	POLR2A	chr9:117349500-117350960	H1-neurons	neurons:	n/a	n/a
10	TAF1	chr9:117349597-117350216	Hela-S3	cervix:	n/a	n/a
11	TAF1	chr9:117349435-117350575	A549	lung:	n/a	n/a
12	IRF1	chr9:117349634-117350259	K562	blood:	n/a	chr9:117349917-117349931 chr9:117349922-117349936
13	HCFC1	chr9:117349509-117350630	K562	blood:	n/a	n/a
14	USF2	chr9:117349543-117350233	HepG2	liver:	n/a	chr9:117349989-117349998 chr9:117349987-117349998 chr9:117349990-117349999 chr9:117349983-117350004 chr9:117349987-117350000 chr9:117349989-117349998 chr9:117349988-117349997
15	POLR2A	chr9:117349296-117350442	HEK293	kidney:	n/a	n/a
16	YY1	chr9:117349504-117350468	K562	blood:	n/a	n/a
17	POLR2A	chr9:117349644-117350292	A549	lung:	n/a	n/a
18	ELF1	chr9:117349593-117350192	A549	lung:	n/a	n/a
19	USF1	chr9:117349583-117350512	ECC-1	luminal epithelium:	n/a	chr9:117349989-117349998 chr9:117349990-117349999 chr9:117349983-117350004 chr9:117349987-117350000 chr9:117349989-117349998 chr9:117349988-117349997
20	POLR2A	chr9:117349414-117350356	K562	blood:	n/a	n/a
21	CHD2	chr9:117349643-117350366	GM12878	blood:	n/a	chr9:117349924-117349934
22	ZKSCAN1	chr9:117349630-117350299	Hela-S3	cervix:	n/a	n/a
23	USF1	chr9:117349578-117350441	A549	lung:	n/a	chr9:117349989-117349998 chr9:117349990-117349999 chr9:117349983-117350004 chr9:117349987-117350000 chr9:117349989-117349998 chr9:117349988-117349997
24	TAF1	chr9:117349610-117350313	GM12891	blood:	n/a	n/a
25	MBD4	chr9:117349489-117350229	HepG2	liver:	n/a	n/a
26	YY1	chr9:117349588-117349939	K562	blood:	n/a	n/a
27	ZBTB33	chr9:117349621-117350169	A549	lung:	n/a	n/a
28	CHD1	chr9:117349540-117350699	H1-hESC	embryonic stem cell:	n/a	chr9:117349924-117349934
29	HEY1	chr9:117349497-117350267	HepG2	liver:	n/a	n/a
30	STAT1	chr9:117349504-117350310	GM12878	blood:	n/a	chr9:117349921-117349933 chr9:117349916-117349928
31	RELA	chr9:117349464-117350345	GM15510	blood:	n/a	n/a
32	POLR2A	chr9:117349636-117350281	A549	lung:	n/a	n/a
33	TAF1	chr9:117349416-117350448	MCF-7	breast:	n/a	n/a
34	MAX	chr9:117349397-117350479	A549	lung:	n/a	chr9:117349987-117350000 chr9:117349989-117349998 chr9:117349989-117349998 chr9:117349987-117350000 chr9:117349989-117349998
35	POU2F2	chr9:117349547-117350379	GM12878	blood:	n/a	n/a
36	POLR2A	chr9:117349427-117350812	GM12878	blood:	n/a	n/a
37	TBP	chr9:117349627-117350298	GM12878	blood:	n/a	n/a
38	TAF7	chr9:117349589-117350334	H1-hESC	embryonic stem cell:	n/a	n/a
39	YY1	chr9:117349531-117350396	ECC-1	luminal epithelium:	n/a	n/a
40	STAT5A	chr9:117349503-117350444	GM12878	blood:	n/a	chr9:117349921-117349933 chr9:117349916-117349928
41	TBL1XR1	chr9:117349498-117350352	GM12878	blood:	n/a	n/a
42	YY1	chr9:117349534-117350344	HCT-116	colon:	n/a	n/a
43	POLR2A	chr9:117349434-117351462	K562	blood:	n/a	n/a
44	YY1	chr9:117349535-117350268	HepG2	liver:	n/a	n/a
45	USF1	chr9:117349548-117350360	K562	blood:	n/a	chr9:117349989-117349998 chr9:117349990-117349999 chr9:117349983-117350004 chr9:117349987-117350000 chr9:117349989-117349998 chr9:117349988-117349997
46	EP300	chr9:117349638-117350203	H1-hESC	embryonic stem cell:	n/a	n/a
47	UBTF	chr9:117349622-117350460	K562	blood:	n/a	n/a
48	POLR2A	chr9:117349356-117351283	PBDE	blood:	n/a	n/a
49	PML	chr9:117349508-117350352	MCF-7	breast:	n/a	n/a
50	SIN3AK20	chr9:117349582-117350348	PANC-1	pancreas:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:117349621-117349671	NT2-D1	testis:	n/a
2	chr9:117349621-117349671	LNCaP	prostate:	n/a
3	chr9:117349621-117349671	HEEpiC	esophagus:	n/a
4	chr9:117349621-117349671	ProgFib	skin:	n/a
5	chr9:117349621-117349671	NHBE	bronchial:	n/a
6	chr9:117349621-117349671	AG09309	skin:	n/a
7	chr9:117349621-117349671	HCF	heart:	n/a
8	chr9:117349621-117349671	NHDF-neo	bronchial:	n/a
9	chr9:117349621-117349671	HRE	kidney:	n/a
10	chr9:117349621-117349671	A549	lung:	n/a
11	chr9:117349621-117349671	MCF10A-Er-Src	breast:	n/a
12	chr9:117349621-117349671	HEK293	kidney:	embryo
13	chr9:117349621-117349671	HUVEC	blood vessel:	n/a
14	chr9:117349621-117349671	AG09319	gingival:	n/a
15	chr9:117349621-117349671	Hela-S3	cervix:	n/a
16	chr9:117349621-117349671	PFSK-1	brain:	n/a
17	chr9:117349621-117349671	SK-N-SH_RA	brain:	n/a
18	chr9:117349621-117349671	SAEC	small airway:	n/a
19	chr9:117349621-117349671	Caco-2	colon:	n/a
20	chr9:117349621-117349671	SK-N-MC	brain:	n/a
21	chr9:117349621-117349671	ECC-1	luminal epithelium:	n/a
22	chr9:117349621-117349671	HPAEpiC	pulmonary alveolar:	n/a
23	chr9:117349621-117349671	U87	brain:	n/a
24	chr9:117349621-117349671	HIPEpiC	eye:	n/a
25	chr9:117349621-117349671	HCT-116	colon:	n/a
26	chr9:117349621-117349671	BJ	skin:	n/a
27	chr9:117349621-117349671	K562	blood:	n/a
28	chr9:117349621-117349671	HAEpiC	amniotic membrane:	n/a
29	chr9:117349621-117349671	AoSMC	blood vessel:	n/a
30	chr9:117349621-117349671	PANC-1	pancreas:	n/a
31	chr9:117349621-117349671	GM12891	blood:	n/a
32	chr9:117349621-117349671	BE2_C	brain:	n/a
33	chr9:117349621-117349671	HepG2	liver:	n/a
34	chr9:117349621-117349671	AG04449	skin:	fetal
35	chr9:117349621-117349671	HCM	heart:	n/a
36	chr9:117349621-117349671	ovcar-3	ovarian:	n/a
37	chr9:117349621-117349671	NH-A	brain:	n/a
38	chr9:117349621-117349671	AG04450	lung:	fetal
39	chr9:117349621-117349671	GM06990	blood:	n/a
40	chr9:117349621-117349671	RPTEC	kidney:	n/a
41	chr9:117349621-117349671	PrEC	prostate:	n/a
42	chr9:117349621-117349671	SK-N-SH	brain:	n/a
43	chr9:117349621-117349671	T-47D	breast:	n/a
44	chr9:117349621-117349671	IMR90	lung:	fetal
45	chr9:117349621-117349671	GM12892	blood:	n/a
46	chr9:117349621-117349671	HL-60	blood:	n/a
47	chr9:117349621-117349671	Hepatocyte	liver:	n/a
48	chr9:117349621-117349671	Jurkat	blood:	n/a
49	chr9:117349621-117349671	GM12878	blood:	n/a
50	chr9:117349621-117349671	NB4	blood:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:117344187..117346251-chr9:117348380..117349949,2	K562	blood:
2	chr9:117333105..117337028-chr9:117348080..117351758,7	MCF-7	breast:
3	chr9:117346842..117352204-chr9:117370877..117374909,8	K562	blood:
4	chr14:75724992..75725778-chr9:117349421..117349955,2	Hela-S3	cervix:
5	chr9:117310558..117329379-chr9:117338511..117355772,81	MCF-7	breast:
6	chr3:114343388..114344052-chr9:117349360..117350171,2	Hela-S3	cervix:
7	chr9:117349294..117352043-chr9:117375229..117380114,4	MCF-7	breast:
8	chr9:117348207..117349836-chr9:117361324..117363712,2	K562	blood:
9	chr9:117265762..117270088-chr9:117348229..117352933,7	K562	blood:
10	chr9:117348104..117352194-chr9:117371141..117379325,14	K562	blood:
11	chr9:117264226..117271307-chr9:117346303..117355535,28	MCF-7	breast:
12	chr9:117335405..117337699-chr9:117348254..117350000,2	MCF-7	breast:
13	chr9:117346757..117362857-chr9:117372020..117377914,21	MCF-7	breast:
14	chr12:120729515..120730228-chr9:117349572..117350303,2	Hela-S3	cervix:
15	chr9:117349427..117352163-chr9:117404465..117406175,2	MCF-7	breast:
16	chr13:52026769..52027437-chr9:117349480..117350011,2	NB4	blood:
17	chr17:57921591..57925193-chr9:117348845..117350845,3	MCF-7	breast:
18	chr9:117264854..117270088-chr9:117348300..117353117,7	K562	blood:
19	chr12:51664358..51665286-chr9:117349629..117350181,2	Hela-S3	cervix:
20	chr9:117324281..117328199-chr9:117347808..117351256,4	MCF-7	breast:
21	chr3:12882949..12883492-chr9:117349477..117350004,2	NB4	blood:
22	chr9:117264990..117269271-chr9:117348762..117354798,9	MCF-7	breast:
23	chr9:117349336..117350972-chr9:117372211..117374265,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATP6V1G1	TF binding region
ATP6V1G1	CpG island
ENSG00000201524	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000235797	Chromatin interaction
ENSG00000238530	Chromatin interaction
ENSG00000157693	Chromatin interaction
ENSG00000144713	Chromatin interaction
ENSG00000201749	Chromatin interaction
ENSG00000095397	Chromatin interaction
ENSG00000181722	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000170545	Chromatin interaction
ENSG00000272241	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10817644	0.95[CHB][hapmap];0.98[CHD][hapmap];0.90[LWK][hapmap];0.81[ASN][1000 genomes]
rs10982315	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10982328	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12236314	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12238437	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs58198156	0.88[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7025216	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7854803	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS 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	155 gene(s)	inside rSNPs	diseases
2	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	nsv1051544	chr9:116944940-117443031	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
4	nsv540203	chr9:116944940-117443031	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1048093	chr9:116945025-117456210	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
6	nsv1050991	chr9:116953739-117442999	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv1046311	chr9:116953739-117447142	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
8	nsv1052877	chr9:116953739-117456210	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
9	nsv1039681	chr9:116953739-117457158	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
10	nsv1051987	chr9:116955841-117453668	Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
11	nsv1044374	chr9:116955841-117460150	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
12	nsv466534	chr9:116956268-117455810	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
13	nsv615234	chr9:116956268-117455810	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
14	nsv1048817	chr9:116957958-117456210	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
15	nsv615235	chr9:116958144-117367061	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
16	nsv615236	chr9:116958144-117455810	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
17	nsv466535	chr9:116958144-117456175	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
18	nsv615237	chr9:116958144-117456175	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
19	nsv615238	chr9:116958144-117458475	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
20	nsv430094	chr9:116958446-117456446	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
21	nsv1053756	chr9:116975934-117443031	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
22	nsv540204	chr9:116975934-117443031	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
23	nsv1047704	chr9:116978041-117399362	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
24	nsv540205	chr9:116978041-117399362	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
25	nsv530950	chr9:117009156-117399361	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
26	nsv916139	chr9:117009169-117399454	Weak transcription Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
27	nsv530951	chr9:117032675-117439804	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
28	nsv831694	chr9:117328640-117502785	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10982317	ZNF483	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117349000-117350800	Active TSS	Rectal Smooth Muscle	rectum
2	chr9:117349200-117349800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:117349200-117349800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr9:117349200-117349800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr9:117349200-117349800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr9:117349200-117349800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr9:117349200-117349800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:117349200-117349800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:117349200-117349800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:117349200-117349800	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr9:117349200-117349800	Flanking Active TSS	Fetal Brain Male	brain
12	chr9:117349200-117349800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr9:117349200-117349800	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr9:117349200-117349800	Flanking Active TSS	Dnd41	blood
15	chr9:117349200-117349800	Flanking Active TSS	Hela-S3	cervix
16	chr9:117349200-117349800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr9:117349200-117350200	Active TSS	Brain Germinal Matrix	brain
18	chr9:117349200-117350800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:117349200-117350800	Active TSS	Fetal Lung	lung
20	chr9:117349200-117350800	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr9:117349200-117350800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr9:117349200-117351000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr9:117349200-117351000	Active TSS	Brain Hippocampus Middle	brain
24	chr9:117349200-117351000	Active TSS	Colon Smooth Muscle	Colon
25	chr9:117349200-117351000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr9:117349200-117351000	Active TSS	Fetal Kidney	kidney
27	chr9:117349200-117351200	Active TSS	Fetal Intestine Small	intestine
28	chr9:117349200-117351400	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr9:117349200-117351600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr9:117349200-117351800	Active TSS	Colonic Mucosa	Colon
31	chr9:117349400-117349800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:117349400-117349800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:117349400-117349800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:117349400-117349800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr9:117349400-117349800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:117349400-117349800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:117349400-117349800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr9:117349400-117349800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr9:117349400-117349800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr9:117349400-117349800	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr9:117349400-117349800	Flanking Active TSS	Primary T cells from cord blood	blood
42	chr9:117349400-117349800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr9:117349400-117349800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr9:117349400-117349800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr9:117349400-117349800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr9:117349400-117349800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr9:117349400-117349800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr9:117349400-117349800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr9:117349400-117349800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr9:117349400-117349800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links