Variant report

Variant	rs4527950
Chromosome Location	chr9:117267472-117267473
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:61)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:117267398-117267804	GM12892	blood:	n/a	n/a
2	POLR2A	chr9:117266445-117268397	Hela-S3	cervix:	n/a	n/a
3	GABPA	chr9:117267468-117268283	MCF-7	breast:	n/a	n/a
4	MAX	chr9:117266228-117268472	MCF-7	breast:	n/a	chr9:117267822-117267832
5	TAF1	chr9:117267462-117268035	HepG2	liver:	n/a	n/a
6	ZBTB7A	chr9:117266873-117267651	K562	blood:	n/a	chr9:117267280-117267291
7	GABPA	chr9:117267452-117268153	K562	blood:	n/a	n/a
8	MXI1	chr9:117266350-117268844	IMR90	lung:	n/a	n/a
9	REST	chr9:117267254-117268633	H1-neurons	neurons:	n/a	chr9:117267977-117267990 chr9:117267982-117267992 chr9:117267386-117267399 chr9:117267941-117267954 chr9:117268002-117268009
10	NR2F2	chr9:117267166-117267643	K562	blood:	n/a	n/a
11	POLR2A	chr9:117266698-117268659	IMR90	lung:	n/a	n/a
12	CREB1	chr9:117267470-117268095	GM12878	blood:	n/a	n/a
13	CCNT2	chr9:117266501-117268153	K562	blood:	n/a	chr9:117267531-117267540 chr9:117267963-117267972
14	MAX	chr9:117266431-117268463	A549	lung:	n/a	chr9:117267822-117267832
15	ETS1	chr9:117267465-117268088	K562	blood:	n/a	chr9:117267594-117267607
16	ZBTB7A	chr9:117267011-117268302	ECC-1	luminal epithelium:	n/a	chr9:117267280-117267291
17	POLR2A	chr9:117267179-117268247	K562	blood:	n/a	n/a
18	ZNF263	chr9:117266650-117267978	K562	blood:	n/a	chr9:117267945-117267954
19	MYC	chr9:117265974-117268214	K562	blood:	n/a	chr9:117267822-117267832
20	MAX	chr9:117266377-117268454	HCT-116	colon:	n/a	chr9:117267822-117267832
21	POLR2A	chr9:117267339-117268078	MCF-7	breast:	n/a	n/a
22	PAX5	chr9:117267450-117267869	GM12892	blood:	n/a	n/a
23	SIN3AK20	chr9:117267429-117268084	PANC-1	pancreas:	n/a	n/a
24	TAF1	chr9:117267439-117268072	ECC-1	luminal epithelium:	n/a	n/a
25	ZMIZ1	chr9:117267415-117268179	K562	blood:	n/a	n/a
26	POLR2A	chr9:117267449-117268096	MCF-7	breast:	n/a	n/a
27	POLR2A	chr9:117267331-117267903	HepG2	liver:	n/a	n/a
28	MAZ	chr9:117266295-117268608	IMR90	lung:	n/a	chr9:117267822-117267832
29	YY1	chr9:117267451-117267915	HepG2	liver:	n/a	chr9:117267670-117267684 chr9:117267821-117267835
30	ELF1	chr9:117266950-117268080	GM12878	blood:	n/a	chr9:117267263-117267272 chr9:117267977-117267989
31	POLR2A	chr9:117267439-117268183	K562	blood:	n/a	n/a
32	CHD2	chr9:117266564-117268088	K562	blood:	n/a	chr9:117267819-117267829
33	HCFC1	chr9:117267378-117268308	Hela-S3	cervix:	n/a	n/a
34	SMARCB1	chr9:117266437-117268402	Hela-S3	cervix:	n/a	n/a
35	MAZ	chr9:117266365-117268308	K562	blood:	n/a	chr9:117267822-117267832
36	POLR2A	chr9:117267425-117268091	MCF-7	breast:	n/a	n/a
37	SIN3A	chr9:117266510-117268389	H1-hESC	embryonic stem cell:	n/a	chr9:117267131-117267144 chr9:117267667-117267680 chr9:117267699-117267710 chr9:117267400-117267413
38	POLR2A	chr9:117267472-117267482	GM12878	blood:	n/a	n/a
39	POLR2A	chr9:117267464-117268181	K562	blood:	n/a	n/a
40	UBTF	chr9:117266378-117268315	K562	blood:	n/a	n/a
41	E2F6	chr9:117266367-117268248	K562	blood:	n/a	chr9:117267821-117267830 chr9:117267394-117267403 chr9:117267969-117267978 chr9:117267667-117267677
42	MAZ	chr9:117267461-117268099	GM12878	blood:	n/a	chr9:117267822-117267832
43	ZNF263	chr9:117266795-117268197	HEK293-T-REx	kidney:	n/a	chr9:117267945-117267954
44	POLR2A	chr9:117266581-117268587	H1-hESC	embryonic stem cell:	n/a	n/a
45	RCOR1	chr9:117267390-117267942	GM12878	blood:	n/a	n/a
46	POLR2A	chr9:117267438-117268014	ProgFib	skin:	n/a	n/a
47	POLR2A	chr9:117267421-117268257	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr9:117267410-117268245	Hela-S3	cervix:	n/a	n/a
49	CREB1	chr9:117267296-117268069	A549	lung:	n/a	n/a
50	HEY1	chr9:117267466-117267928	HepG2	liver:	n/a	chr9:117267687-117267702

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:117267460-117267510	ovcar-3	ovarian:	n/a
2	chr9:117267460-117267510	HEEpiC	esophagus:	n/a
3	chr9:117267460-117267510	AG04450	lung:	fetal
4	chr9:117267460-117267510	SKMC	muscle:	n/a
5	chr9:117267460-117267510	BJ	skin:	n/a
6	chr9:117267460-117267510	HCM	heart:	n/a
7	chr9:117267460-117267510	HepG2	liver:	n/a
8	chr9:117267460-117267510	U87	brain:	n/a
9	chr9:117267460-117267510	GM06990	blood:	n/a
10	chr9:117267460-117267510	PANC-1	pancreas:	n/a
11	chr9:117267460-117267510	HCT-116	colon:	n/a
12	chr9:117267460-117267510	SK-N-SH_RA	brain:	n/a
13	chr9:117267460-117267510	HRCEpiC	kidney:	n/a
14	chr9:117267460-117267510	MCF10A-Er-Src	breast:	n/a
15	chr9:117267460-117267510	IMR90	lung:	fetal
16	chr9:117267460-117267510	NHBE	bronchial:	n/a
17	chr9:117267460-117267510	HAEpiC	amniotic membrane:	n/a
18	chr9:117267460-117267510	SK-N-SH	brain:	n/a
19	chr9:117267460-117267510	Jurkat	blood:	n/a
20	chr9:117267460-117267510	T-47D	breast:	n/a
21	chr9:117267460-117267510	H1-hESC	embryonic stem cell:	embryo
22	chr9:117267460-117267510	MCF-7	breast:	n/a
23	chr9:117267460-117267510	GM12892	blood:	n/a
24	chr9:117267460-117267510	SAEC	small airway:	n/a
25	chr9:117267460-117267510	GM12878	blood:	n/a
26	chr9:117267460-117267510	HNPCEpiC	eye:	n/a
27	chr9:117267460-117267510	ProgFib	skin:	n/a
28	chr9:117267460-117267510	HPAEpiC	pulmonary alveolar:	n/a
29	chr9:117267460-117267510	HUVEC	blood vessel:	n/a
30	chr9:117267460-117267510	AG09319	gingival:	n/a
31	chr9:117267460-117267510	LNCaP	prostate:	n/a
32	chr9:117267460-117267510	CMK	blood:	n/a
33	chr9:117267460-117267510	AG09309	skin:	n/a
34	chr9:117267460-117267510	HMEC	breast:	n/a
35	chr9:117267460-117267510	Hepatocyte	liver:	n/a
36	chr9:117267460-117267510	NB4	blood:	n/a
37	chr9:117267460-117267510	NT2-D1	testis:	n/a
38	chr9:117267460-117267510	HCPEpiC	choroid plexus:	n/a
39	chr9:117267460-117267510	PFSK-1	brain:	n/a
40	chr9:117267460-117267510	SK-N-MC	brain:	n/a
41	chr9:117267460-117267510	Caco-2	colon:	n/a
42	chr9:117267460-117267510	PrEC	prostate:	n/a
43	chr9:117267460-117267510	AoSMC	blood vessel:	n/a
44	chr9:117267460-117267510	NHDF-neo	bronchial:	n/a
45	chr9:117267460-117267510	NH-A	brain:	n/a
46	chr9:117267460-117267510	A549	lung:	n/a
47	chr9:117267460-117267510	Hela-S3	cervix:	n/a
48	chr9:117267460-117267510	HCF	heart:	n/a
49	chr9:117267460-117267510	HL-60	blood:	n/a
50	chr9:117267460-117267510	GM12891	blood:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:117264990..117269271-chr9:117348762..117354798,9	MCF-7	breast:
2	chr9:117157540..117162429-chr9:117265948..117270229,5	K562	blood:
3	chr9:117263907..117271703-chr9:117371218..117376768,10	MCF-7	breast:
4	chr9:117265762..117270088-chr9:117348229..117352933,7	K562	blood:
5	chr9:117263014..117265983-chr9:117266031..117267744,5	MCF-7	breast:
6	chr9:117263501..117265677-chr9:117266069..117268440,2	K562	blood:
7	chr9:117264854..117270088-chr9:117348300..117353117,7	K562	blood:
8	chr9:117262731..117268447-chr9:117369704..117378306,14	K562	blood:
9	chr9:117251818..117256354-chr9:117261161..117269778,10	MCF-7	breast:
10	chr9:117160090..117161808-chr9:117267255..117268992,2	MCF-7	breast:
11	chr9:117265687..117267555-chr9:117372704..117375188,3	MCF-7	breast:
12	chr9:117266234..117268906-chr9:117372659..117377270,6	K562	blood:
13	chr9:117264226..117271307-chr9:117346303..117355535,28	MCF-7	breast:

No data

Variant related genes	Relation type
DFNB31	TF binding region
DFNB31	CpG island
ENSG00000136888	Chromatin interaction
ENSG00000157693	Chromatin interaction
ENSG00000201749	Chromatin interaction
ENSG00000271214	Chromatin interaction
ENSG00000235119	Chromatin interaction
ENSG00000095397	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10759714	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10817628	0.89[EUR][1000 genomes]
rs10817629	0.89[EUR][1000 genomes]
rs10817631	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10817632	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10982244	0.81[EUR][1000 genomes]
rs1324631	0.81[EUR][1000 genomes]
rs1535964	0.90[EUR][1000 genomes]
rs1535965	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2296262	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2297814	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2297815	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers 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	165 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	nsv831693	chr9:117116450-117281895	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
30	esv3398432	chr9:117265956-117268504	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4527950	DFNB31	cis	brain	BrainEAC
rs4527950	DFNB31	cis	intralobular white matter	BrainEAC

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117263600-117268400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr9:117264200-117268200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr9:117264200-117268400	Active TSS	Brain Angular Gyrus	brain
4	chr9:117264600-117268200	Active TSS	Brain Cingulate Gyrus	brain
5	chr9:117264600-117268400	Active TSS	Brain Substantia Nigra	brain
6	chr9:117264600-117268600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr9:117265200-117267600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
8	chr9:117265400-117268600	Bivalent/Poised TSS	Fetal Brain Female	brain
9	chr9:117265800-117267600	Flanking Active TSS	HMEC	breast
10	chr9:117265800-117268200	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr9:117266000-117267600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr9:117266000-117268000	Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr9:117266000-117268000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr9:117266000-117268600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr9:117266200-117267600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr9:117266200-117268200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr9:117266200-117268200	Active TSS	Rectal Smooth Muscle	rectum
18	chr9:117266200-117268400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:117266200-117268600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr9:117266400-117268200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr9:117266400-117268200	Active TSS	Primary T cells from cord blood	blood
22	chr9:117266400-117268200	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr9:117266400-117268200	Active TSS	HSMM	muscle
24	chr9:117266400-117268200	Active TSS	NHEK	skin
25	chr9:117266400-117268400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr9:117266400-117268600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:117266400-117268600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr9:117266400-117268600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr9:117266400-117268600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:117266400-117268600	Active TSS	Colon Smooth Muscle	Colon
31	chr9:117266600-117267600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:117266600-117267600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:117266600-117267600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr9:117266600-117267600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:117266600-117267600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
36	chr9:117266600-117267600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
37	chr9:117266600-117267600	Flanking Active TSS	NH-A	brain
38	chr9:117266600-117268000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr9:117266600-117268000	Active TSS	Brain Anterior Caudate	brain
40	chr9:117266600-117268000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
41	chr9:117266600-117268000	Bivalent/Poised TSS	Fetal Stomach	stomach
42	chr9:117266600-117268200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:117266600-117268200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr9:117266600-117268200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:117266600-117268200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr9:117266600-117268200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
47	chr9:117266600-117268200	Active TSS	Ovary	ovary
48	chr9:117266600-117268200	Active TSS	A549	lung
49	chr9:117266600-117268400	Active TSS	H9 Cell Line	embryonic stem cell
50	chr9:117266600-117268400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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