Variant report

Variant	rs4760168
Chromosome Location	chr12:58087737-58087738
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:415)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:58087380-58088169	K562	blood:	n/a	n/a
2	SP1	chr12:58087433-58088132	GM12878	blood:	n/a	n/a
3	GABPA	chr12:58087438-58088302	SK-N-SH	brain:	n/a	n/a
4	IRF1	chr12:58087376-58088148	K562	blood:	n/a	chr12:58087850-58087859 chr12:58087724-58087733
5	MAZ	chr12:58087519-58088154	Hela-S3	cervix:	n/a	n/a
6	MYC	chr12:58087670-58087968	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr12:58087728-58088156	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF7L2	chr12:58087471-58088098	HEK293	kidney:	n/a	chr12:58087651-58087665
9	ELF1	chr12:58087369-58088339	GM12878	blood:	n/a	chr12:58088159-58088170 chr12:58088139-58088150
10	SP1	chr12:58087315-58088161	K562	blood:	n/a	n/a
11	MAX	chr12:58087407-58088128	Hela-S3	cervix:	n/a	n/a
12	MXI1	chr12:58087396-58088351	GM12878	blood:	n/a	n/a
13	YY1	chr12:58087731-58088167	GM12891	blood:	n/a	chr12:58087940-58087952
14	STAT3	chr12:58087382-58088301	GM12878	blood:	n/a	n/a
15	CEBPB	chr12:58087338-58088032	Hela-S3	cervix:	n/a	chr12:58087724-58087732
16	TCF12	chr12:58087300-58088365	ECC-1	luminal epithelium:	n/a	chr12:58088278-58088286
17	USF1	chr12:58087422-58088074	A549	lung:	n/a	n/a
18	NRF1	chr12:58087428-58087874	Hela-S3	cervix:	n/a	n/a
19	BHLHE40	chr12:58087403-58088305	GM12878	blood:	n/a	n/a
20	ZNF143	chr12:58087314-58088142	H1-hESC	embryonic stem cell:	n/a	chr12:58087570-58087580
21	CTCF	chr12:58087447-58087743	Medullo	brain:	n/a	n/a
22	REST	chr12:58087722-58088316	ECC-1	luminal epithelium:	n/a	chr12:58087789-58087803
23	POLR2A	chr12:58087497-58088172	IMR90	lung:	n/a	n/a
24	RAD21	chr12:58087389-58087768	HepG2	liver:	n/a	chr12:58087567-58087581
25	POLR2A	chr12:58087708-58088159	PANC-1	pancreas:	n/a	n/a
26	USF2	chr12:58087474-58088029	Hela-S3	cervix:	n/a	n/a
27	TBP	chr12:58087394-58088141	Hela-S3	cervix:	n/a	n/a
28	STAT1	chr12:58087519-58088113	GM12878	blood:	n/a	n/a
29	CHD2	chr12:58087455-58088428	Hela-S3	cervix:	n/a	n/a
30	ZNF143	chr12:58087372-58088309	GM12878	blood:	n/a	chr12:58087570-58087580
31	POLR2A	chr12:58087537-58088452	GM18526	blood:	n/a	n/a
32	NRF1	chr12:58087452-58087810	HepG2	liver:	n/a	n/a
33	TAF1	chr12:58087700-58088157	GM12878	blood:	n/a	n/a
34	SP1	chr12:58087555-58088052	K562	blood:	n/a	n/a
35	SIN3AK20	chr12:58087449-58088339	K562	blood:	n/a	n/a
36	POLR2A	chr12:58087366-58088170	SK-N-SH	brain:	n/a	n/a
37	CTCF	chr12:58087447-58087763	T-47D	breast:	n/a	n/a
38	POLR2A	chr12:58087530-58088198	GM12878	blood:	n/a	n/a
39	PML	chr12:58087103-58088359	GM12878	blood:	n/a	n/a
40	YY1	chr12:58087440-58088438	GM12878	blood:	n/a	chr12:58087940-58087952
41	SP1	chr12:58087306-58088298	A549	lung:	n/a	n/a
42	MAFK	chr12:58087416-58088151	K562	blood:	n/a	n/a
43	FOXA2	chr12:58087457-58088160	A549	lung:	n/a	n/a
44	CTCF	chr12:58087128-58087899	MCF-7	breast:	n/a	n/a
45	POLR2A	chr12:58087727-58088231	Hela-S3	cervix:	n/a	n/a
46	ELF1	chr12:58087450-58088330	K562	blood:	n/a	chr12:58088159-58088170 chr12:58088139-58088150
47	NFIC	chr12:58087466-58088105	HepG2	liver:	n/a	n/a
48	MYC	chr12:58087351-58088043	H1-hESC	embryonic stem cell:	n/a	n/a
49	TAF1	chr12:58087686-58088116	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr12:58087528-58088542	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58087721-58087771	ovcar-3	ovarian:	n/a
2	chr12:58087721-58087771	GM12878	blood:	n/a
3	chr12:58087721-58087771	HIPEpiC	eye:	n/a
4	chr12:58087721-58087771	SKMC	muscle:	n/a
5	chr12:58087721-58087771	HMEC	breast:	n/a
6	chr12:58087721-58087771	GM06990	blood:	n/a
7	chr12:58087721-58087771	HNPCEpiC	eye:	n/a
8	chr12:58087721-58087771	Caco-2	colon:	n/a
9	chr12:58087721-58087771	A549	lung:	n/a
10	chr12:58087721-58087771	AoSMC	blood vessel:	n/a
11	chr12:58087721-58087771	NH-A	brain:	n/a
12	chr12:58087721-58087771	HUVEC	blood vessel:	n/a
13	chr12:58087721-58087771	Hepatocyte	liver:	n/a
14	chr12:58087721-58087771	PrEC	prostate:	n/a
15	chr12:58087721-58087771	RPTEC	kidney:	n/a
16	chr12:58087721-58087771	PANC-1	pancreas:	n/a
17	chr12:58087721-58087771	HRCEpiC	kidney:	n/a
18	chr12:58087721-58087771	HL-60	blood:	n/a
19	chr12:58087721-58087771	HCT-116	colon:	n/a
20	chr12:58087721-58087771	HepG2	liver:	n/a
21	chr12:58087721-58087771	GM12891	blood:	n/a
22	chr12:58087721-58087771	GM19239	blood:	n/a
23	chr12:58087721-58087771	BE2_C	brain:	n/a
24	chr12:58087721-58087771	GM12892	blood:	n/a
25	chr12:58087721-58087771	NB4	blood:	n/a
26	chr12:58087721-58087771	NHBE	bronchial:	n/a
27	chr12:58087721-58087771	NHDF-neo	bronchial:	n/a
28	chr12:58087721-58087771	SK-N-SH	brain:	n/a
29	chr12:58087721-58087771	HPAEpiC	pulmonary alveolar:	n/a
30	chr12:58087721-58087771	ECC-1	luminal epithelium:	n/a
31	chr12:58087721-58087771	AG09309	skin:	n/a
32	chr12:58087721-58087771	H1-hESC	embryonic stem cell:	embryo
33	chr12:58087721-58087771	AG09319	gingival:	n/a
34	chr12:58087721-58087771	HEEpiC	esophagus:	n/a
35	chr12:58087721-58087771	NT2-D1	testis:	n/a
36	chr12:58087721-58087771	HCF	heart:	n/a
37	chr12:58087721-58087771	AG04450	lung:	fetal
38	chr12:58087721-58087771	T-47D	breast:	n/a
39	chr12:58087721-58087771	AG04449	skin:	fetal
40	chr12:58087721-58087771	HCM	heart:	n/a
41	chr12:58087721-58087771	Hela-S3	cervix:	n/a
42	chr12:58087721-58087771	HRPEpiC	eye:	n/a
43	chr12:58087721-58087771	PFSK-1	brain:	n/a
44	chr12:58087721-58087771	CMK	blood:	n/a
45	chr12:58087721-58087771	K562	blood:	n/a
46	chr12:58087721-58087771	SK-N-MC	brain:	n/a
47	chr12:58087721-58087771	ProgFib	skin:	n/a
48	chr12:58087721-58087771	MCF10A-Er-Src	breast:	n/a
49	chr12:58087721-58087771	SK-N-SH_RA	brain:	n/a
50	chr12:58087721-58087771	U87	brain:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57915543..57917497-chr12:58086337..58088295,2	K562	blood:
2	chr12:58086909..58089805-chr12:58175888..58177930,2	K562	blood:
3	chr12:57983103..57986007-chr12:58086180..58089172,2	MCF-7	breast:
4	chr12:58086950..58089833-chr12:58113163..58115231,2	K562	blood:
5	chr12:58085407..58089363-chr12:58117669..58123604,12	MCF-7	breast:
6	chr12:58026893..58027508-chr12:58087361..58087934,2	K562	blood:
7	chr12:58026407..58027580-chr12:58087150..58087941,5	MCF-7	breast:
8	chr12:57907013..57909948-chr12:58087318..58089281,2	K562	blood:
9	chr12:58007718..58010411-chr12:58087376..58090012,2	MCF-7	breast:
10	chr12:57914055..57914634-chr12:58087066..58087962,2	MCF-7	breast:
11	chr12:58086741..58089162-chr12:58114553..58116663,2	MCF-7	breast:
12	chr12:57910924..57913637-chr12:58087334..58089189,3	K562	blood:
13	chr12:58086381..58087931-chr12:58138408..58140168,2	K562	blood:
14	chr12:58087206..58088752-chr12:58165817..58167834,2	MCF-7	breast:
15	chr12:58062107..58064323-chr12:58086416..58089211,2	K562	blood:
16	chr12:58085694..58088995-chr12:58116929..58123534,7	MCF-7	breast:
17	chr12:57913089..57916136-chr12:58086816..58089656,3	MCF-7	breast:
18	chr12:57983190..57986031-chr12:58086563..58089648,3	K562	blood:

No data

Variant related genes	Relation type
OS9	TF binding region
OS9	CpG island
ENSG00000135452	Chromatin interaction
ENSG00000255737	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000264046	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000257499	Chromatin interaction
ENSG00000123297	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000257342	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000238436	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10082911	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10083154	0.87[CEU][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs10431552	0.83[GIH][hapmap]
rs10783836	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10783842	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783843	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783844	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783847	0.83[GIH][hapmap]
rs1082502	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1082503	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10876993	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.92[MKK][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10876994	0.86[CHB][hapmap]
rs10877001	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10877006	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877007	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877008	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10877014	0.82[GIH][hapmap]
rs10877016	0.83[GIH][hapmap]
rs1092472	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11172277	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11172306	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11172344	0.83[GIH][hapmap]
rs12302351	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12302451	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12314562	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12316021	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12809742	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12813384	0.87[ASN][1000 genomes]
rs1585781	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1628552	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1629032	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1633360	1.00[ASN][1000 genomes]
rs1633361	0.88[ASN][1000 genomes]
rs1678504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1678505	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1678511	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678512	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1678513	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678515	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1678516	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1678520	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1678522	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1678527	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1678528	0.88[ASN][1000 genomes]
rs1678529	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1678530	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678531	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678532	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1678534	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1678539	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1678540	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1689584	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689585	0.84[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1689586	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1689592	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1689594	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1689595	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1689596	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1689597	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1689600	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1689601	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1689604	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1696466	0.81[ASN][1000 genomes]
rs1871417	0.87[CEU][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs2277322	0.82[JPT][hapmap]
rs238516	0.82[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs2619441	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619466	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2640629	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];0.96[YRI][hapmap]
rs2640630	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2640631	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2928053	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2928054	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2928055	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2928061	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2928062	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928064	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760164	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4760165	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs701006	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[ASN][1000 genomes]
rs701008	0.85[CHD][hapmap]
rs703832	0.83[EUR][1000 genomes]
rs7136269	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7314152	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs774887	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs774888	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs774890	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap]
rs774891	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7976852	0.86[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7979246	0.89[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs799575	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs810204	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8181644	0.83[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh 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	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers 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	126 gene(s)	inside rSNPs	diseases
3	nsv508676	chr12:58045136-58098538	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
4	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs4760168	FAM119B	cis	lymphoblastoid	seeQTL
rs4760168	KRT75	cis	cerebellum	SCAN
rs4760168	HSD17B6	cis	cerebellum	SCAN
rs4760168	TSPAN31	cis	parietal	SCAN
rs4760168	NXPH4	cis	cerebellum	SCAN
rs4760168	FAM119B	cis	cerebellum	SCAN
rs4760168	FAM119B	Cis_1M	lymphoblastoid	RTeQTL
rs4760168	CDK2	cis	parietal	SCAN
rs4760168	SLC26A10	cis	Heart Left Ventricle	GTEx
rs4760168	TSFM	Cis_1M	lymphoblastoid	RTeQTL
rs4760168	ITGB7	cis	cerebellum	SCAN
rs4760168	STAT6	cis	cerebellum	SCAN
rs4760168	CDK4	cis	cerebellum	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58087000-58088000	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr12:58087000-58088200	Active TSS	Stomach Smooth Muscle	stomach
3	chr12:58087000-58088400	Active TSS	Brain Cingulate Gyrus	brain
4	chr12:58087000-58088600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr12:58087000-58089000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:58087200-58087800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:58087200-58087800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:58087200-58088000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:58087200-58088000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:58087200-58088000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:58087200-58088000	Active TSS	Brain Germinal Matrix	brain
12	chr12:58087200-58088000	Active TSS	Rectal Smooth Muscle	rectum
13	chr12:58087200-58088200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr12:58087200-58088200	Active TSS	Placenta	Placenta
15	chr12:58087200-58088400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:58087200-58088400	Active TSS	Brain Angular Gyrus	brain
17	chr12:58087200-58088400	Active TSS	Brain Hippocampus Middle	brain
18	chr12:58087200-58088400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:58087200-58088400	Active TSS	Colon Smooth Muscle	Colon
20	chr12:58087200-58088400	Active TSS	Psoas Muscle	Psoas
21	chr12:58087200-58088400	Active TSS	HSMMtube	muscle
22	chr12:58087200-58088400	Active TSS	Osteobl	bone
23	chr12:58087200-58088600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:58087200-58088600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:58087200-58088600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:58087200-58088600	Active TSS	Brain Anterior Caudate	brain
27	chr12:58087200-58088600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr12:58087200-58088600	Active TSS	Pancreas	Pancrea
29	chr12:58087200-58088600	Active TSS	A549	lung
30	chr12:58087200-58088600	Active TSS	NHLF	lung
31	chr12:58087200-58088800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr12:58087200-58088800	Active TSS	Colonic Mucosa	Colon
33	chr12:58087200-58088800	Active TSS	GM12878-XiMat	blood
34	chr12:58087200-58089000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr12:58087200-58089000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr12:58087200-58089000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr12:58087400-58087800	Weak transcription	Left Ventricle	heart
38	chr12:58087400-58088000	Enhancers	Fetal Brain Male	brain
39	chr12:58087400-58088000	Active TSS	HepG2	liver
40	chr12:58087400-58088200	Active TSS	Primary B cells from cord blood	blood
41	chr12:58087400-58088200	Active TSS	Primary T cells fromperipheralblood	blood
42	chr12:58087400-58088200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr12:58087400-58088200	Active TSS	Liver	Liver
44	chr12:58087400-58088200	Active TSS	Fetal Muscle Trunk	muscle
45	chr12:58087400-58088400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:58087400-58088400	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr12:58087400-58088400	Active TSS	Primary T cells from cord blood	blood
48	chr12:58087400-58088400	Active TSS	Primary hematopoietic stem cells	blood
49	chr12:58087400-58088400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:58087400-58088400	Active TSS	Primary T helper naive cells from peripheral blood	blood

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