Variant report

Variant	rs11894953
Chromosome Location	chr2:73964631-73964632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:529)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr2:73964244-73964853	HepG2	liver:	n/a	chr2:73964308-73964328
2	ZBTB7A	chr2:73964266-73964699	K562	blood:	n/a	n/a
3	TEAD4	chr2:73964199-73964942	ECC-1	luminal epithelium:	n/a	n/a
4	MYC	chr2:73964630-73964644	HUVEC	blood vessel:	n/a	n/a
5	ELF1	chr2:73964112-73964982	GM12878	blood:	n/a	chr2:73964555-73964568
6	PML	chr2:73964148-73964762	K562	blood:	n/a	n/a
7	CHD2	chr2:73964116-73964872	Hela-S3	cervix:	n/a	n/a
8	ATF3	chr2:73964112-73964866	A549	lung:	n/a	n/a
9	ATF3	chr2:73964314-73964768	K562	blood:	n/a	n/a
10	SP2	chr2:73964404-73964686	K562	blood:	n/a	n/a
11	FOXP2	chr2:73964316-73964828	SK-N-MC	brain:	n/a	n/a
12	POLR2A	chr2:73964124-73964893	U87	brain:	n/a	n/a
13	SIN3AK20	chr2:73963744-73964698	K562	blood:	n/a	n/a
14	YY1	chr2:73964230-73964881	SK-N-SH	brain:	n/a	n/a
15	MAX	chr2:73964178-73964875	ECC-1	luminal epithelium:	n/a	n/a
16	KAP1	chr2:73964130-73964840	HEK293	kidney:	n/a	n/a
17	FOSL2	chr2:73963918-73964867	HepG2	liver:	n/a	n/a
18	PAX5	chr2:73964259-73964957	GM12878	blood:	n/a	n/a
19	MAZ	chr2:73963852-73964852	K562	blood:	n/a	n/a
20	POU2F2	chr2:73963890-73964864	GM12891	blood:	n/a	n/a
21	POLR2A	chr2:73964082-73964965	GM12891	blood:	n/a	n/a
22	BCLAF1	chr2:73964131-73964755	K562	blood:	n/a	chr2:73964140-73964148 chr2:73964667-73964676
23	TEAD4	chr2:73964094-73964824	K562	blood:	n/a	n/a
24	POLR2A	chr2:73964110-73964917	HCT-116	colon:	n/a	n/a
25	STAT1	chr2:73964307-73964825	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:73964031-73965051	U87	brain:	n/a	n/a
27	MTA3	chr2:73963778-73964872	GM12878	blood:	n/a	n/a
28	ELF1	chr2:73964038-73964956	MCF-7	breast:	n/a	chr2:73964555-73964568
29	POLR2A	chr2:73964191-73964960	MCF-7	breast:	n/a	n/a
30	RCOR1	chr2:73964316-73964792	HepG2	liver:	n/a	n/a
31	MAX	chr2:73964038-73964892	SK-N-SH	brain:	n/a	n/a
32	FOS	chr2:73964241-73964728	MCF10A-Er-Src	breast:	n/a	n/a
33	SIN3AK20	chr2:73964262-73964701	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr2:73962876-73964903	MCF10A-Er-Src	breast:	n/a	n/a
35	TCF12	chr2:73964424-73964779	H1-hESC	embryonic stem cell:	n/a	n/a
36	SMC3	chr2:73963757-73964829	Hela-S3	cervix:	n/a	n/a
37	MXI1	chr2:73964387-73964687	K562	blood:	n/a	n/a
38	ZEB1	chr2:73964285-73964837	GM12878	blood:	n/a	n/a
39	MAX	chr2:73964073-73964719	K562	blood:	n/a	n/a
40	TAF1	chr2:73964310-73964807	PFSK-1	brain:	n/a	n/a
41	TAF1	chr2:73963980-73964847	H1-hESC	embryonic stem cell:	n/a	n/a
42	RCOR1	chr2:73964065-73964848	GM12878	blood:	n/a	n/a
43	CBX3	chr2:73964204-73964916	K562	blood:	n/a	n/a
44	POLR2A	chr2:73964290-73964846	ProgFib	skin:	n/a	n/a
45	ELF1	chr2:73964215-73964877	A549	lung:	n/a	chr2:73964555-73964568
46	POLR2A	chr2:73963765-73965056	GM12892	blood:	n/a	n/a
47	BHLHE40	chr2:73964268-73964911	GM12878	blood:	n/a	chr2:73964388-73964404
48	HEY1	chr2:73964172-73964870	HepG2	liver:	n/a	n/a
49	NFYA	chr2:73964188-73964847	Hela-S3	cervix:	n/a	n/a
50	RCOR1	chr2:73963725-73964828	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:73964587-73964637	RPTEC	kidney:	n/a
2	chr2:73964587-73964637	GM12891	blood:	n/a
3	chr2:73964587-73964637	AG09319	gingival:	n/a
4	chr2:73964587-73964637	HCT-116	colon:	n/a
5	chr2:73964587-73964637	AG04450	lung:	fetal
6	chr2:73964587-73964637	CMK	blood:	n/a
7	chr2:73964587-73964637	NT2-D1	testis:	n/a
8	chr2:73964587-73964637	PANC-1	pancreas:	n/a
9	chr2:73964587-73964637	Jurkat	blood:	n/a
10	chr2:73964587-73964637	Hela-S3	cervix:	n/a
11	chr2:73964587-73964637	HL-60	blood:	n/a
12	chr2:73964587-73964637	Caco-2	colon:	n/a
13	chr2:73964587-73964637	AG04449	skin:	fetal
14	chr2:73964587-73964637	HCF	heart:	n/a
15	chr2:73964587-73964637	IMR90	lung:	fetal
16	chr2:73964587-73964637	HCPEpiC	choroid plexus:	n/a
17	chr2:73964587-73964637	NHBE	bronchial:	n/a
18	chr2:73964587-73964637	NH-A	brain:	n/a
19	chr2:73964587-73964637	PFSK-1	brain:	n/a
20	chr2:73964587-73964637	SK-N-SH	brain:	n/a
21	chr2:73964587-73964637	HRCEpiC	kidney:	n/a
22	chr2:73964587-73964637	GM06990	blood:	n/a
23	chr2:73964587-73964637	HEK293	kidney:	embryo
24	chr2:73964587-73964637	Hepatocyte	liver:	n/a
25	chr2:73964587-73964637	AG10803	skin:	n/a
26	chr2:73964587-73964637	NB4	blood:	n/a
27	chr2:73964587-73964637	AG09309	skin:	n/a
28	chr2:73964587-73964637	HMEC	breast:	n/a
29	chr2:73964587-73964637	AoSMC	blood vessel:	n/a
30	chr2:73964587-73964637	SK-N-MC	brain:	n/a
31	chr2:73964587-73964637	ovcar-3	ovarian:	n/a
32	chr2:73964587-73964637	SKMC	muscle:	n/a
33	chr2:73964587-73964637	HepG2	liver:	n/a
34	chr2:73964587-73964637	BJ	skin:	n/a
35	chr2:73964587-73964637	BE2_C	brain:	n/a
36	chr2:73964587-73964637	MCF10A-Er-Src	breast:	n/a
37	chr2:73964587-73964637	T-47D	breast:	n/a
38	chr2:73964587-73964637	A549	lung:	n/a
39	chr2:73964587-73964637	SK-N-SH_RA	brain:	n/a
40	chr2:73964587-73964637	HUVEC	blood vessel:	n/a
41	chr2:73964587-73964637	GM12878	blood:	n/a
42	chr2:73964587-73964637	PrEC	prostate:	n/a
43	chr2:73964587-73964637	LNCaP	prostate:	n/a
44	chr2:73964587-73964637	U87	brain:	n/a
45	chr2:73964587-73964637	HAEpiC	amniotic membrane:	n/a
46	chr2:73964587-73964637	HRE	kidney:	n/a
47	chr2:73964587-73964637	HCM	heart:	n/a
48	chr2:73964587-73964637	HRPEpiC	eye:	n/a
49	chr2:73964587-73964637	K562	blood:	n/a
50	chr2:73964587-73964637	H1-hESC	embryonic stem cell:	embryo

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:73963771..73965386-chr2:74005336..74008448,3	MCF-7	breast:
2	chr2:73964465..73966386-chr2:74680896..74683797,3	MCF-7	breast:
3	chr2:73964502..73966089-chr2:74005861..74007990,2	MCF-7	breast:
4	chr2:73962060..73965748-chr2:74053469..74057980,4	K562	blood:
5	chr12:58201131..58203130-chr2:73963168..73964881,2	MCF-7	breast:
6	chr2:73957067..73958868-chr2:73963036..73964665,2	MCF-7	breast:

No data

Variant related genes	Relation type
TPRKB	TF binding region
TPRKB	CpG island
ENSG00000115274	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000135407	Chromatin interaction
ENSG00000144034	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs10172044	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10190002	0.81[TSI][hapmap]
rs10191988	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10193032	0.81[CHB][hapmap];0.81[CHD][hapmap];0.83[TSI][hapmap]
rs10200762	0.84[AMR][1000 genomes]
rs10203740	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs10208995	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1052161	0.81[TSI][hapmap]
rs11126414	0.87[CEU][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11126415	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11126416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11126417	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs11891140	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11892172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12052539	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12053242	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12233112	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs12233115	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12611487	0.84[EUR][1000 genomes]
rs12612423	0.84[EUR][1000 genomes]
rs12615807	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12618600	0.83[TSI][hapmap]
rs12619258	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12624267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12713788	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12713789	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12713790	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12713791	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12713793	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12713794	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12713795	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12713797	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12713798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12992607	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12997568	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12998980	0.87[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13000788	0.84[EUR][1000 genomes]
rs13003035	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13005729	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13006448	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13006598	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13013228	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13014700	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13015885	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13017182	0.81[GIH][hapmap];0.83[MEX][hapmap]
rs13020517	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13026192	0.81[EUR][1000 genomes]
rs13031853	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13031866	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13033744	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1320374	0.81[TSI][hapmap]
rs13383097	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17350056	0.86[EUR][1000 genomes]
rs17350125	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17350188	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17434634	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17434655	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1806683	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1815028	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2001436	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2001490	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2006997	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2012574	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2116367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2272051	0.96[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2272178	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2421557	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2421558	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2421559	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2421574	0.90[GIH][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs2421575	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2421586	0.83[TSI][hapmap]
rs2421668	0.83[TSI][hapmap]
rs2421672	0.96[CEU][hapmap];0.81[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2421674	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2421675	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2421676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2421677	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2462127	0.88[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs35498419	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35528262	0.82[EUR][1000 genomes]
rs35767294	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35791379	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3813228	0.96[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3980695	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4241257	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4358149	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4513320	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4530394	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4852316	0.91[EUR][1000 genomes]
rs4852972	0.84[EUR][1000 genomes]
rs4852975	0.87[CEU][hapmap];0.97[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4852976	0.91[CEU][hapmap];0.97[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4852977	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4852978	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6732812	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6745560	0.87[MEX][hapmap]
rs6748233	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6749841	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6750494	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6750515	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6750877	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6755500	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7210	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs732778	0.85[EUR][1000 genomes]
rs7368570	0.85[AMR][1000 genomes]
rs7370393	0.86[EUR][1000 genomes]
rs7558546	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7570683	0.83[TSI][hapmap]
rs7591112	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7597302	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7599453	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7606947	0.90[GIH][hapmap];0.91[MEX][hapmap];0.86[TSI][hapmap]
rs891695	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs891696	0.89[EUR][1000 genomes]
rs9309475	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9309476	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription 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 target site	20 gene(s)	inside rSNPs	diseases
5	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	33 gene(s)	inside rSNPs	diseases
6	nsv998315	chr2:73919185-74003998	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv1000675	chr2:73919185-74038946	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1003153	chr2:73927235-73975416	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats 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 target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11894953	ALMS1	cis	brain	seeQTL
rs11894953	CGI-121	cis	multi-tissue	Pritchard
rs11894953	ALMS1P	cis	parietal	SCAN
rs11894953	DUSP11	cis	cerebellum	SCAN
rs11894953	ALMS1	cis	parietal	SCAN
rs11894953	ALMS1P	cis	Nerve Tibial	GTEx
rs11894953	DUSP11	cis	parietal	SCAN
rs11894953	ALMS1	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73963200-73964800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:73963200-73964800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr2:73963200-73965000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:73963200-73965000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:73963200-73965200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:73963200-73965200	Active TSS	K562	blood
7	chr2:73963400-73964800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:73963400-73964800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:73963400-73964800	Active TSS	HMEC	breast
10	chr2:73963400-73965000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:73963400-73965000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:73963400-73965000	Active TSS	Fetal Intestine Large	intestine
13	chr2:73963400-73965000	Active TSS	NHDF-Ad	bronchial
14	chr2:73963400-73965200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr2:73963400-73965200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:73963400-73965200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:73963400-73965200	Active TSS	A549	lung
18	chr2:73963400-73965200	Active TSS	Hela-S3	cervix
19	chr2:73963400-73965400	Active TSS	NHLF	lung
20	chr2:73963600-73964800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:73963600-73964800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:73963600-73964800	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr2:73963600-73964800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:73963600-73964800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:73963600-73964800	Active TSS	Fetal Muscle Trunk	muscle
26	chr2:73963600-73964800	Active TSS	Right Atrium	heart
27	chr2:73963600-73965000	Active TSS	H1 Cell Line	embryonic stem cell
28	chr2:73963600-73965000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr2:73963600-73965000	Active TSS	Aorta	Aorta
30	chr2:73963600-73965000	Active TSS	Esophagus	oesophagus
31	chr2:73963600-73965000	Active TSS	Fetal Intestine Small	intestine
32	chr2:73963600-73965000	Active TSS	Left Ventricle	heart
33	chr2:73963600-73965000	Active TSS	Lung	lung
34	chr2:73963600-73965000	Active TSS	Ovary	ovary
35	chr2:73963600-73965000	Active TSS	NHEK	skin
36	chr2:73963600-73965200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr2:73963600-73965200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:73963600-73965200	Active TSS	Psoas Muscle	Psoas
39	chr2:73963600-73965400	Active TSS	GM12878-XiMat	blood
40	chr2:73963600-73965400	Active TSS	HSMM	muscle
41	chr2:73963800-73964800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:73963800-73964800	Active TSS	Muscle Satellite Cultured Cells	--
43	chr2:73963800-73964800	Active TSS	Fetal Brain Male	brain
44	chr2:73963800-73964800	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr2:73963800-73965000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:73963800-73965000	Active TSS	Fetal Heart	heart
47	chr2:73963800-73965000	Active TSS	Gastric	stomach
48	chr2:73963800-73965000	Active TSS	Stomach Mucosa	stomach
49	chr2:73963800-73965200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr2:73963800-73965200	Active TSS	Primary T killer memory cells from peripheral blood	blood

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