Variant report

Variant	rs17350188
Chromosome Location	chr2:73964842-73964843
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:302)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:302 , 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	REST	chr2:73964244-73964853	HepG2	liver:	n/a	chr2:73964308-73964328
2	TEAD4	chr2:73964199-73964942	ECC-1	luminal epithelium:	n/a	n/a
3	ELF1	chr2:73964112-73964982	GM12878	blood:	n/a	chr2:73964555-73964568
4	CHD2	chr2:73964116-73964872	Hela-S3	cervix:	n/a	n/a
5	ATF3	chr2:73964112-73964866	A549	lung:	n/a	n/a
6	POLR2A	chr2:73964124-73964893	U87	brain:	n/a	n/a
7	YY1	chr2:73964230-73964881	SK-N-SH	brain:	n/a	n/a
8	MAX	chr2:73964178-73964875	ECC-1	luminal epithelium:	n/a	n/a
9	FOSL2	chr2:73963918-73964867	HepG2	liver:	n/a	n/a
10	PAX5	chr2:73964259-73964957	GM12878	blood:	n/a	n/a
11	MAZ	chr2:73963852-73964852	K562	blood:	n/a	n/a
12	POU2F2	chr2:73963890-73964864	GM12891	blood:	n/a	n/a
13	POLR2A	chr2:73964082-73964965	GM12891	blood:	n/a	n/a
14	POLR2A	chr2:73964110-73964917	HCT-116	colon:	n/a	n/a
15	POLR2A	chr2:73964031-73965051	U87	brain:	n/a	n/a
16	MTA3	chr2:73963778-73964872	GM12878	blood:	n/a	n/a
17	ELF1	chr2:73964038-73964956	MCF-7	breast:	n/a	chr2:73964555-73964568
18	POLR2A	chr2:73964191-73964960	MCF-7	breast:	n/a	n/a
19	MAX	chr2:73964038-73964892	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr2:73962876-73964903	MCF10A-Er-Src	breast:	n/a	n/a
21	TAF1	chr2:73963980-73964847	H1-hESC	embryonic stem cell:	n/a	n/a
22	RCOR1	chr2:73964065-73964848	GM12878	blood:	n/a	n/a
23	CBX3	chr2:73964204-73964916	K562	blood:	n/a	n/a
24	POLR2A	chr2:73964290-73964846	ProgFib	skin:	n/a	n/a
25	ELF1	chr2:73964215-73964877	A549	lung:	n/a	chr2:73964555-73964568
26	POLR2A	chr2:73963765-73965056	GM12892	blood:	n/a	n/a
27	BHLHE40	chr2:73964268-73964911	GM12878	blood:	n/a	chr2:73964388-73964404
28	HEY1	chr2:73964172-73964870	HepG2	liver:	n/a	n/a
29	NFYA	chr2:73964188-73964847	Hela-S3	cervix:	n/a	n/a
30	EP300	chr2:73964223-73964955	A549	lung:	n/a	chr2:73964668-73964675
31	ELF1	chr2:73964237-73964923	SK-N-SH	brain:	n/a	chr2:73964555-73964568
32	ATF2	chr2:73964252-73964883	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr2:73963810-73964942	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr2:73964116-73964887	HepG2	liver:	n/a	n/a
35	SRF	chr2:73964325-73964852	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr2:73964147-73964905	GM12891	blood:	n/a	n/a
37	RFX5	chr2:73964289-73964883	GM12878	blood:	n/a	n/a
38	REST	chr2:73964069-73964917	HL-60	blood:	n/a	chr2:73964308-73964328
39	POU2F2	chr2:73964204-73964899	GM12891	blood:	n/a	n/a
40	MAX	chr2:73963856-73964933	MCF-7	breast:	n/a	n/a
41	POLR2A	chr2:73963689-73964879	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr2:73964378-73965051	A549	lung:	n/a	n/a
43	REST	chr2:73963628-73965190	H1-neurons	neurons:	n/a	chr2:73964308-73964328
44	CREB1	chr2:73964210-73964849	A549	lung:	n/a	n/a
45	SRF	chr2:73964087-73964956	MCF-7	breast:	n/a	chr2:73964184-73964201
46	RUNX3	chr2:73964091-73964947	GM12878	blood:	n/a	n/a
47	POLR2A	chr2:73963619-73965745	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr2:73963841-73964849	K562	blood:	n/a	n/a
49	POLR2A	chr2:73964121-73964970	SK-N-MC	brain:	n/a	n/a
50	SRF	chr2:73964326-73964889	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:73964834-73964884	MCF10A-Er-Src	breast:	n/a
2	chr2:73964834-73964884	HPAEpiC	pulmonary alveolar:	n/a
3	chr2:73964834-73964884	AG04450	lung:	fetal
4	chr2:73964834-73964884	HepG2	liver:	n/a
5	chr2:73964834-73964884	BE2_C	brain:	n/a
6	chr2:73964834-73964884	Hepatocyte	liver:	n/a
7	chr2:73964834-73964884	SK-N-SH_RA	brain:	n/a
8	chr2:73964834-73964884	AG09309	skin:	n/a
9	chr2:73964834-73964884	AG04449	skin:	fetal
10	chr2:73964834-73964884	NH-A	brain:	n/a
11	chr2:73964834-73964884	Jurkat	blood:	n/a
12	chr2:73964834-73964884	HCPEpiC	choroid plexus:	n/a
13	chr2:73964834-73964884	ovcar-3	ovarian:	n/a
14	chr2:73964834-73964884	K562	blood:	n/a
15	chr2:73964834-73964884	HNPCEpiC	eye:	n/a
16	chr2:73964834-73964884	NHBE	bronchial:	n/a
17	chr2:73964834-73964884	HRCEpiC	kidney:	n/a
18	chr2:73964834-73964884	PANC-1	pancreas:	n/a
19	chr2:73964834-73964884	NB4	blood:	n/a
20	chr2:73964834-73964884	HCF	heart:	n/a
21	chr2:73964834-73964884	SK-N-MC	brain:	n/a
22	chr2:73964834-73964884	HRPEpiC	eye:	n/a
23	chr2:73964834-73964884	ProgFib	skin:	n/a
24	chr2:73964834-73964884	U87	brain:	n/a
25	chr2:73964834-73964884	SAEC	small airway:	n/a
26	chr2:73964834-73964884	HIPEpiC	eye:	n/a
27	chr2:73964834-73964884	AG10803	skin:	n/a
28	chr2:73964834-73964884	Caco-2	colon:	n/a
29	chr2:73964834-73964884	HCM	heart:	n/a
30	chr2:73964834-73964884	HL-60	blood:	n/a
31	chr2:73964834-73964884	HMEC	breast:	n/a
32	chr2:73964834-73964884	H1-hESC	embryonic stem cell:	embryo
33	chr2:73964834-73964884	HAEpiC	amniotic membrane:	n/a
34	chr2:73964834-73964884	A549	lung:	n/a
35	chr2:73964834-73964884	HRE	kidney:	n/a
36	chr2:73964834-73964884	GM12891	blood:	n/a
37	chr2:73964834-73964884	RPTEC	kidney:	n/a
38	chr2:73964834-73964884	PFSK-1	brain:	n/a
39	chr2:73964834-73964884	BJ	skin:	n/a
40	chr2:73964834-73964884	NHDF-neo	bronchial:	n/a
41	chr2:73964834-73964884	ECC-1	luminal epithelium:	n/a
42	chr2:73964834-73964884	GM06990	blood:	n/a
43	chr2:73964834-73964884	HCT-116	colon:	n/a
44	chr2:73964834-73964884	LNCaP	prostate:	n/a
45	chr2:73964834-73964884	HEK293	kidney:	embryo
46	chr2:73964834-73964884	NT2-D1	testis:	n/a
47	chr2:73964834-73964884	AoSMC	blood vessel:	n/a
48	chr2:73964834-73964884	SKMC	muscle:	n/a
49	chr2:73964834-73964884	AG09319	gingival:	n/a
50	chr2:73964834-73964884	GM19239	blood:	n/a

(count:7 , 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	chr2:73956564..73959101-chr2:73964667..73967117,2	MCF-7	breast:
4	chr2:73964502..73966089-chr2:74005861..74007990,2	MCF-7	breast:
5	chr2:73962060..73965748-chr2:74053469..74057980,4	K562	blood:
6	chr2:73964687..73966201-chr2:73967226..73969278,2	K562	blood:
7	chr12:58201131..58203130-chr2:73963168..73964881,2	MCF-7	breast:

No data

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

Extended variants
information (count: 127 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10172044	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10190002	0.81[TSI][hapmap]
rs10191988	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10193032	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.88[ASN][1000 genomes]
rs10203740	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10208995	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1052161	0.81[TSI][hapmap]
rs11126414	0.87[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11126415	0.91[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11126416	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11126417	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs11891140	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11892172	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11894953	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]
rs12052539	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12053242	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12233112	0.87[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12233115	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12611487	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12612423	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12615807	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12618600	0.83[TSI][hapmap]
rs12619258	0.87[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12624267	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12713788	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12713789	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12713790	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12713791	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12713793	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12713794	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12713795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713797	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12713798	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12992607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12997568	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12998980	0.87[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13000788	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13003035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13005729	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13006448	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13006598	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13013228	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13014700	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13015885	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13017182	0.84[GIH][hapmap];0.83[MEX][hapmap]
rs13020517	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13022837	0.81[AMR][1000 genomes]
rs13026192	0.81[EUR][1000 genomes]
rs13031853	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13031866	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13033744	0.91[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1320374	0.81[TSI][hapmap]
rs13383097	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17009372	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs17350056	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17350125	0.91[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17434634	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17434655	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1806683	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1815028	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2001436	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2001490	0.87[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2006997	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2012574	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2116367	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2272051	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2272178	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2421557	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2421558	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2421559	0.96[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2421574	0.92[GIH][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.84[AMR][1000 genomes]
rs2421575	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2421586	0.83[TSI][hapmap]
rs2421668	0.83[TSI][hapmap]
rs2421672	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2421674	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2421675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2421676	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2421677	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2462127	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35421685	0.84[AMR][1000 genomes]
rs35498419	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35528262	0.82[EUR][1000 genomes]
rs35767294	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35791379	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3813228	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3980695	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4241257	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4358149	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4513320	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4530394	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4852316	0.91[EUR][1000 genomes]
rs4852972	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4852975	0.87[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4852976	0.91[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4852977	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4852978	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6732812	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6745560	0.82[GIH][hapmap];0.87[MEX][hapmap]
rs6748233	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6749841	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6750494	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6750515	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6750877	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6755500	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs732778	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7368570	0.91[AMR][1000 genomes]
rs7370393	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7558546	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7570683	0.83[TSI][hapmap]
rs7591112	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7597302	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7599453	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7606947	0.92[GIH][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.80[YRI][hapmap];0.84[AMR][1000 genomes]
rs891695	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs891696	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9309475	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9309476	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[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:16)

SNP	Gene	Cis/trans	Tissue	Source
rs17350188	TPRKB	cis	Liver	GTEx
rs17350188	CGI-121	cis	multi-tissue	Pritchard
rs17350188	DUSP11	cis	cerebellum	SCAN
rs17350188	ALMS1	cis	brain	seeQTL
rs17350188	CHMP7	trans	brain	seeQTL
rs17350188	ALMS1P	cis	parietal	SCAN
rs17350188	ALMS1	cis	parietal	SCAN
rs17350188	PGBD4	trans	brain	seeQTL
rs17350188	ALMS1	cis	cerebellum	SCAN
rs17350188	DCTN1	cis	brain	seeQTL
rs17350188	ALMS1	trans	brain	seeQTL
rs17350188	ALMS1P	cis	Nerve Tibial	GTEx
rs17350188	SEMA4F	cis	brain	seeQTL
rs17350188	DUSP11	cis	parietal	SCAN
rs17350188	TPRKB	cis	multi-tissue	Pritchard
rs17350188	OPHN1	trans	brain	seeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73963200-73965000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:73963200-73965000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:73963200-73965200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:73963200-73965200	Active TSS	K562	blood
5	chr2:73963400-73965000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:73963400-73965000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:73963400-73965000	Active TSS	Fetal Intestine Large	intestine
8	chr2:73963400-73965000	Active TSS	NHDF-Ad	bronchial
9	chr2:73963400-73965200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr2:73963400-73965200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:73963400-73965200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:73963400-73965200	Active TSS	A549	lung
13	chr2:73963400-73965200	Active TSS	Hela-S3	cervix
14	chr2:73963400-73965400	Active TSS	NHLF	lung
15	chr2:73963600-73965000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr2:73963600-73965000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr2:73963600-73965000	Active TSS	Aorta	Aorta
18	chr2:73963600-73965000	Active TSS	Esophagus	oesophagus
19	chr2:73963600-73965000	Active TSS	Fetal Intestine Small	intestine
20	chr2:73963600-73965000	Active TSS	Left Ventricle	heart
21	chr2:73963600-73965000	Active TSS	Lung	lung
22	chr2:73963600-73965000	Active TSS	Ovary	ovary
23	chr2:73963600-73965000	Active TSS	NHEK	skin
24	chr2:73963600-73965200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr2:73963600-73965200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:73963600-73965200	Active TSS	Psoas Muscle	Psoas
27	chr2:73963600-73965400	Active TSS	GM12878-XiMat	blood
28	chr2:73963600-73965400	Active TSS	HSMM	muscle
29	chr2:73963800-73965000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:73963800-73965000	Active TSS	Fetal Heart	heart
31	chr2:73963800-73965000	Active TSS	Gastric	stomach
32	chr2:73963800-73965000	Active TSS	Stomach Mucosa	stomach
33	chr2:73963800-73965200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr2:73963800-73965200	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr2:73963800-73965200	Active TSS	Fetal Stomach	stomach
36	chr2:73963800-73965400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:73963800-73965400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:73963800-73965400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:73963800-73965400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:73963800-73965400	Active TSS	Fetal Brain Female	brain
41	chr2:73964000-73965000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:73964000-73965000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:73964000-73965000	Active TSS	Colonic Mucosa	Colon
44	chr2:73964000-73965000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr2:73964000-73965000	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr2:73964000-73965000	Active TSS	Right Ventricle	heart
47	chr2:73964000-73965000	Active TSS	Thymus	Thymus
48	chr2:73964000-73965000	Active TSS	Spleen	Spleen
49	chr2:73964000-73965000	Active TSS	HSMMtube	muscle
50	chr2:73964000-73965200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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