Variant report

Variant	rs6537746
Chromosome Location	chr1:113163529-113163530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:113160837-113163847	U87	brain:	n/a	n/a
2	TEAD4	chr1:113160214-113163630	K562	blood:	n/a	n/a
3	POLR2A	chr1:113160211-113163888	IMR90	lung:	n/a	n/a
4	POLR2A	chr1:113161319-113163804	K562	blood:	n/a	n/a
5	POLR2A	chr1:113160541-113163765	GM18505	blood:	n/a	n/a
6	POLR2A	chr1:113160565-113163551	K562	blood:	n/a	n/a
7	POLR2A	chr1:113160776-113163847	U87	brain:	n/a	n/a
8	MTA3	chr1:113160468-113163707	GM12878	blood:	n/a	n/a
9	WRNIP1	chr1:113163399-113163636	GM12878	blood:	n/a	n/a
10	CHD1	chr1:113160361-113165418	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:113160517-113163708	GM19099	blood:	n/a	n/a
12	POLR2A	chr1:113160415-113163657	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:113163360-113163602	HepG2	liver:	n/a	n/a
14	ZNF143	chr1:113161320-113163857	K562	blood:	n/a	n/a
15	POLR2A	chr1:113160776-113163700	HL-60	blood:	n/a	n/a
16	SIN3A	chr1:113160798-113163533	GM12878	blood:	n/a	chr1:113161499-113161510
17	POLR2A	chr1:113160523-113163590	MCF10A-Er-Src	breast:	n/a	n/a
18	FOXM1	chr1:113161420-113163576	GM12878	blood:	n/a	n/a
19	POLR2A	chr1:113160657-113163643	GM12878	blood:	n/a	n/a
20	KAP1	chr1:113161723-113163629	U2OS	brain:	n/a	n/a
21	MXI1	chr1:113160220-113163715	SK-N-SH	brain:	n/a	n/a
22	CREB1	chr1:113160564-113163762	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:113160584-113163777	GM12892	blood:	n/a	n/a
24	POLR2A	chr1:113160236-113163811	SK-N-MC	brain:	n/a	n/a
25	CUX1	chr1:113161749-113163715	K562	blood:	n/a	n/a
26	HCFC1	chr1:113160269-113163626	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:113160570-113163761	K562	blood:	n/a	n/a
28	POLR2A	chr1:113160589-113163616	K562	blood:	n/a	n/a
29	POLR2A	chr1:113160621-113163744	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:113160484-113163948	GM12891	blood:	n/a	n/a
31	JUN	chr1:113160308-113164479	K562	blood:	n/a	n/a
32	POLR2A	chr1:113160582-113163716	GM12892	blood:	n/a	n/a
33	POLR2A	chr1:113162873-113163740	GM12892	blood:	n/a	n/a
34	POLR2A	chr1:113160620-113163697	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:113161103-113163540	HUVEC	blood vessel:	n/a	n/a
36	TBP	chr1:113160453-113163815	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:113163516-113163553	MCF-7	breast:	n/a	n/a
38	CHD1	chr1:113160459-113163971	IMR90	lung:	n/a	n/a
39	POLR2A	chr1:113161138-113163635	GM12892	blood:	n/a	n/a
40	POLR2A	chr1:113160708-113163598	GM12892	blood:	n/a	n/a
41	E2F4	chr1:113163429-113163825	MCF10A-Er-Src	breast:	n/a	n/a
42	HEY1	chr1:113160701-113163729	K562	blood:	n/a	n/a
43	MXI1	chr1:113160603-113163850	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:113160656-113163797	GM12878	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:112934882..112939118-chr1:113160574..113165273,5	K562	blood:
2	chr1:113161978..113164385-chr9:33816477..33818971,2	MCF-7	breast:
3	chr1:112930309..112940640-chr1:113155859..113164847,24	MCF-7	breast:
4	chr1:113160176..113163931-chr1:113238020..113242018,6	K562	blood:
5	chr1:113163032..113164854-chr1:113235920..113238010,2	K562	blood:
6	chr1:113160443..113165363-chr1:113242054..113245654,5	K562	blood:
7	chr1:113160312..113164959-chr1:113166253..113170624,10	MCF-7	breast:
8	chr1:113002255..113010411-chr1:113160144..113164475,13	MCF-7	breast:
9	chr1:113159954..113164373-chr1:113192711..113196451,4	K562	blood:
10	chr1:113160723..113165170-chr1:113245654..113250392,12	K562	blood:
11	chr1:113157097..113164348-chr1:113214570..113220795,12	MCF-7	breast:
12	chr1:113156399..113165396-chr1:113241191..113253782,55	MCF-7	breast:
13	chr1:113003059..113010084-chr1:113159503..113164005,9	MCF-7	breast:
14	chr1:113160457..113163834-chr1:113216051..113218044,4	K562	blood:
15	chr1:113159779..113171222-chr1:113238237..113251191,41	K562	blood:
16	chr1:113158395..113164969-chr1:113214433..113222934,24	MCF-7	breast:
17	chr1:113162339..113164666-chr17:59475031..59477488,2	MCF-7	breast:
18	chr1:113160231..113165111-chr1:113199772..113204361,6	K562	blood:
19	chr1:113160638..113164364-chr1:113256565..113260015,7	MCF-7	breast:
20	chr1:113160723..113165186-chr1:113170921..113177730,6	MCF-7	breast:
21	chr1:112934847..112940551-chr1:113160058..113165450,12	MCF-7	breast:
22	chr1:113160799..113166409-chr1:113215716..113220433,9	K562	blood:
23	chr1:113156746..113166477-chr1:113240630..113253423,46	MCF-7	breast:
24	chr1:113160602..113163896-chr1:113252357..113259247,7	K562	blood:
25	chr1:113160555..113166228-chr1:113255932..113262161,8	K562	blood:

No data

Variant related genes	Relation type
ST7L	TF binding region
ENSG00000225075	Chromatin interaction
ENSG00000155366	Chromatin interaction
ENSG00000107341	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000252750	Chromatin interaction
ENSG00000235481	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000143079	Chromatin interaction
ENSG00000155363	Chromatin interaction
ENSG00000238975	Chromatin interaction
ENSG00000261595	Chromatin interaction
ENSG00000134245	Chromatin interaction
ENSG00000155367	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000235299	Chromatin interaction
ENSG00000271810	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10745331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10745332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10857969	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11102494	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11102508	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11102510	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11102517	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12048528	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12118370	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12119489	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12125361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12126494	0.85[EUR][1000 genomes]
rs12136781	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12137107	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12138335	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12143068	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1238	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12401734	1.00[CEU][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs12402469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12402929	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12406906	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12739994	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12750023	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12750621	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12758377	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17438324	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2273369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2279500	0.91[GIH][hapmap]
rs2932529	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2932534	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932538	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2932539	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3013433	0.82[EUR][1000 genomes]
rs3013441	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34531155	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35482634	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36029940	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3762335	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3790611	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[MKK][hapmap];0.92[TSI][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3790612	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];0.92[TSI][hapmap];0.93[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3795820	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4240534	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838960	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838961	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4839257	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61818772	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61818800	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6537740	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs6537741	0.81[MEX][hapmap]
rs6537742	0.84[CEU][hapmap];0.81[MEX][hapmap]
rs6537744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6537745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6537747	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658555	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6659677	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6661642	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6663922	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6668533	1.00[CEU][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs6671645	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6672761	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6673930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6674053	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6674068	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6681371	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6682678	1.00[ASW][hapmap];0.85[CEU][hapmap];0.82[CHB][hapmap];0.96[CHD][hapmap];0.92[GIH][hapmap];0.93[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6690169	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6690292	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6691025	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691917	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6693880	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6696991	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6698030	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6701351	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7415988	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7512984	0.80[EUR][1000 genomes]
rs7516421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7519368	0.90[EUR][1000 genomes]
rs7522110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7527076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7535636	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7537789	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7542820	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7546203	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7549547	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7551933	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7552692	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9429694	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9662162	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs999923	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv432631	chr1:113071834-113200797	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
5	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs6537746	ST7L	cis	lymphoblastoid	seeQTL
rs6537746	CTTNBP2NL	cis	parietal	SCAN
rs6537746	ST7L	cis	Lymphoblastoid	GTEx
rs6537746	HBXIP	cis	parietal	SCAN
rs6537746	ST7L	cis	lung	GTEx
rs6537746	ST7L	cis	multi-tissue	Pritchard
rs6537746	ALX3	cis	parietal	SCAN
rs6537746	CAPZA1	cis	lymphoblastoid	seeQTL
rs6537746	GSTM5	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113159800-113164000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr1:113160000-113164400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:113160000-113165400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:113160200-113163600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr1:113160200-113163600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:113160400-113163800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:113160400-113163800	Active TSS	Primary T cells fromperipheralblood	blood
8	chr1:113160400-113163800	Active TSS	HSMMtube	muscle
9	chr1:113160400-113164000	Active TSS	Psoas Muscle	Psoas
10	chr1:113160400-113164000	Active TSS	A549	lung
11	chr1:113160400-113164600	Active TSS	K562	blood
12	chr1:113160600-113163600	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr1:113160600-113163600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:113160600-113163600	Active TSS	Colonic Mucosa	Colon
15	chr1:113160600-113166000	Active TSS	GM12878-XiMat	blood
16	chr1:113160800-113163600	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr1:113160800-113163600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:113160800-113163600	Active TSS	Aorta	Aorta
19	chr1:113160800-113163800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:113161000-113163800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:113161000-113163800	Active TSS	Fetal Muscle Leg	muscle
22	chr1:113161000-113164000	Active TSS	NHLF	lung
23	chr1:113161200-113163600	Active TSS	Ovary	ovary
24	chr1:113161400-113164200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:113161800-113163600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:113161800-113165400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:113162000-113164200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:113162200-113163800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:113162400-113163800	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr1:113162600-113163800	Active TSS	Right Atrium	heart
31	chr1:113162600-113165000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr1:113162600-113165600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr1:113162800-113163600	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr1:113162800-113164800	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr1:113162800-113165200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:113162800-113165600	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr1:113163000-113163600	Flanking Active TSS	Fetal Heart	heart
38	chr1:113163000-113163600	Flanking Active TSS	Fetal Lung	lung
39	chr1:113163000-113163600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr1:113163000-113163800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr1:113163000-113163800	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr1:113163000-113164000	Flanking Active TSS	Liver	Liver
43	chr1:113163000-113164000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr1:113163000-113164000	Weak transcription	Spleen	Spleen
45	chr1:113163000-113164200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:113163000-113164200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:113163000-113164400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr1:113163000-113165200	Flanking Active TSS	Dnd41	blood
49	chr1:113163000-113165400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr1:113163200-113163600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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