Variant report

Variant	rs2453549
Chromosome Location	chr15:45722483-45722484
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT5A	chr15:45722421-45722822	GM12878	blood:	n/a	n/a
2	ZNF143	chr15:45722410-45722849	GM12878	blood:	n/a	chr15:45722610-45722620 chr15:45722836-45722846
3	CTCF	chr15:45722480-45722630	HFF	foreskin:	n/a	chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722594-45722612
4	CTCF	chr15:45722440-45722590	HFF-Myc	foreskin:	n/a	n/a
5	RCOR1	chr15:45722400-45722847	HepG2	liver:	n/a	n/a
6	RAD21	chr15:45722425-45722986	H1-hESC	embryonic stem cell:	n/a	chr15:45722600-45722610 chr15:45722655-45722665 chr15:45722598-45722611 chr15:45722650-45722669 chr15:45722595-45722614 chr15:45722653-45722666
7	YY1	chr15:45722429-45722809	GM12878	blood:	n/a	chr15:45722597-45722608 chr15:45722597-45722611 chr15:45722733-45722747
8	RAD21	chr15:45722437-45722817	A549	lung:	n/a	chr15:45722600-45722610 chr15:45722655-45722665 chr15:45722598-45722611 chr15:45722650-45722669 chr15:45722595-45722614 chr15:45722653-45722666
9	CREB1	chr15:45722359-45722911	H1-hESC	embryonic stem cell:	n/a	n/a
10	CREB1	chr15:45722413-45722856	A549	lung:	n/a	n/a
11	CUX1	chr15:45722463-45722655	GM12878	blood:	n/a	n/a
12	ZBTB7A	chr15:45722468-45722667	HepG2	liver:	n/a	chr15:45722657-45722666 chr15:45722602-45722611
13	CTCF	chr15:45722420-45722570	WI-38	lung:	n/a	n/a
14	MAZ	chr15:45722433-45722777	GM12878	blood:	n/a	chr15:45722597-45722607 chr15:45722718-45722727
15	CTCF	chr15:45722228-45722943	Fibrobl	skin:	n/a	chr15:45722753-45722762 chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722930-45722939 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
16	POLR2A	chr15:45722406-45723074	PANC-1	pancreas:	n/a	n/a
17	CTCF	chr15:45722255-45722815	GM19239	blood:	n/a	chr15:45722753-45722762 chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
18	SMC3	chr15:45722412-45722807	HepG2	liver:	n/a	chr15:45722655-45722665 chr15:45722651-45722665 chr15:45722596-45722610 chr15:45722600-45722610
19	RCOR1	chr15:45722475-45722796	GM12878	blood:	n/a	n/a
20	ATF3	chr15:45722457-45722760	K562	blood:	n/a	chr15:45722661-45722681 chr15:45722724-45722744
21	FOSL2	chr15:45722433-45722821	HepG2	liver:	n/a	n/a
22	YY1	chr15:45722312-45722902	HepG2	liver:	n/a	chr15:45722597-45722608 chr15:45722597-45722611 chr15:45722733-45722747
23	HDAC2	chr15:45722467-45722828	HepG2	liver:	n/a	n/a
24	CTCF	chr15:45722432-45722827	GM13977	blood:	n/a	chr15:45722753-45722762 chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
25	MAZ	chr15:45722237-45723002	IMR90	lung:	n/a	chr15:45722597-45722607 chr15:45722718-45722727
26	SP1	chr15:45722377-45722732	GM12878	blood:	n/a	chr15:45722713-45722722 chr15:45722714-45722723 chr15:45722713-45722722
27	MAX	chr15:45722383-45723118	A549	lung:	n/a	chr15:45722597-45722607 chr15:45722718-45722727
28	CTCF	chr15:45722483-45722753	HUVEC	blood vessel:	n/a	chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
29	ATF3	chr15:45722425-45722773	H1-hESC	embryonic stem cell:	n/a	chr15:45722661-45722681 chr15:45722724-45722744
30	ELF1	chr15:45722362-45722983	GM12878	blood:	n/a	n/a
31	CTCF	chr15:45722247-45722935	GM19238	blood:	n/a	chr15:45722753-45722762 chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
32	CREB1	chr15:45722427-45722875	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr15:45722452-45722979	MCF-7	breast:	n/a	chr15:45722597-45722607 chr15:45722718-45722727
34	ZEB1	chr15:45722357-45722841	GM12878	blood:	n/a	chr15:45722574-45722583
35	CTCF	chr15:45722471-45722781	MCF-7	breast:	n/a	chr15:45722753-45722762 chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
36	ZEB1	chr15:45722443-45722775	GM12878	blood:	n/a	chr15:45722574-45722583
37	RAD21	chr15:45722476-45722799	GM12878	blood:	n/a	chr15:45722600-45722610 chr15:45722655-45722665 chr15:45722598-45722611 chr15:45722650-45722669 chr15:45722595-45722614 chr15:45722653-45722666
38	CTCF	chr15:45722276-45722960	HepG2	liver:	n/a	chr15:45722753-45722762 chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722930-45722939 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
39	CTCF	chr15:45722399-45722818	A549	lung:	n/a	chr15:45722753-45722762 chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
40	TEAD4	chr15:45722477-45722757	K562	blood:	n/a	n/a
41	JUN	chr15:45722476-45722656	H1-hESC	embryonic stem cell:	n/a	n/a
42	JUND	chr15:45722483-45722819	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr15:45722464-45722727	SK-N-SH_RA	brain:	n/a	chr15:45722600-45722610 chr15:45722655-45722665 chr15:45722598-45722611 chr15:45722650-45722669 chr15:45722595-45722614 chr15:45722653-45722666
44	RAD21	chr15:45722359-45722828	HepG2	liver:	n/a	chr15:45722600-45722610 chr15:45722655-45722665 chr15:45722598-45722611 chr15:45722650-45722669 chr15:45722595-45722614 chr15:45722653-45722666
45	CTCF	chr15:45722446-45722816	MCF-7	breast:	n/a	chr15:45722753-45722762 chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
46	CTCF	chr15:45722302-45722878	K562	blood:	n/a	chr15:45722753-45722762 chr15:45722652-45722665 chr15:45722597-45722610 chr15:45722595-45722611 chr15:45722649-45722667 chr15:45722594-45722612 chr15:45722650-45722666
47	SIN3A	chr15:45722435-45722742	H1-hESC	embryonic stem cell:	n/a	chr15:45722611-45722620 chr15:45722597-45722608 chr15:45722588-45722601
48	ZBTB7A	chr15:45722394-45722776	ECC-1	luminal epithelium:	n/a	chr15:45722657-45722666 chr15:45722602-45722611
49	RAD21	chr15:45722227-45722988	HCT-116	colon:	n/a	chr15:45722600-45722610 chr15:45722655-45722665 chr15:45722598-45722611 chr15:45722650-45722669 chr15:45722595-45722614 chr15:45722653-45722666
50	RAD21	chr15:45722334-45722865	A549	lung:	n/a	chr15:45722600-45722610 chr15:45722655-45722665 chr15:45722598-45722611 chr15:45722650-45722669 chr15:45722595-45722614 chr15:45722653-45722666

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45722436-45722486	ProgFib	skin:	n/a
2	chr15:45722436-45722486	MCF-7	breast:	n/a
3	chr15:45722436-45722486	Hepatocyte	liver:	n/a
4	chr15:45722436-45722486	LNCaP	prostate:	n/a
5	chr15:45722436-45722486	ovcar-3	ovarian:	n/a
6	chr15:45722436-45722486	Caco-2	colon:	n/a
7	chr15:45722436-45722486	SK-N-MC	brain:	n/a
8	chr15:45722436-45722486	CMK	blood:	n/a
9	chr15:45722436-45722486	AG04450	lung:	fetal
10	chr15:45722436-45722486	HCT-116	colon:	n/a
11	chr15:45722436-45722486	HRPEpiC	eye:	n/a
12	chr15:45722436-45722486	HRE	kidney:	n/a
13	chr15:45722436-45722486	NHDF-neo	bronchial:	n/a
14	chr15:45722436-45722486	SK-N-SH	brain:	n/a
15	chr15:45722436-45722486	IMR90	lung:	fetal
16	chr15:45722436-45722486	AG04449	skin:	fetal
17	chr15:45722436-45722486	HCPEpiC	choroid plexus:	n/a
18	chr15:45722436-45722486	AG09319	gingival:	n/a
19	chr15:45722436-45722486	RPTEC	kidney:	n/a
20	chr15:45722436-45722486	MCF10A-Er-Src	breast:	n/a
21	chr15:45722436-45722486	GM12891	blood:	n/a
22	chr15:45722436-45722486	NT2-D1	testis:	n/a
23	chr15:45722436-45722486	GM19239	blood:	n/a
24	chr15:45722436-45722486	SKMC	muscle:	n/a
25	chr15:45722436-45722486	HPAEpiC	pulmonary alveolar:	n/a
26	chr15:45722436-45722486	HEK293	kidney:	embryo
27	chr15:45722436-45722486	AoSMC	blood vessel:	n/a
28	chr15:45722436-45722486	SK-N-SH_RA	brain:	n/a
29	chr15:45722436-45722486	A549	lung:	n/a
30	chr15:45722436-45722486	HEEpiC	esophagus:	n/a
31	chr15:45722436-45722486	BE2_C	brain:	n/a
32	chr15:45722436-45722486	AG09309	skin:	n/a
33	chr15:45722436-45722486	NB4	blood:	n/a
34	chr15:45722436-45722486	GM12892	blood:	n/a
35	chr15:45722436-45722486	NHBE	bronchial:	n/a
36	chr15:45722436-45722486	PFSK-1	brain:	n/a
37	chr15:45722436-45722486	HL-60	blood:	n/a
38	chr15:45722436-45722486	AG10803	skin:	n/a
39	chr15:45722436-45722486	SAEC	small airway:	n/a
40	chr15:45722436-45722486	HUVEC	blood vessel:	n/a
41	chr15:45722436-45722486	PrEC	prostate:	n/a
42	chr15:45722436-45722486	HIPEpiC	eye:	n/a
43	chr15:45722436-45722486	HepG2	liver:	n/a
44	chr15:45722436-45722486	HCM	heart:	n/a
45	chr15:45722436-45722486	HRCEpiC	kidney:	n/a
46	chr15:45722436-45722486	GM06990	blood:	n/a
47	chr15:45722436-45722486	HAEpiC	amniotic membrane:	n/a
48	chr15:45722436-45722486	K562	blood:	n/a
49	chr15:45722436-45722486	PANC-1	pancreas:	n/a
50	chr15:45722436-45722486	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:45722217..45722835-chr7:138482552..138483201,2	MCF-7	breast:
2	chr15:45721845..45722642-chr15:45750590..45751302,2	MCF-7	breast:
3	chr15:45693626..45696176-chr15:45720837..45722628,2	MCF-7	breast:
4	chr15:45707965..45711032-chr15:45722401..45726088,3	MCF-7	breast:
5	chr15:45722040..45723226-chr15:45748321..45751272,60	MCF-7	breast:

Variant related genes	Relation type
C15orf48	TF binding region
MIR147B	TF binding region
C15orf48	CpG island
MIR147B	CpG island
ENSG00000214128	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000259354	Chromatin interaction
ENSG00000171766	Chromatin interaction
ENSG00000105929	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1005072	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153836	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153837	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153839	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153840	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153841	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153842	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153843	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1153844	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288647	1.00[EUR][1000 genomes]
rs1288848	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288849	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288850	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288851	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288853	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288854	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288855	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288856	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288857	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288859	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288864	1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295500	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1295501	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1426933	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1426934	1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547488	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547489	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547490	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1559891	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1559892	1.00[EUR][1000 genomes]
rs1629849	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1629871	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1648875	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16943587	1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16943691	1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16943731	1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs16944196	1.00[EUR][1000 genomes]
rs1768457	1.00[EUR][1000 genomes]
rs1820519	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1834689	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1834691	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059661	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059662	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412958	1.00[EUR][1000 genomes]
rs2433613	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433614	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433615	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433622	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433623	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433624	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433625	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433626	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433627	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433628	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453514	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453515	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2453516	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453517	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453519	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453520	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2453521	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467861	1.00[EUR][1000 genomes]
rs2467874	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467875	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467876	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467877	0.80[AFR][1000 genomes]
rs2467878	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467879	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467880	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467882	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467883	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467884	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467885	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467886	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467887	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2467888	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2467889	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486279	1.00[EUR][1000 genomes]
rs2486283	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2486284	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57255527	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57421622	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58694071	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493153	1.00[EUR][1000 genomes]
rs73410550	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410575	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410577	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412436	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412437	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412438	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412440	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412443	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412445	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412447	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412449	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412452	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412453	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412454	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412456	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412457	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412459	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412460	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412462	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412463	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412466	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412467	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73412470	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73412473	1.00[EUR][1000 genomes]
rs73412479	1.00[EUR][1000 genomes]
rs73412484	1.00[EUR][1000 genomes]
rs73412488	1.00[EUR][1000 genomes]
rs73412490	1.00[EUR][1000 genomes]
rs73414454	1.00[EUR][1000 genomes]
rs8034420	1.00[EUR][1000 genomes]
rs937323	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937324	0.88[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs937325	1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9672808	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45706200-45722600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:45706600-45722800	Weak transcription	Fetal Heart	heart
3	chr15:45711400-45722600	Weak transcription	Brain Substantia Nigra	brain
4	chr15:45711800-45722600	Weak transcription	Spleen	Spleen
5	chr15:45712000-45722600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:45712000-45722600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:45712000-45722600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr15:45712000-45722600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:45712200-45722600	Weak transcription	Colonic Mucosa	Colon
10	chr15:45712200-45722600	Weak transcription	Psoas Muscle	Psoas
11	chr15:45712200-45722600	Weak transcription	Right Ventricle	heart
12	chr15:45712200-45722600	Weak transcription	NHLF	lung
13	chr15:45712400-45722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:45712800-45722600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr15:45712800-45722800	Weak transcription	Primary T cells from cord blood	blood
16	chr15:45713200-45722600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:45714200-45722600	Weak transcription	HMEC	breast
18	chr15:45714200-45722600	Weak transcription	Osteobl	bone
19	chr15:45714600-45722600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:45714800-45722600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr15:45714800-45722600	Weak transcription	HUVEC	blood vessel
22	chr15:45714800-45722600	Weak transcription	NH-A	brain
23	chr15:45714800-45722600	Weak transcription	NHDF-Ad	bronchial
24	chr15:45715000-45722600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:45715200-45722600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:45715200-45722600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:45715200-45722600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr15:45716200-45722600	Weak transcription	Thymus	Thymus
29	chr15:45720200-45722600	Enhancers	Hela-S3	cervix
30	chr15:45721000-45722600	Enhancers	Fetal Intestine Large	intestine
31	chr15:45721200-45722600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:45721800-45722600	Weak transcription	Fetal Intestine Small	intestine
33	chr15:45722000-45722800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr15:45722200-45722600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:45722200-45722600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:45722200-45722600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr15:45722200-45722600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr15:45722200-45722600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr15:45722200-45722600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr15:45722200-45722600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr15:45722200-45722600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:45722200-45722600	Bivalent Enhancer	Left Ventricle	heart
43	chr15:45722200-45722600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr15:45722200-45722600	Enhancers	GM12878-XiMat	blood
45	chr15:45722200-45722600	Flanking Active TSS	HepG2	liver
46	chr15:45722200-45722800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
47	chr15:45722200-45722800	Enhancers	Primary B cells from cord blood	blood
48	chr15:45722200-45722800	Enhancers	Primary B cells from peripheral blood	blood
49	chr15:45722200-45722800	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr15:45722200-45722800	Enhancers	Placenta	Placenta

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