Variant report

Variant	rs4924483
Chromosome Location	chr15:40857265-40857266
allele	A/C
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	ZMIZ1	chr15:40857060-40857755	K562	blood:	n/a	n/a
2	JUN	chr15:40856508-40858049	K562	blood:	n/a	n/a
3	TAF1	chr15:40856879-40857656	H1-hESC	embryonic stem cell:	n/a	n/a
4	ELK4	chr15:40856646-40857383	Hela-S3	cervix:	n/a	chr15:40856846-40856857
5	GTF2F1	chr15:40857168-40857402	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr15:40857120-40857270	SK-N-SH_RA	brain:	n/a	n/a
7	RUNX3	chr15:40857022-40857680	GM12878	blood:	n/a	n/a
8	HEY1	chr15:40856912-40857615	K562	blood:	n/a	n/a
9	USF1	chr15:40856983-40857752	SK-N-SH	brain:	n/a	chr15:40857403-40857412 chr15:40857403-40857412 chr15:40857397-40857418 chr15:40857404-40857413 chr15:40857402-40857411
10	POLR2A	chr15:40856378-40857440	GM12878	blood:	n/a	n/a
11	MAFK	chr15:40856743-40857640	Hela-S3	cervix:	n/a	n/a
12	NRF1	chr15:40856768-40857582	GM12878	blood:	n/a	n/a
13	STAT3	chr15:40856612-40857545	MCF10A-Er-Src	breast:	n/a	chr15:40857235-40857247 chr15:40857423-40857435 chr15:40857380-40857400
14	POLR2A	chr15:40857086-40857514	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr15:40856920-40857466	GM12891	blood:	n/a	n/a
16	IRF3	chr15:40857181-40857557	GM12878	blood:	n/a	n/a
17	ZNF143	chr15:40857010-40857621	GM12878	blood:	n/a	n/a
18	MAX	chr15:40856778-40857709	HepG2	liver:	n/a	chr15:40857402-40857413 chr15:40857403-40857412
19	ELK1	chr15:40856652-40857701	GM12878	blood:	n/a	chr15:40856847-40856856 chr15:40856847-40856856
20	CHD2	chr15:40857123-40857528	K562	blood:	n/a	n/a
21	MAX	chr15:40856702-40857619	SK-N-SH	brain:	n/a	chr15:40857402-40857413 chr15:40857403-40857412
22	POLR2A	chr15:40856744-40857653	Raji	blood:	n/a	n/a
23	NFYA	chr15:40857093-40857661	Hela-S3	cervix:	n/a	chr15:40857311-40857323 chr15:40857307-40857322 chr15:40857303-40857321 chr15:40857307-40857322
24	MXI1	chr15:40856367-40857750	IMR90	lung:	n/a	n/a
25	USF1	chr15:40857090-40857617	SK-N-SH_RA	brain:	n/a	chr15:40857403-40857412 chr15:40857403-40857412 chr15:40857397-40857418 chr15:40857404-40857413 chr15:40857402-40857411
26	TAF1	chr15:40856907-40857597	K562	blood:	n/a	n/a
27	POLR2A	chr15:40856836-40857617	MCF-7	breast:	n/a	n/a
28	HMGN3	chr15:40856818-40857489	K562	blood:	n/a	n/a
29	NFYB	chr15:40856617-40857565	Hela-S3	cervix:	n/a	chr15:40857311-40857323 chr15:40857309-40857324 chr15:40857307-40857322 chr15:40857307-40857322
30	BRCA1	chr15:40856951-40857484	GM12878	blood:	n/a	n/a
31	MAX	chr15:40856991-40857792	A549	lung:	n/a	chr15:40857402-40857413 chr15:40857403-40857412
32	ZBTB7A	chr15:40857072-40857307	K562	blood:	n/a	n/a
33	ZNF143	chr15:40857247-40857690	K562	blood:	n/a	n/a
34	TEAD4	chr15:40856605-40857777	K562	blood:	n/a	n/a
35	MAX	chr15:40857006-40857691	GM12878	blood:	n/a	chr15:40857402-40857413 chr15:40857403-40857412
36	TAF1	chr15:40856967-40857375	PFSK-1	brain:	n/a	n/a
37	SP1	chr15:40856989-40857578	H1-hESC	embryonic stem cell:	n/a	chr15:40857421-40857433 chr15:40857237-40857248 chr15:40857423-40857432 chr15:40857300-40857321 chr15:40857422-40857431 chr15:40857422-40857436 chr15:40857237-40857249 chr15:40857237-40857249
38	MAZ	chr15:40856423-40857893	IMR90	lung:	n/a	chr15:40857402-40857413 chr15:40857403-40857412
39	MAX	chr15:40857126-40857572	H1-hESC	embryonic stem cell:	n/a	chr15:40857402-40857413 chr15:40857403-40857412
40	IRF3	chr15:40857154-40857660	Hela-S3	cervix:	n/a	n/a
41	USF1	chr15:40857090-40857692	ECC-1	luminal epithelium:	n/a	chr15:40857403-40857412 chr15:40857403-40857412 chr15:40857397-40857418 chr15:40857404-40857413 chr15:40857402-40857411
42	TBL1XR1	chr15:40856994-40857859	K562	blood:	n/a	n/a
43	MAX	chr15:40857096-40857566	K562	blood:	n/a	chr15:40857402-40857413 chr15:40857403-40857412
44	CTCF	chr15:40857120-40857270	NHDF-neo	bronchial:	n/a	n/a
45	USF1	chr15:40857123-40857614	A549	lung:	n/a	chr15:40857403-40857412 chr15:40857403-40857412 chr15:40857397-40857418 chr15:40857404-40857413 chr15:40857402-40857411
46	SP1	chr15:40857154-40857557	GM12878	blood:	n/a	chr15:40857421-40857433 chr15:40857237-40857248 chr15:40857423-40857432 chr15:40857300-40857321 chr15:40857422-40857431 chr15:40857422-40857436 chr15:40857237-40857249 chr15:40857237-40857249
47	POLR2A	chr15:40856842-40857560	GM19099	blood:	n/a	n/a
48	MAFK	chr15:40856883-40857515	K562	blood:	n/a	n/a
49	POLR2A	chr15:40856651-40857589	GM12892	blood:	n/a	n/a
50	CREB1	chr15:40856690-40857659	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40857259-40857309	MCF-7	breast:	n/a
2	chr15:40857259-40857309	BE2_C	brain:	n/a
3	chr15:40857259-40857309	HAEpiC	amniotic membrane:	n/a
4	chr15:40857259-40857309	HCT-116	colon:	n/a
5	chr15:40857259-40857309	GM12891	blood:	n/a
6	chr15:40857259-40857309	NH-A	brain:	n/a
7	chr15:40857259-40857309	LNCaP	prostate:	n/a
8	chr15:40857259-40857309	HRPEpiC	eye:	n/a
9	chr15:40857259-40857309	Caco-2	colon:	n/a
10	chr15:40857259-40857309	BJ	skin:	n/a
11	chr15:40857259-40857309	NB4	blood:	n/a
12	chr15:40857259-40857309	HEK293	kidney:	embryo
13	chr15:40857259-40857309	Hela-S3	cervix:	n/a
14	chr15:40857259-40857309	HEEpiC	esophagus:	n/a
15	chr15:40857259-40857309	NHBE	bronchial:	n/a
16	chr15:40857259-40857309	ECC-1	luminal epithelium:	n/a
17	chr15:40857259-40857309	HepG2	liver:	n/a
18	chr15:40857259-40857309	PANC-1	pancreas:	n/a
19	chr15:40857259-40857309	K562	blood:	n/a
20	chr15:40857259-40857309	SK-N-SH_RA	brain:	n/a
21	chr15:40857259-40857309	GM12892	blood:	n/a
22	chr15:40857259-40857309	SAEC	small airway:	n/a
23	chr15:40857259-40857309	CMK	blood:	n/a
24	chr15:40857259-40857309	A549	lung:	n/a
25	chr15:40857259-40857309	MCF10A-Er-Src	breast:	n/a
26	chr15:40857259-40857309	PrEC	prostate:	n/a
27	chr15:40857259-40857309	HRCEpiC	kidney:	n/a
28	chr15:40857259-40857309	HRE	kidney:	n/a
29	chr15:40857259-40857309	Hepatocyte	liver:	n/a
30	chr15:40857259-40857309	AG04449	skin:	fetal
31	chr15:40857259-40857309	HCM	heart:	n/a
32	chr15:40857259-40857309	ovcar-3	ovarian:	n/a
33	chr15:40857259-40857309	HNPCEpiC	eye:	n/a
34	chr15:40857259-40857309	AG09319	gingival:	n/a
35	chr15:40857259-40857309	PFSK-1	brain:	n/a
36	chr15:40857259-40857309	HPAEpiC	pulmonary alveolar:	n/a
37	chr15:40857259-40857309	HIPEpiC	eye:	n/a
38	chr15:40857259-40857309	HCPEpiC	choroid plexus:	n/a
39	chr15:40857259-40857309	HUVEC	blood vessel:	n/a
40	chr15:40857259-40857309	GM06990	blood:	n/a
41	chr15:40857259-40857309	IMR90	lung:	fetal
42	chr15:40857259-40857309	HL-60	blood:	n/a
43	chr15:40857259-40857309	HCF	heart:	n/a
44	chr15:40857259-40857309	SK-N-SH	brain:	n/a
45	chr15:40857259-40857309	SK-N-MC	brain:	n/a
46	chr15:40857259-40857309	ProgFib	skin:	n/a
47	chr15:40857259-40857309	SKMC	muscle:	n/a
48	chr15:40857259-40857309	AG04450	lung:	fetal
49	chr15:40857259-40857309	Jurkat	blood:	n/a
50	chr15:40857259-40857309	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40856304..40858832-chr15:40886132..40888060,2	K562	blood:
2	chr11:8703863..8704578-chr15:40856398..40857346,2	Hela-S3	cervix:
3	chr10:115613765..115614569-chr15:40856774..40857392,2	NB4	blood:
4	chr12:1058395..1059394-chr15:40856943..40857497,2	Hela-S3	cervix:
5	chr15:40854296..40857804-chr15:40884735..40887632,3	K562	blood:
6	chr1:19811627..19812208-chr15:40856853..40857400,2	HCT-116	colon:
7	chr15:40855952..40857673-chr15:41046204..41048687,2	K562	blood:
8	chr15:40857188..40857959-chr3:38496163..38496835,2	Hela-S3	cervix:
9	chr15:40855657..40859262-chr15:40860971..40863634,5	MCF-7	breast:
10	chr15:40856363..40858923-chr15:41165345..41167356,2	K562	blood:
11	chr11:82782940..82783819-chr15:40856702..40857438,2	Hela-S3	cervix:

Variant related genes	Relation type
C15orf57	TF binding region
RPUSD2	TF binding region
C15orf57	CpG island
RPUSD2	CpG island
ENSG00000137502	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000196865	Chromatin interaction
ENSG00000246067	Chromatin interaction
ENSG00000077549	Chromatin interaction
ENSG00000198924	Chromatin interaction
ENSG00000137812	Chromatin interaction
ENSG00000002016	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000166133	Chromatin interaction
ENSG00000104140	Chromatin interaction
ENSG00000229589	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10444792	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10518696	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10851397	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11070276	1.00[CEU][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070278	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11637275	0.84[AFR][1000 genomes]
rs12442697	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12916218	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1453182	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs1530942	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1530943	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16970734	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16970854	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1801320	1.00[CEU][hapmap]
rs1869303	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1987795	0.91[AMR][1000 genomes]
rs2014367	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2034653	0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2084941	0.82[EUR][1000 genomes]
rs2278887	0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2278889	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290379	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2304579	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs2412528	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2412530	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412533	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2924389	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2959535	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2959547	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3803354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4467046	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4561439	1.00[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4923873	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4923877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4923878	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4923879	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4924473	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4924474	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4924476	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4924482	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57140606	0.92[EUR][1000 genomes]
rs57736474	0.90[EUR][1000 genomes]
rs582736	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs589650	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs607118	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs611933	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs617031	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs623187	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs624486	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs640919	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6492952	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6492953	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6492955	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs651131	0.80[EUR][1000 genomes]
rs667623	0.88[JPT][hapmap]
rs7163648	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7163889	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7164056	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7164166	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7164405	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7167239	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7167922	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7168913	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7168927	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7170073	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7170327	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7170946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396510	0.90[EUR][1000 genomes]
rs73396515	0.90[EUR][1000 genomes]
rs8024579	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8024802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8029208	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8032453	1.00[CEU][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8033739	0.96[EUR][1000 genomes]
rs8034726	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8038350	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8040187	1.00[CEU][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8041816	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8041991	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8043197	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs896797	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs921624	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9284288	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs976402	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9783737	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv832984	chr15:40794391-40998535	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2758378	chr15:40832545-40995111	Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2760026	chr15:40832545-40995111	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4924483	C15orf57	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40855200-40858000	Active TSS	GM12878-XiMat	blood
2	chr15:40855800-40857800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:40855800-40857800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr15:40856000-40857400	Active TSS	HMEC	breast
5	chr15:40856200-40857400	Active TSS	HSMM	muscle
6	chr15:40856200-40857600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:40856200-40857600	Active TSS	Placenta	Placenta
8	chr15:40856200-40857600	Active TSS	NHLF	lung
9	chr15:40856200-40857800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:40856200-40857800	Active TSS	Colonic Mucosa	Colon
11	chr15:40856200-40857800	Active TSS	Right Ventricle	heart
12	chr15:40856200-40857800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr15:40856200-40857800	Active TSS	K562	blood
14	chr15:40856400-40857400	Active TSS	Fetal Brain Male	brain
15	chr15:40856400-40857400	Active TSS	Small Intestine	intestine
16	chr15:40856400-40857600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr15:40856400-40857600	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr15:40856400-40857600	Active TSS	Fetal Intestine Large	intestine
19	chr15:40856400-40857600	Active TSS	Stomach Mucosa	stomach
20	chr15:40856400-40857600	Active TSS	NHDF-Ad	bronchial
21	chr15:40856400-40857800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr15:40856400-40857800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:40856400-40857800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:40856400-40857800	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr15:40856400-40857800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr15:40856400-40857800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:40856400-40857800	Active TSS	Fetal Muscle Trunk	muscle
28	chr15:40856400-40857800	Active TSS	Left Ventricle	heart
29	chr15:40856400-40857800	Active TSS	Ovary	ovary
30	chr15:40856400-40857800	Active TSS	Psoas Muscle	Psoas
31	chr15:40856400-40857800	Active TSS	Right Atrium	heart
32	chr15:40856400-40858000	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr15:40856400-40858000	Active TSS	A549	lung
34	chr15:40856600-40857400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr15:40856600-40857400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:40856600-40857400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:40856600-40857400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr15:40856600-40857400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:40856600-40857400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr15:40856600-40857400	Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr15:40856600-40857400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr15:40856600-40857400	Active TSS	Muscle Satellite Cultured Cells	--
43	chr15:40856600-40857400	Active TSS	Fetal Brain Female	brain
44	chr15:40856600-40857400	Active TSS	Fetal Thymus	thymus
45	chr15:40856600-40857400	Active TSS	Spleen	Spleen
46	chr15:40856600-40857400	Active TSS	Osteobl	bone
47	chr15:40856600-40857600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:40856600-40857600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:40856600-40857600	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr15:40856600-40857600	Active TSS	HUES6 Cell Line	embryonic stem cell

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