Variant report

Variant	rs16956866
Chromosome Location	chr15:72667931-72667932
allele	G/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	POLR2A	chr15:72667887-72668855	U87	brain:	n/a	n/a
2	BCL3	chr15:72667758-72668901	A549	lung:	n/a	chr15:72668836-72668845 chr15:72668458-72668467 chr15:72668455-72668464
3	MYC	chr15:72667899-72668876	K562	blood:	n/a	chr15:72668396-72668407 chr15:72668396-72668405 chr15:72668346-72668355 chr15:72668395-72668408 chr15:72668395-72668408 chr15:72668397-72668406 chr15:72668345-72668356 chr15:72668397-72668406 chr15:72668395-72668408
4	MAZ	chr15:72667913-72668782	K562	blood:	n/a	chr15:72668396-72668407 chr15:72668396-72668405 chr15:72668346-72668355 chr15:72668395-72668408 chr15:72668395-72668408 chr15:72668397-72668406 chr15:72668345-72668356 chr15:72668397-72668406 chr15:72668395-72668408
5	ATF3	chr15:72667915-72668672	K562	blood:	n/a	chr15:72668397-72668417 chr15:72668335-72668355 chr15:72668397-72668406
6	FOSL2	chr15:72667917-72668767	A549	lung:	n/a	n/a
7	POLR2A	chr15:72667908-72668682	HepG2	liver:	n/a	n/a
8	CCNT2	chr15:72667860-72668903	K562	blood:	n/a	n/a
9	POLR2A	chr15:72667867-72669293	GM18505	blood:	n/a	n/a
10	SMARCB1	chr15:72667842-72668795	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr15:72667903-72668778	GM12878	blood:	n/a	n/a
12	ETS1	chr15:72667840-72668822	A549	lung:	n/a	chr15:72668458-72668467 chr15:72668455-72668470 chr15:72668458-72668467 chr15:72668458-72668467 chr15:72668457-72668470 chr15:72668458-72668467 chr15:72668458-72668467 chr15:72667932-72667939 chr15:72667932-72667943 chr15:72668455-72668471 chr15:72668456-72668466
13	SPI1	chr15:72667837-72668067	K562	blood:	n/a	chr15:72667928-72667941
14	CREB1	chr15:72667850-72668836	HepG2	liver:	n/a	n/a
15	CREB1	chr15:72667893-72668699	A549	lung:	n/a	n/a
16	POLR2A	chr15:72667807-72668949	HL-60	blood:	n/a	n/a
17	RELA	chr15:72667883-72668729	GM19099	blood:	n/a	n/a
18	SIN3AK20	chr15:72667815-72669009	MCF-7	breast:	n/a	n/a
19	SMARCC1	chr15:72667732-72668934	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr15:72667858-72668836	GM12878	blood:	n/a	n/a
21	GATA3	chr15:72667883-72668681	MCF-7	breast:	n/a	n/a
22	ELF1	chr15:72667692-72668950	MCF-7	breast:	n/a	n/a
23	SP1	chr15:72667912-72668816	A549	lung:	n/a	n/a
24	USF1	chr15:72667743-72668899	HCT-116	colon:	n/a	chr15:72668397-72668406 chr15:72668398-72668407 chr15:72668397-72668406 chr15:72668391-72668412 chr15:72668395-72668408
25	GABPA	chr15:72667780-72669081	MCF-7	breast:	n/a	chr15:72668416-72668430
26	POLR2A	chr15:72667905-72668692	HCT-116	colon:	n/a	n/a
27	POLR2A	chr15:72667921-72668712	HepG2	liver:	n/a	n/a
28	SIX5	chr15:72667698-72669055	A549	lung:	n/a	chr15:72668790-72668799
29	MAX	chr15:72667770-72668904	HCT-116	colon:	n/a	chr15:72668396-72668407 chr15:72668396-72668405 chr15:72668346-72668355 chr15:72668395-72668408 chr15:72668395-72668408 chr15:72668397-72668406 chr15:72668345-72668356 chr15:72668397-72668406 chr15:72668395-72668408
30	GABPA	chr15:72667872-72668799	SK-N-SH	brain:	n/a	chr15:72668416-72668430
31	TBP	chr15:72667875-72668705	HepG2	liver:	n/a	n/a
32	PAX5	chr15:72667867-72668573	GM12878	blood:	n/a	chr15:72668455-72668464 chr15:72667931-72667940 chr15:72668308-72668327
33	POLR2A	chr15:72667730-72669421	GM12891	blood:	n/a	n/a
34	SP4	chr15:72667854-72668709	H1-hESC	embryonic stem cell:	n/a	n/a
35	TCF12	chr15:72667899-72668826	ECC-1	luminal epithelium:	n/a	n/a
36	SIN3AK20	chr15:72667919-72668789	HCT-116	colon:	n/a	n/a
37	MAX	chr15:72667833-72668828	HepG2	liver:	n/a	chr15:72668396-72668407 chr15:72668396-72668405 chr15:72668346-72668355 chr15:72668395-72668408 chr15:72668395-72668408 chr15:72668397-72668406 chr15:72668345-72668356 chr15:72668397-72668406 chr15:72668395-72668408
38	GABPA	chr15:72667901-72668726	K562	blood:	n/a	chr15:72668416-72668430
39	EP300	chr15:72667924-72668872	A549	lung:	n/a	chr15:72668459-72668466 chr15:72668837-72668844 chr15:72668567-72668583 chr15:72667930-72667939 chr15:72668455-72668469 chr15:72668372-72668381
40	HEY1	chr15:72667824-72668657	HepG2	liver:	n/a	n/a
41	NFIC	chr15:72667931-72668656	HepG2	liver:	n/a	n/a
42	ELF1	chr15:72667646-72669112	MCF-7	breast:	n/a	n/a
43	USF1	chr15:72667675-72668855	SK-N-SH	brain:	n/a	chr15:72668397-72668406 chr15:72668398-72668407 chr15:72668397-72668406 chr15:72668391-72668412 chr15:72668395-72668408
44	USF1	chr15:72667725-72668869	SK-N-SH	brain:	n/a	chr15:72668397-72668406 chr15:72668398-72668407 chr15:72668397-72668406 chr15:72668391-72668412 chr15:72668395-72668408
45	ZNF143	chr15:72667741-72668607	K562	blood:	n/a	n/a
46	USF2	chr15:72667826-72669024	GM12878	blood:	n/a	chr15:72668397-72668406 chr15:72668361-72668372 chr15:72668398-72668407 chr15:72668397-72668406 chr15:72668344-72668355 chr15:72668391-72668412 chr15:72668396-72668407 chr15:72668395-72668408
47	SP1	chr15:72667759-72668836	A549	lung:	n/a	n/a
48	MAX	chr15:72667816-72668875	MCF-7	breast:	n/a	chr15:72668396-72668407 chr15:72668396-72668405 chr15:72668346-72668355 chr15:72668395-72668408 chr15:72668395-72668408 chr15:72668397-72668406 chr15:72668345-72668356 chr15:72668397-72668406 chr15:72668395-72668408
49	POLR2A	chr15:72667929-72668908	GM12892	blood:	n/a	n/a
50	CHD1	chr15:72667866-72669102	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:72667883-72667933	HNPCEpiC	eye:	n/a
2	chr15:72667883-72667933	SK-N-MC	brain:	n/a
3	chr15:72667883-72667933	HMEC	breast:	n/a
4	chr15:72667883-72667933	SK-N-SH	brain:	n/a
5	chr15:72667883-72667933	HRE	kidney:	n/a
6	chr15:72667883-72667933	AG10803	skin:	n/a
7	chr15:72667883-72667933	CMK	blood:	n/a
8	chr15:72667883-72667933	NH-A	brain:	n/a
9	chr15:72667883-72667933	NT2-D1	testis:	n/a
10	chr15:72667883-72667933	SKMC	muscle:	n/a
11	chr15:72667883-72667933	Jurkat	blood:	n/a
12	chr15:72667883-72667933	GM19239	blood:	n/a
13	chr15:72667883-72667933	ECC-1	luminal epithelium:	n/a
14	chr15:72667883-72667933	NB4	blood:	n/a
15	chr15:72667883-72667933	Hepatocyte	liver:	n/a
16	chr15:72667883-72667933	HCPEpiC	choroid plexus:	n/a
17	chr15:72667883-72667933	Hela-S3	cervix:	n/a
18	chr15:72667883-72667933	AG09309	skin:	n/a
19	chr15:72667883-72667933	K562	blood:	n/a
20	chr15:72667883-72667933	GM06990	blood:	n/a
21	chr15:72667883-72667933	HCM	heart:	n/a
22	chr15:72667883-72667933	Caco-2	colon:	n/a
23	chr15:72667883-72667933	HAEpiC	amniotic membrane:	n/a
24	chr15:72667883-72667933	GM12892	blood:	n/a
25	chr15:72667883-72667933	ProgFib	skin:	n/a
26	chr15:72667883-72667933	T-47D	breast:	n/a
27	chr15:72667883-72667933	SK-N-SH_RA	brain:	n/a
28	chr15:72667883-72667933	BJ	skin:	n/a
29	chr15:72667883-72667933	HL-60	blood:	n/a
30	chr15:72667883-72667933	A549	lung:	n/a
31	chr15:72667883-72667933	HepG2	liver:	n/a
32	chr15:72667883-72667933	HRPEpiC	eye:	n/a
33	chr15:72667883-72667933	NHDF-neo	bronchial:	n/a
34	chr15:72667883-72667933	PANC-1	pancreas:	n/a
35	chr15:72667883-72667933	HCF	heart:	n/a
36	chr15:72667883-72667933	ovcar-3	ovarian:	n/a
37	chr15:72667883-72667933	IMR90	lung:	fetal
38	chr15:72667883-72667933	SAEC	small airway:	n/a
39	chr15:72667883-72667933	AoSMC	blood vessel:	n/a
40	chr15:72667883-72667933	PrEC	prostate:	n/a
41	chr15:72667883-72667933	HRCEpiC	kidney:	n/a
42	chr15:72667883-72667933	MCF10A-Er-Src	breast:	n/a
43	chr15:72667883-72667933	U87	brain:	n/a
44	chr15:72667883-72667933	NHBE	bronchial:	n/a
45	chr15:72667883-72667933	HPAEpiC	pulmonary alveolar:	n/a
46	chr15:72667883-72667933	LNCaP	prostate:	n/a
47	chr15:72667883-72667933	BE2_C	brain:	n/a
48	chr15:72667883-72667933	PFSK-1	brain:	n/a
49	chr15:72667883-72667933	HUVEC	blood vessel:	n/a
50	chr15:72667883-72667933	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr15:72666924..72668810-chr17:56735242..56736980,2	MCF-7	breast:
2	chr15:72667845..72668386-chr15:72766555..72767490,2	MCF-7	breast:
3	chr15:72650512..72652405-chr15:72665607..72667984,2	K562	blood:
4	chr15:72666408..72669827-chr15:72764535..72767754,3	MCF-7	breast:
5	chr15:72667344..72672450-chr15:72764755..72768100,8	K562	blood:
6	chr15:72612273..72613953-chr15:72667924..72670021,2	K562	blood:
7	chr15:72666558..72670735-chr15:72765041..72769475,12	MCF-7	breast:
8	chr15:72667863..72668401-chr3:73159932..73160626,2	Hela-S3	cervix:
9	chr15:72660052..72661960-chr15:72663740..72668025,4	MCF-7	breast:
10	chr15:72667335..72670021-chr15:72670916..72672752,3	MCF-7	breast:
11	chr15:72561194..72564093-chr15:72666798..72669351,2	MCF-7	breast:
12	chr15:72667855..72668805-chr19:3506092..3506708,2	Hela-S3	cervix:
13	chr15:72518920..72521207-chr15:72667359..72669171,2	MCF-7	breast:
14	chr15:72667773..72668619-chr7:100026009..100026883,2	NB4	blood:

Variant related genes	Relation type
HEXA-AS1	TF binding region
HEXA-AS1	CpG island
ENSG00000273025	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000140488	Chromatin interaction
ENSG00000243007	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000105325	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000067225	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10518988	0.88[JPT][hapmap]
rs11072376	0.88[JPT][hapmap]
rs12900846	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16956899	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16956988	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs1800430	0.88[YRI][hapmap]
rs1972692	0.87[ASN][1000 genomes]
rs2415135	0.88[JPT][hapmap]
rs2912216	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2912228	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs2959913	0.87[ASN][1000 genomes]
rs3743230	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57155740	0.82[ASN][1000 genomes]
rs58110372	0.82[ASN][1000 genomes]
rs60106752	0.82[ASN][1000 genomes]
rs60207997	0.82[ASN][1000 genomes]
rs7174307	0.82[ASN][1000 genomes]
rs7175437	0.82[ASN][1000 genomes]
rs73442522	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73442536	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73442539	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73442545	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73442549	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73442560	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73442591	0.82[ASN][1000 genomes]
rs73442595	0.82[ASN][1000 genomes]
rs73444703	0.82[ASN][1000 genomes]
rs73444714	0.82[ASN][1000 genomes]
rs73444720	0.82[ASN][1000 genomes]
rs73444723	0.82[ASN][1000 genomes]
rs73444736	0.82[ASN][1000 genomes]
rs73444755	0.82[ASN][1000 genomes]
rs73444759	0.82[ASN][1000 genomes]
rs73444761	0.82[ASN][1000 genomes]
rs73444773	0.82[ASN][1000 genomes]
rs73444774	0.82[ASN][1000 genomes]
rs73444791	0.82[ASN][1000 genomes]
rs73444794	0.82[ASN][1000 genomes]
rs73444798	0.82[ASN][1000 genomes]
rs73444802	0.82[ASN][1000 genomes]
rs73446604	0.82[ASN][1000 genomes]
rs8025088	0.88[JPT][hapmap]
rs8026681	0.88[JPT][hapmap]
rs8031264	0.87[ASN][1000 genomes]
rs8032276	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs8035007	0.82[ASN][1000 genomes]
rs962407	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs9972606	0.87[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	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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	172 gene(s)	inside rSNPs	diseases
4	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv521971	chr15:72666424-72678738	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72666200-72669000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:72666400-72668600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:72666400-72669000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:72666600-72668000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr15:72666600-72669000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:72666600-72669000	Active TSS	Fetal Intestine Small	intestine
7	chr15:72666600-72669200	Active TSS	Fetal Intestine Large	intestine
8	chr15:72666600-72669400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr15:72666800-72668000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr15:72666800-72669400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:72667000-72668000	Flanking Active TSS	Liver	Liver
12	chr15:72667000-72668000	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr15:72667000-72668000	Active TSS	Right Atrium	heart
14	chr15:72667000-72668000	Flanking Active TSS	NHEK	skin
15	chr15:72667000-72668200	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr15:72667000-72668800	Active TSS	Colonic Mucosa	Colon
17	chr15:72667000-72669000	Active TSS	NHDF-Ad	bronchial
18	chr15:72667000-72669200	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr15:72667000-72669400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr15:72667000-72669400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:72667000-72669400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr15:72667000-72669400	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr15:72667200-72668000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:72667200-72668000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr15:72667200-72668000	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr15:72667200-72668000	Flanking Active TSS	Osteobl	bone
27	chr15:72667200-72668200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:72667200-72668200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr15:72667200-72668800	Active TSS	Fetal Brain Female	brain
30	chr15:72667200-72669000	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr15:72667200-72669000	Active TSS	HSMM	muscle
32	chr15:72667200-72669200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr15:72667200-72669200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr15:72667200-72669200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr15:72667200-72669200	Active TSS	HSMMtube	muscle
36	chr15:72667200-72669400	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr15:72667400-72668000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr15:72667400-72668000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:72667400-72668000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr15:72667400-72668000	Flanking Active TSS	Fetal Thymus	thymus
41	chr15:72667400-72668000	Flanking Active TSS	Right Ventricle	heart
42	chr15:72667400-72668200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:72667400-72668800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr15:72667400-72668800	Active TSS	Brain Anterior Caudate	brain
45	chr15:72667400-72668800	Active TSS	Brain Cingulate Gyrus	brain
46	chr15:72667400-72668800	Active TSS	Fetal Kidney	kidney
47	chr15:72667400-72668800	Active TSS	K562	blood
48	chr15:72667400-72668800	Active TSS	NHLF	lung
49	chr15:72667400-72669000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr15:72667400-72669000	Active TSS	Left Ventricle	heart

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