Variant report

Variant	rs10514928
Chromosome Location	chr17:45503539-45503540
allele	C/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	chr17:45502995-45503922	GM12891	blood:	n/a	n/a
2	POLR2A	chr17:45503357-45503592	H1-hESC	embryonic stem cell:	n/a	n/a
3	EBF1	chr17:45503258-45503545	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:45503153-45503850	GM12892	blood:	n/a	n/a
5	POLR2A	chr17:45502438-45503925	GM12892	blood:	n/a	n/a
6	POLR2A	chr17:45503325-45503696	MCF-7	breast:	n/a	n/a
7	POLR2A	chr17:45503503-45503831	K562	blood:	n/a	n/a
8	POLR2A	chr17:45502453-45503935	GM12878	blood:	n/a	n/a
9	SP1	chr17:45503269-45503555	GM12878	blood:	n/a	n/a
10	POLR2A	chr17:45502573-45503928	GM12892	blood:	n/a	n/a
11	POLR2A	chr17:45503358-45503839	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr17:45503150-45503877	GM12891	blood:	n/a	n/a
13	POLR2A	chr17:45503266-45503988	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr17:45502555-45503754	GM12891	blood:	n/a	n/a
15	POLR2A	chr17:45503093-45503675	GM12892	blood:	n/a	n/a
16	POLR2A	chr17:45503235-45503872	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr17:45503113-45503801	GM12878	blood:	n/a	n/a
18	POLR2A	chr17:45503497-45503583	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45499733..45501782-chr17:45502052..45504438,2	K562	blood:

Variant related genes	Relation type
ENSG00000253347	TF binding region
ENSG00000253347	Chromatin interaction

Extended variants
information (count: 142 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs10514925	0.84[ASW][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs10514929	0.84[ASW][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs11867160	0.84[ASW][hapmap];0.88[LWK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs11867516	0.93[AFR][1000 genomes]
rs11868143	0.93[AFR][1000 genomes]
rs11868497	0.84[ASW][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs11868609	0.93[AFR][1000 genomes]
rs11868623	0.87[AFR][1000 genomes]
rs11869248	0.93[AFR][1000 genomes]
rs11869846	0.93[AFR][1000 genomes]
rs11870833	0.83[AFR][1000 genomes]
rs11871153	0.93[AFR][1000 genomes]
rs11871288	0.86[AFR][1000 genomes]
rs12051795	0.82[YRI][hapmap]
rs16941768	0.91[JPT][hapmap]
rs16941923	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16941928	0.84[ASW][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs1996521	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2125872	0.87[AFR][1000 genomes]
rs2136752	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2136755	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs2175287	0.93[AFR][1000 genomes]
rs2175288	0.84[ASW][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs2292343	0.82[ASW][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs2292345	0.84[ASW][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs2292348	0.84[ASW][hapmap];0.88[LWK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs2305940	0.84[ASW][hapmap];0.88[LWK][hapmap];0.87[AFR][1000 genomes]
rs2317675	0.87[AFR][1000 genomes]
rs28641090	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35556231	0.93[AFR][1000 genomes]
rs3736439	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3736440	0.93[AFR][1000 genomes]
rs3744453	0.83[CHD][hapmap];0.91[JPT][hapmap]
rs3752864	0.84[ASW][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs3883317	0.84[ASW][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs3883318	0.84[ASW][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs3956021	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3968305	0.83[ASN][1000 genomes]
rs4284698	0.93[AFR][1000 genomes]
rs4305137	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4494612	0.84[ASW][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs55641990	0.90[AFR][1000 genomes]
rs55645384	0.93[AFR][1000 genomes]
rs55677939	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55693255	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55756546	0.93[AFR][1000 genomes]
rs55853213	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55873123	0.93[AFR][1000 genomes]
rs55879010	0.93[AFR][1000 genomes]
rs55916275	0.93[AFR][1000 genomes]
rs56089045	0.93[AFR][1000 genomes]
rs56195427	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57303096	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57453618	0.89[ASN][1000 genomes]
rs57517411	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57711420	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58221919	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58568239	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58909422	1.00[ASN][1000 genomes]
rs58988897	0.93[AFR][1000 genomes]
rs59005133	0.96[ASN][1000 genomes]
rs59134940	0.87[AFR][1000 genomes]
rs59376508	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59437802	0.93[AFR][1000 genomes]
rs59512479	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59769748	0.93[AFR][1000 genomes]
rs59850765	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59851684	0.87[AFR][1000 genomes]
rs60768148	0.93[ASN][1000 genomes]
rs60843765	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61097898	0.93[AFR][1000 genomes]
rs61219318	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71141906	0.82[EUR][1000 genomes]
rs7217214	0.91[JPT][hapmap]
rs72825640	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72825642	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72825645	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72825646	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825647	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825648	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72825655	0.93[AFR][1000 genomes]
rs72825656	0.93[AFR][1000 genomes]
rs72825658	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72825661	0.93[AFR][1000 genomes]
rs72825663	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72825665	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72825666	0.87[AFR][1000 genomes]
rs72825679	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825681	0.93[AFR][1000 genomes]
rs72825683	0.93[AFR][1000 genomes]
rs72825685	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72825686	0.90[AFR][1000 genomes]
rs72825688	0.93[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs72825690	0.90[AFR][1000 genomes]
rs72825691	0.93[AFR][1000 genomes]
rs72825692	0.93[AFR][1000 genomes]
rs72825694	0.93[AFR][1000 genomes]
rs72829614	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72829615	0.93[AFR][1000 genomes]
rs72829616	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72829618	0.93[AFR][1000 genomes]
rs72829619	0.93[AFR][1000 genomes]
rs72829623	0.93[AFR][1000 genomes]
rs72829624	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72829627	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72829628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72829629	0.93[AFR][1000 genomes]
rs72829631	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72829632	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72829633	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72829634	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72829636	0.93[AFR][1000 genomes]
rs72829640	0.93[AFR][1000 genomes]
rs72829641	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829642	0.93[AFR][1000 genomes]
rs72829644	0.90[AFR][1000 genomes]
rs72829645	0.93[AFR][1000 genomes]
rs72829651	0.93[AFR][1000 genomes]
rs72829659	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72829661	0.87[AFR][1000 genomes]
rs72829670	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72829671	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72829681	1.00[ASN][1000 genomes]
rs7501838	0.84[ASW][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs8077042	0.89[ASN][1000 genomes]
rs884696	0.91[JPT][hapmap]
rs951351	0.83[CHD][hapmap];0.91[JPT][hapmap]
rs988684	0.83[CHD][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer 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 miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1062096	chr17:45416538-45518683	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv470590	chr17:45419138-45547077	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv457821	chr17:45419139-45547078	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv575462	chr17:45419139-45547078	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv908564	chr17:45422628-45522311	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1801088	chr17:45435575-45522311	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1056191	chr17:45442007-45519072	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv908566	chr17:45465735-45569714	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv1806110	chr17:45477544-45673592	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3419507	chr17:45500407-45506076	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv960118	chr17:45501749-45503835	Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45500600-45511200	Weak transcription	K562	blood
2	chr17:45500800-45506800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr17:45501400-45504800	Weak transcription	A549	lung
4	chr17:45501400-45514600	Weak transcription	Primary T cells from cord blood	blood
5	chr17:45501400-45554200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:45501400-45554400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr17:45501600-45505600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr17:45501600-45509800	Weak transcription	Pancreas	Pancrea
9	chr17:45501600-45511400	Weak transcription	Esophagus	oesophagus
10	chr17:45501600-45511800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr17:45501600-45511800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:45501600-45515600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:45501600-45520200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:45501600-45555400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:45501600-45556400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr17:45501800-45504600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr17:45501800-45504800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:45501800-45505600	Weak transcription	Liver	Liver
19	chr17:45501800-45507800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr17:45501800-45508800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr17:45501800-45511800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr17:45501800-45511800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr17:45501800-45512400	Weak transcription	Primary B cells from cord blood	blood
24	chr17:45501800-45533400	Weak transcription	Gastric	stomach
25	chr17:45501800-45547400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr17:45501800-45550200	Weak transcription	Ovary	ovary
27	chr17:45502000-45504600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr17:45502000-45505000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr17:45502200-45504400	Weak transcription	Fetal Heart	heart
30	chr17:45502200-45504800	Weak transcription	Fetal Intestine Small	intestine
31	chr17:45502200-45506200	Weak transcription	Fetal Lung	lung
32	chr17:45502200-45513600	Weak transcription	Fetal Brain Male	brain
33	chr17:45502200-45548000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:45502400-45503600	Strong transcription	HepG2	liver
35	chr17:45502800-45548600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:45503000-45512000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr17:45503200-45503800	Active TSS	GM12878-XiMat	blood
38	chr17:45503200-45510200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr17:45503200-45511800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr17:45503200-45511800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:45503200-45512200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr17:45503200-45545400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:45503400-45503600	Enhancers	Duodenum Mucosa	Duodenum
44	chr17:45503400-45505600	Weak transcription	Dnd41	blood

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