Variant report

Variant	rs1996521
Chromosome Location	chr17:45422733-45422734
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45422002..45424871-chr17:45443232..45445313,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10514925	0.84[ASW][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs10514928	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]
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]
rs16941923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941928	0.84[ASW][hapmap];1.00[LWK][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs2125872	0.87[AFR][1000 genomes]
rs2136752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35556231	0.93[AFR][1000 genomes]
rs3736439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3736440	0.93[AFR][1000 genomes]
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];0.89[MEX][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes]
rs4284698	0.93[AFR][1000 genomes]
rs4305137	0.90[EUR][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	0.95[EUR][1000 genomes]
rs55693255	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55756546	0.93[AFR][1000 genomes]
rs55853213	0.83[AMR][1000 genomes];0.97[EUR][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	0.95[EUR][1000 genomes]
rs57303096	0.81[EUR][1000 genomes]
rs57517411	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57711420	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58221919	0.95[EUR][1000 genomes]
rs58568239	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58988897	0.93[AFR][1000 genomes]
rs59134940	0.87[AFR][1000 genomes]
rs59376508	0.90[EUR][1000 genomes]
rs59437802	0.93[AFR][1000 genomes]
rs59512479	0.90[EUR][1000 genomes]
rs59769748	0.93[AFR][1000 genomes]
rs59850765	0.90[EUR][1000 genomes]
rs59851684	0.87[AFR][1000 genomes]
rs60843765	0.90[EUR][1000 genomes]
rs61097898	0.93[AFR][1000 genomes]
rs61219318	0.95[EUR][1000 genomes]
rs71141906	0.84[EUR][1000 genomes]
rs72825640	0.95[EUR][1000 genomes]
rs72825642	0.95[EUR][1000 genomes]
rs72825645	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72825647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72825648	0.95[EUR][1000 genomes]
rs72825655	0.93[AFR][1000 genomes]
rs72825656	0.93[AFR][1000 genomes]
rs72825658	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825661	0.93[AFR][1000 genomes]
rs72825663	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825665	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825666	0.87[AFR][1000 genomes]
rs72825679	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72825681	0.93[AFR][1000 genomes]
rs72825683	0.93[AFR][1000 genomes]
rs72825685	0.97[EUR][1000 genomes]
rs72825686	0.90[AFR][1000 genomes]
rs72825688	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][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	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72829615	0.93[AFR][1000 genomes]
rs72829616	0.97[EUR][1000 genomes]
rs72829618	0.93[AFR][1000 genomes]
rs72829619	0.93[AFR][1000 genomes]
rs72829623	0.93[AFR][1000 genomes]
rs72829624	0.95[EUR][1000 genomes]
rs72829627	0.95[EUR][1000 genomes]
rs72829628	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72829629	0.93[AFR][1000 genomes]
rs72829631	0.95[EUR][1000 genomes]
rs72829632	0.95[EUR][1000 genomes]
rs72829633	0.95[EUR][1000 genomes]
rs72829634	0.95[EUR][1000 genomes]
rs72829636	0.93[AFR][1000 genomes]
rs72829640	0.93[AFR][1000 genomes]
rs72829641	0.95[EUR][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	0.88[EUR][1000 genomes]
rs72829661	0.87[AFR][1000 genomes]
rs72829670	0.90[EUR][1000 genomes]
rs72829671	0.90[EUR][1000 genomes]
rs7501838	0.84[ASW][hapmap];0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs8077042	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv962445	chr17:45397004-45428018	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv1818362	chr17:45419139-45499396	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45402000-45428600	Weak transcription	Spleen	Spleen
2	chr17:45402000-45442600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:45402200-45446400	Weak transcription	Colon Smooth Muscle	Colon
4	chr17:45402200-45500800	Weak transcription	Aorta	Aorta
5	chr17:45402400-45423400	Weak transcription	NHDF-Ad	bronchial
6	chr17:45402400-45424200	Weak transcription	Fetal Brain Male	brain
7	chr17:45402400-45427200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr17:45402400-45428400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr17:45402400-45433600	Weak transcription	Fetal Heart	heart
10	chr17:45402400-45433600	Weak transcription	Fetal Intestine Small	intestine
11	chr17:45402400-45433600	Weak transcription	Fetal Stomach	stomach
12	chr17:45402400-45435800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr17:45402400-45436000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr17:45402600-45423000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr17:45402600-45423400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:45402600-45424600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr17:45402600-45428800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr17:45402800-45440800	Weak transcription	Primary T cells from cord blood	blood
19	chr17:45403000-45429400	Weak transcription	Placenta	Placenta
20	chr17:45407600-45435800	Weak transcription	Fetal Intestine Large	intestine
21	chr17:45409200-45425200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:45411200-45424000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr17:45411600-45468200	Weak transcription	Left Ventricle	heart
24	chr17:45412400-45463400	Weak transcription	Gastric	stomach
25	chr17:45413400-45423800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:45413400-45463800	Weak transcription	Ovary	ovary
27	chr17:45417000-45423000	Weak transcription	Lung	lung
28	chr17:45418600-45425000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr17:45419200-45423200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr17:45419600-45423000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:45419600-45425000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr17:45420000-45422800	Weak transcription	Fetal Lung	lung
33	chr17:45420000-45424600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr17:45420600-45423200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr17:45421600-45423000	Strong transcription	Adipose Nuclei	Adipose
36	chr17:45421600-45423000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr17:45421600-45423200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr17:45421600-45423200	Strong transcription	Primary B cells from cord blood	blood
39	chr17:45421800-45449800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:45422000-45433200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr17:45422400-45423000	Strong transcription	Liver	Liver
42	chr17:45422400-45423200	Strong transcription	Duodenum Mucosa	Duodenum
43	chr17:45422600-45423400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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