Variant report

Variant	rs11996543
Chromosome Location	chr8:100662506-100662507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100662125..100664863-chr8:100667158..100669715,2	MCF-7	breast:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10504990	0.94[EUR][1000 genomes]
rs10504991	0.94[EUR][1000 genomes]
rs10504992	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11984855	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11987013	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11987034	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11988133	0.94[EUR][1000 genomes]
rs11989649	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11992424	0.82[EUR][1000 genomes]
rs11992778	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11994623	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1349244	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1349245	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1449786	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1449790	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1449791	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1552443	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs16897410	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16897439	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16897488	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16897504	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16897573	1.00[CHB][hapmap]
rs16897656	0.94[EUR][1000 genomes]
rs16897662	0.94[EUR][1000 genomes]
rs16897666	0.94[EUR][1000 genomes]
rs16897685	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16897701	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16897702	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16897708	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16897713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16897726	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16897728	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17331148	0.94[EUR][1000 genomes]
rs1979115	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1979117	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2067529	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2084554	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2084555	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2100220	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2122341	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2167101	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2871953	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28847009	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4288349	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4342557	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4531021	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4734434	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734435	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4734436	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4734437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4734438	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4734439	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4735616	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735622	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735623	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735624	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735631	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735632	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735634	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735635	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735636	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4735637	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4735638	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4735642	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4735644	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4735645	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4735646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56912854	0.89[AMR][1000 genomes]
rs57753543	0.94[EUR][1000 genomes]
rs61753724	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7003135	0.91[EUR][1000 genomes]
rs7008629	0.82[EUR][1000 genomes]
rs7008833	0.82[EUR][1000 genomes]
rs73271394	0.88[EUR][1000 genomes]
rs73273207	0.91[EUR][1000 genomes]
rs7387462	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7387700	0.82[EUR][1000 genomes]
rs7832916	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7833256	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7833870	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs921313	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1022914	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv539695	chr8:100190356-100720313	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv891226	chr8:100295634-100708595	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv891227	chr8:100295634-100743556	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1019256	chr8:100336249-100852803	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv539698	chr8:100336249-100852803	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	esv2758167	chr8:100404151-100838624	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
9	esv2759633	chr8:100404151-100838624	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1029616	chr8:100442135-100796643	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1023922	chr8:100474230-100702005	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
12	nsv831408	chr8:100523523-100721507	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1033795	chr8:100557344-100666640	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv611813	chr8:100635915-100682615	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv1850143	chr8:100650034-100692370	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv1817528	chr8:100653252-100685771	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100631600-100683800	Weak transcription	Aorta	Aorta
2	chr8:100643400-100676800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:100645800-100674800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:100646600-100686400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:100646800-100674400	Weak transcription	Dnd41	blood
6	chr8:100647000-100667000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:100647000-100667200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr8:100647000-100667800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr8:100647200-100667000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:100647400-100667200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr8:100648400-100675600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr8:100650000-100673600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:100650000-100675200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:100650000-100680800	Weak transcription	NHDF-Ad	bronchial
15	chr8:100650000-100681000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:100651400-100669000	Weak transcription	Fetal Intestine Small	intestine
17	chr8:100651800-100683000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:100654400-100682200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:100655800-100667600	Weak transcription	Ovary	ovary
20	chr8:100655800-100679000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:100655800-100685000	Weak transcription	Primary B cells from cord blood	blood
22	chr8:100656000-100674800	Weak transcription	Left Ventricle	heart
23	chr8:100656000-100694400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:100656200-100673600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:100656200-100675400	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr8:100656400-100674800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:100657800-100665600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:100658200-100664000	Weak transcription	Fetal Lung	lung
29	chr8:100658200-100667000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr8:100659200-100667800	Weak transcription	Lung	lung
31	chr8:100660800-100668000	Weak transcription	K562	blood
32	chr8:100661200-100662600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:100662200-100666800	Weak transcription	Thymus	Thymus
34	chr8:100662200-100684800	Weak transcription	Primary T cells from cord blood	blood

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