Variant report

Variant	rs2100220
Chromosome Location	chr8:100697462-100697463
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10504990	0.85[EUR][1000 genomes]
rs10504991	0.85[EUR][1000 genomes]
rs10504992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs11987013	0.85[EUR][1000 genomes]
rs11987034	0.85[EUR][1000 genomes]
rs11988133	0.85[EUR][1000 genomes]
rs11989649	0.82[EUR][1000 genomes]
rs11992778	0.85[EUR][1000 genomes]
rs11994623	0.85[EUR][1000 genomes]
rs11996543	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1349244	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1349245	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1449786	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1449790	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1449791	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1552443	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs16892266	0.91[YRI][hapmap]
rs16897410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs16897424	0.83[YRI][hapmap]
rs16897438	0.83[YRI][hapmap]
rs16897439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs16897488	0.85[EUR][1000 genomes]
rs16897504	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16897573	1.00[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs16897581	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16897612	0.83[YRI][hapmap]
rs16897621	0.91[YRI][hapmap]
rs16897656	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16897662	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16897666	0.97[EUR][1000 genomes]
rs16897685	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16897701	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16897702	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16897708	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16897713	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16897718	0.91[YRI][hapmap]
rs16897726	0.89[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16897728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17331148	0.97[EUR][1000 genomes]
rs1979115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1979116	0.91[YRI][hapmap]
rs1979117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2067529	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs2084554	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084555	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2122341	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2167101	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2871953	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28847009	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4288349	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4342557	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4531021	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4734434	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4734435	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734436	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4734438	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4734439	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4735616	0.85[EUR][1000 genomes]
rs4735622	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735623	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735624	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735631	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4735632	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735633	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4735634	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735635	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735636	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735637	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4735638	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4735642	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4735644	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4735645	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4735646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56912854	0.94[AMR][1000 genomes]
rs57753543	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61753724	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003135	0.94[EUR][1000 genomes]
rs73271394	0.91[EUR][1000 genomes]
rs73273207	0.94[EUR][1000 genomes]
rs7387462	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7832916	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs7833256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs7833870	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs896008	0.91[YRI][hapmap]
rs921313	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100675400-100706000	Weak transcription	Left Ventricle	heart
2	chr8:100687000-100739800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:100688400-100708200	Weak transcription	HSMMtube	muscle
4	chr8:100688600-100705600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:100688800-100697600	Weak transcription	Primary T cells from cord blood	blood
6	chr8:100688800-100698200	Weak transcription	Fetal Stomach	stomach
7	chr8:100688800-100698200	Weak transcription	Ovary	ovary
8	chr8:100688800-100698400	Weak transcription	Aorta	Aorta
9	chr8:100688800-100698800	Weak transcription	Gastric	stomach
10	chr8:100688800-100704600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:100688800-100711400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:100688800-100716000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:100689000-100698800	Weak transcription	Thymus	Thymus
14	chr8:100692000-100698000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:100692000-100698400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:100692000-100711800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:100692400-100698200	Weak transcription	Stomach Mucosa	stomach
18	chr8:100692800-100698800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:100695200-100698000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:100695200-100698000	Weak transcription	HMEC	breast
21	chr8:100695200-100708200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:100695200-100709800	Weak transcription	Pancreas	Pancrea
23	chr8:100696000-100698400	ZNF genes & repeats	Fetal Lung	lung
24	chr8:100696000-100700000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:100696600-100697600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
26	chr8:100696600-100698200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:100696800-100697600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr8:100697000-100697800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:100697200-100698200	ZNF genes & repeats	Primary B cells from cord blood	blood
30	chr8:100697400-100697800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
31	chr8:100697400-100698200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
32	chr8:100697400-100698400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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