Variant report

Variant	rs2445699
Chromosome Location	chr8:95346517-95346518
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10109060	0.82[EUR][1000 genomes]
rs1023766	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs1379246	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1580498	0.86[AMR][1000 genomes]
rs1598713	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs16916788	0.80[TSI][hapmap]
rs1813167	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2046665	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2046666	0.93[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2099788	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2119460	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs2246066	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.95[YRI][hapmap];0.80[AMR][1000 genomes]
rs2256748	0.91[AFR][1000 genomes]
rs2291439	0.80[CEU][hapmap]
rs2445700	0.89[AFR][1000 genomes]
rs2445703	0.87[AFR][1000 genomes]
rs2445721	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2445728	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2445729	0.91[AFR][1000 genomes]
rs2445730	0.91[AFR][1000 genomes]
rs2445731	0.91[AFR][1000 genomes]
rs2448919	0.91[AFR][1000 genomes]
rs2450554	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2450556	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2450558	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2450572	0.89[CEU][hapmap];0.80[AMR][1000 genomes]
rs2450578	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2450580	1.00[CEU][hapmap]
rs2470714	0.91[AFR][1000 genomes]
rs2470715	0.91[AFR][1000 genomes]
rs2470716	0.91[AFR][1000 genomes]
rs2470718	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2470728	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2470731	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2470732	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2470735	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2470739	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2470740	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2470742	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2470746	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2515098	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2515099	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2515100	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2515123	0.90[AFR][1000 genomes]
rs2515124	0.91[AFR][1000 genomes]
rs2515153	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2515154	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2515155	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2515156	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2515157	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2515161	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2515165	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2515167	0.87[AFR][1000 genomes]
rs28413800	0.81[EUR][1000 genomes]
rs2919654	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2921385	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs2921387	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs2930967	0.86[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap]
rs2930969	1.00[CHB][hapmap]
rs3098718	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3098725	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3099398	0.86[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap]
rs3099407	1.00[CHB][hapmap]
rs3099412	1.00[CHB][hapmap]
rs3102841	1.00[CHB][hapmap]
rs3133648	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs4735288	0.82[EUR][1000 genomes]
rs67639046	0.81[EUR][1000 genomes]
rs6997115	0.82[EUR][1000 genomes]
rs71504369	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7824722	0.86[EUR][1000 genomes]
rs7831073	0.81[EUR][1000 genomes]
rs935052	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap]
rs957446	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs981616	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95344000-95352400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:95344200-95347800	Weak transcription	A549	lung
3	chr8:95346200-95346600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:95346200-95346600	Enhancers	NHEK	skin
5	chr8:95346200-95347400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:95346200-95347600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:95346400-95346600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:95346400-95346600	Enhancers	NHDF-Ad	bronchial
9	chr8:95346400-95346800	Enhancers	Rectal Smooth Muscle	rectum
10	chr8:95346400-95346800	Enhancers	Stomach Smooth Muscle	stomach
11	chr8:95346400-95348000	Weak transcription	NHLF	lung

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