Variant report

Variant	rs6984689
Chromosome Location	chr8:91713109-91713110
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	TCF7L2	chr8:91713054-91713821	Hela-S3	cervix:	n/a	chr8:91713548-91713562 chr8:91713550-91713559
2	JUND	chr8:91713066-91714267	SK-N-SH	brain:	n/a	chr8:91714067-91714076

Variant related genes	Relation type
ENSG00000254182	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10046610	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs10046655	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs10046723	0.83[EUR][1000 genomes]
rs10092379	0.80[ASW][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs10102274	0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs10103195	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs10504897	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes]
rs10504899	0.87[AMR][1000 genomes]
rs10504900	1.00[ASW][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes]
rs11986094	1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[EUR][1000 genomes]
rs11989315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11994308	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16893366	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs16905044	0.83[EUR][1000 genomes]
rs16905150	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16905319	0.87[AMR][1000 genomes]
rs16905331	1.00[ASW][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes]
rs4265146	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs4339599	1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[EUR][1000 genomes]
rs4500048	1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[EUR][1000 genomes]
rs4571698	1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[EUR][1000 genomes]
rs59253454	0.83[AMR][1000 genomes]
rs60664481	0.83[AMR][1000 genomes]
rs60690249	0.83[AMR][1000 genomes]
rs61312544	0.83[AMR][1000 genomes]
rs61441737	0.83[AMR][1000 genomes]
rs6471253	0.83[AMR][1000 genomes]
rs6994987	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs7011031	0.83[AMR][1000 genomes]
rs7011691	1.00[CHB][hapmap]
rs7011692	0.83[EUR][1000 genomes]
rs7013400	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes]
rs7017389	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73301578	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73301581	0.83[EUR][1000 genomes]
rs73301593	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73305518	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73307288	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73311066	0.83[AMR][1000 genomes]
rs73311068	0.83[AMR][1000 genomes]
rs73311083	0.83[AMR][1000 genomes]
rs73311086	0.83[AMR][1000 genomes]
rs73311089	0.83[AMR][1000 genomes]
rs73311093	0.87[AMR][1000 genomes]
rs7815900	1.00[ASW][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.83[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes]
rs7823529	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[LWK][hapmap];0.81[MKK][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9297885	1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 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	chr8:91698800-91721200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:91707400-91713200	Weak transcription	Ovary	ovary
3	chr8:91711000-91714800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:91711200-91713800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:91711200-91714600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:91711200-91715000	Enhancers	Adipose Nuclei	Adipose
7	chr8:91711400-91713800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:91711400-91714000	Enhancers	Colon Smooth Muscle	Colon
9	chr8:91711400-91715000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:91711400-91715000	Enhancers	HMEC	breast
11	chr8:91711400-91715000	Enhancers	NHEK	skin
12	chr8:91711600-91714200	Enhancers	Rectal Smooth Muscle	rectum
13	chr8:91711800-91714800	Enhancers	NHDF-Ad	bronchial
14	chr8:91712200-91713200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr8:91712200-91714600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:91712200-91715000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:91712400-91714200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:91712400-91714600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr8:91712600-91714000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:91712600-91714200	Enhancers	Fetal Intestine Large	intestine
21	chr8:91712600-91714600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:91712600-91714600	Enhancers	NHLF	lung
23	chr8:91712800-91714000	Enhancers	Fetal Intestine Small	intestine
24	chr8:91712800-91714200	Enhancers	Osteobl	bone
25	chr8:91712800-91715000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:91712800-91715200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:91713000-91713400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:91713000-91714000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:91713000-91714000	Enhancers	NH-A	brain
30	chr8:91713000-91714200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:91713000-91714200	Enhancers	HSMM	muscle
32	chr8:91713000-91714400	Enhancers	Hela-S3	cervix

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