Variant report

Variant	rs6986931
Chromosome Location	chr8:67538712-67538713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11986740	1.00[AMR][1000 genomes]
rs11994200	1.00[AMR][1000 genomes]
rs11997510	1.00[AMR][1000 genomes]
rs13280915	1.00[AMR][1000 genomes]
rs35063782	1.00[AMR][1000 genomes]
rs56036237	1.00[AMR][1000 genomes]
rs56856536	1.00[AMR][1000 genomes]
rs58411534	1.00[AMR][1000 genomes]
rs60434307	1.00[AMR][1000 genomes]
rs61349439	1.00[AMR][1000 genomes]
rs6991442	1.00[AMR][1000 genomes]
rs6992429	1.00[AMR][1000 genomes]
rs6997204	1.00[AMR][1000 genomes]
rs6997393	1.00[AMR][1000 genomes]
rs7001834	1.00[AMR][1000 genomes]
rs7001886	1.00[AMR][1000 genomes]
rs7003330	1.00[AMR][1000 genomes]
rs7011698	1.00[AMR][1000 genomes]
rs73691590	1.00[AMR][1000 genomes]
rs73691596	1.00[AMR][1000 genomes]
rs73691602	1.00[AMR][1000 genomes]
rs73693607	1.00[AMR][1000 genomes]
rs73693608	1.00[AMR][1000 genomes]
rs73693609	1.00[AMR][1000 genomes]
rs73693616	1.00[AMR][1000 genomes]
rs73693617	1.00[AMR][1000 genomes]
rs73693618	1.00[AMR][1000 genomes]
rs73693622	1.00[AMR][1000 genomes]
rs73693624	1.00[AMR][1000 genomes]
rs73693628	1.00[AMR][1000 genomes]
rs7816935	0.85[YRI][hapmap]
rs7820637	1.00[AMR][1000 genomes]
rs9694590	1.00[AMR][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67526400-67558000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:67526800-67543400	Weak transcription	HSMM	muscle
3	chr8:67526800-67546000	Weak transcription	NHDF-Ad	bronchial
4	chr8:67526800-67546800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:67527000-67545200	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:67527000-67554000	Weak transcription	NHEK	skin
7	chr8:67533200-67543600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:67533200-67544200	Weak transcription	HMEC	breast
9	chr8:67533200-67545600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:67538200-67544600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:67538200-67545600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:67538400-67538800	Enhancers	Left Ventricle	heart
13	chr8:67538400-67545400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:67538400-67546400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:67538600-67546600	Weak transcription	Psoas Muscle	Psoas
16	chr8:67538600-67546800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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