Variant report

Variant	rs2496690
Chromosome Location	chr6:81346504-81346505
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1077898	0.96[ASN][1000 genomes]
rs1584895	0.89[ASN][1000 genomes]
rs1823894	0.82[ASN][1000 genomes]
rs1902066	0.90[AFR][1000 genomes]
rs2444815	0.90[ASN][1000 genomes]
rs2444825	0.89[ASN][1000 genomes]
rs2496691	0.92[ASN][1000 genomes]
rs2496694	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2503751	0.96[ASN][1000 genomes]
rs2503755	0.93[ASN][1000 genomes]
rs3889467	0.96[ASN][1000 genomes]
rs3937697	0.81[ASN][1000 genomes]
rs4571527	0.85[ASN][1000 genomes]
rs57540058	0.88[ASN][1000 genomes]
rs61575833	0.81[ASN][1000 genomes]
rs62424469	0.94[ASN][1000 genomes]
rs62424471	0.82[ASN][1000 genomes]
rs6929266	0.81[ASN][1000 genomes]
rs6941965	0.89[ASN][1000 genomes]
rs748215	0.96[ASN][1000 genomes]
rs7743121	0.99[ASN][1000 genomes]
rs9352846	0.96[ASN][1000 genomes]
rs9361631	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531333	chr6:81042427-81836484	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1019670	chr6:81086504-81569984	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv915714	chr6:81134888-81366749	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1020533	chr6:81288890-81406533	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv538340	chr6:81288890-81406533	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv604085	chr6:81297890-81439973	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1015520	chr6:81309213-81374699	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv886314	chr6:81341175-81379791	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81333000-81348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:81346200-81346600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:81346200-81349400	Enhancers	Osteobl	bone
4	chr6:81346200-81349600	Enhancers	NHLF	lung
5	chr6:81346400-81347000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:81346400-81347200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:81346400-81349200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:81346400-81349200	Enhancers	NHDF-Ad	bronchial

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