Variant report

Variant	rs2313962
Chromosome Location	chr6:76256586-76256587
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1091353	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1391559	0.80[AMR][1000 genomes]
rs1414590	0.81[AFR][1000 genomes]
rs1414594	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1577587	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1582100	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17529743	0.87[ASN][1000 genomes]
rs1932522	0.88[AFR][1000 genomes]
rs2027188	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2297698	0.86[ASN][1000 genomes]
rs2312930	0.81[AFR][1000 genomes]
rs276689	0.80[AMR][1000 genomes]
rs2842534	0.80[AMR][1000 genomes]
rs2842565	0.80[AMR][1000 genomes]
rs2842566	0.80[AMR][1000 genomes]
rs2842567	0.80[AMR][1000 genomes]
rs2842568	0.80[AMR][1000 genomes]
rs4706593	0.81[AFR][1000 genomes]
rs4706594	0.88[AFR][1000 genomes]
rs490948	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs498753	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs499527	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs507662	0.80[AMR][1000 genomes]
rs511900	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs525178	0.87[ASN][1000 genomes]
rs572118	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs603301	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs621530	0.83[ASN][1000 genomes]
rs657638	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs661612	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs664019	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs671806	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs678985	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs696645	0.80[AMR][1000 genomes]
rs699170	0.80[AMR][1000 genomes]
rs775057	0.80[AMR][1000 genomes]
rs775058	0.80[AMR][1000 genomes]
rs775061	0.80[AMR][1000 genomes]
rs775073	0.80[AMR][1000 genomes]
rs775076	0.80[AMR][1000 genomes]
rs9359126	0.90[AFR][1000 genomes]
rs9447508	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][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	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
6	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv603770	chr6:76200514-76277296	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1023331	chr6:76238459-76482117	Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv538315	chr6:76238459-76482117	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv1017542	chr6:76238459-76537447	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76255400-76256600	Enhancers	A549	lung
2	chr6:76255600-76256600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:76256200-76256800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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