Variant report

Variant	rs3912466
Chromosome Location	chr6:80122636-80122637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs196686	0.99[ASN][1000 genomes]
rs196687	0.90[ASN][1000 genomes]
rs196688	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs196691	0.85[EUR][1000 genomes]
rs3843505	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3846736	0.80[ASN][1000 genomes]
rs3846738	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1030126	chr6:80113449-80209165	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80113400-80122800	Weak transcription	Fetal Lung	lung
2	chr6:80116200-80131600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:80120600-80123600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr6:80121200-80123400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:80121400-80122800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:80121400-80123200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:80121400-80129800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:80121600-80122800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:80121600-80122800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:80121800-80122800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:80121800-80122800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:80121800-80124200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:80122600-80124000	Enhancers	HUES6 Cell Line	embryonic stem cell

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Input of quick search could be:

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

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