Variant report

Variant	rs597493
Chromosome Location	chr6:143060990-143060991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs513580	0.85[EUR][1000 genomes]
rs522066	0.85[EUR][1000 genomes]
rs529489	0.85[EUR][1000 genomes]
rs538289	0.85[EUR][1000 genomes]
rs576420	0.89[ASN][1000 genomes]
rs578343	0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.89[ASN][1000 genomes]
rs584733	0.95[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs630537	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs643298	0.94[ASN][1000 genomes]
rs654730	0.92[ASN][1000 genomes]
rs657775	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830828	chr6:142970134-143116517	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv981317	chr6:143058282-143069615	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv830829	chr6:143058408-143218077	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143049800-143073200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:143050000-143061600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:143054200-143072800	Weak transcription	Primary T cells from cord blood	blood
4	chr6:143059400-143061400	Weak transcription	NHEK	skin
5	chr6:143059400-143061800	Weak transcription	NHDF-Ad	bronchial
6	chr6:143059400-143072800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:143059400-143080600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:143059600-143074200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:143059800-143072400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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