Variant report

Variant	rs17138531
Chromosome Location	chr6:4589097-4589098
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11962071	1.00[ASN][1000 genomes]
rs11962707	0.98[ASN][1000 genomes]
rs11963606	0.97[ASN][1000 genomes]
rs17138481	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2016920	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs382186	0.81[ASN][1000 genomes]
rs4140436	1.00[EUR][1000 genomes]
rs420580	0.81[ASN][1000 genomes]
rs58440707	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58819824	1.00[EUR][1000 genomes]
rs58901337	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59123449	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59130603	1.00[EUR][1000 genomes]
rs59668969	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61626939	0.94[ASN][1000 genomes]
rs61693763	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73359389	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73717400	0.94[ASN][1000 genomes]
rs73719818	0.98[ASN][1000 genomes]
rs73719819	0.98[ASN][1000 genomes]
rs73719822	0.98[ASN][1000 genomes]
rs7747007	0.81[ASN][1000 genomes]
rs7751465	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7755263	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7764506	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7768719	1.00[EUR][1000 genomes];0.95[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	esv3421990	chr6:4446933-4659639	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830576	chr6:4447554-4610604	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv883415	chr6:4546491-4629654	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4581800-4590000	Enhancers	Placenta	Placenta
2	chr6:4582400-4595400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:4584400-4593800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:4587000-4589400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:4587200-4593800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:4587400-4589400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:4587400-4589400	Weak transcription	HMEC	breast
8	chr6:4587400-4589400	Weak transcription	HSMMtube	muscle
9	chr6:4587400-4589400	Weak transcription	NHEK	skin
10	chr6:4587600-4589600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:4588000-4589400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:4589000-4589600	Enhancers	Esophagus	oesophagus

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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