Variant report

Variant	rs693573
Chromosome Location	chr6:147492742-147492743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1031012	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031013	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1221645	0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1660690	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.83[MKK][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2818866	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2818868	0.83[EUR][1000 genomes]
rs559038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs594981	0.81[AMR][1000 genomes]
rs631931	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs652831	0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.95[MKK][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs694625	0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019245	chr6:147350834-147609776	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538467	chr6:147350834-147609776	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886752	chr6:147443480-147729477	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147487200-147493000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr6:147488800-147495400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:147489000-147494200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:147489400-147493000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr6:147489600-147494600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:147490600-147492800	Enhancers	HSMM	muscle
7	chr6:147490800-147492800	Enhancers	HSMMtube	muscle
8	chr6:147490800-147492800	Enhancers	NHLF	lung
9	chr6:147491200-147493600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:147491400-147493000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:147492000-147511400	Weak transcription	Aorta	Aorta
12	chr6:147492200-147494400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:147492400-147494200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:147492400-147498000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:147492600-147495400	Enhancers	K562	blood
16	chr6:147492600-147498000	Weak transcription	NHDF-Ad	bronchial

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

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