Variant report

Variant	rs9343083
Chromosome Location	chr6:74551595-74551596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10498894	1.00[ASW][hapmap]
rs1392916	0.86[JPT][hapmap]
rs16884120	1.00[ASW][hapmap]
rs16884139	1.00[CEU][hapmap]
rs1837079	0.83[ASN][1000 genomes]
rs2917864	0.83[ASN][1000 genomes]
rs3005488	0.82[ASN][1000 genomes]
rs3005490	0.80[ASN][1000 genomes]
rs6907830	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9343081	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9343085	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9352034	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs997766	1.00[ASW][hapmap]

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	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
2	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
3	nsv463154	chr6:74412048-74775904	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv603695	chr6:74412048-74775904	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74526400-74565000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:74528600-74557000	Weak transcription	Primary T cells from cord blood	blood
3	chr6:74531200-74553400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:74534400-74580600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:74541000-74552800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:74542400-74566800	Weak transcription	HMEC	breast
7	chr6:74543600-74553600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:74545000-74552200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:74551000-74551600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr6:74551000-74552800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:74551000-74555800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:74551400-74551800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:74551400-74551800	Strong transcription	Primary hematopoietic stem cells	blood
14	chr6:74551400-74552800	Strong transcription	NHDF-Ad	bronchial
15	chr6:74551400-74556800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:74551400-74557400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:74551400-74557600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:74551400-74557600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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