Variant report

Variant	rs2351530
Chromosome Location	chr6:74555059-74555060
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1109492	0.98[EUR][1000 genomes]
rs1437576	0.94[EUR][1000 genomes]
rs1437578	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1437579	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1437580	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2917887	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3005518	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3012519	0.94[EUR][1000 genomes]
rs3012541	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3012542	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3012543	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60325463	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61177408	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925443	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6930164	0.85[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	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	chr6:74534400-74580600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:74542400-74566800	Weak transcription	HMEC	breast
5	chr6:74551000-74555800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:74551400-74556800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:74551400-74557400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:74551400-74557600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:74551400-74557600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:74552800-74555200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr6:74552800-74555400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:74552800-74567600	Weak transcription	NHDF-Ad	bronchial
13	chr6:74553200-74556000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr6:74553600-74555600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:74554200-74566800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:74554800-74555400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr6:74554800-74555600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:74555000-74565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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

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