Variant report

Variant	rs3012542
Chromosome Location	chr6:74543095-74543096
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	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1437576	0.94[EUR][1000 genomes]
rs1437578	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1437579	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1437580	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2351530	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2917887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3005518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3012519	0.94[EUR][1000 genomes]
rs3012541	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3012543	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60325463	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61177408	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6925443	0.85[EUR][1000 genomes]
rs6930164	0.85[EUR][1000 genomes];0.94[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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74441400-74544400	Weak transcription	Aorta	Aorta
2	chr6:74477400-74543400	Weak transcription	Lung	lung
3	chr6:74514400-74545000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:74514400-74546200	Weak transcription	HSMM	muscle
5	chr6:74521800-74545200	Weak transcription	Osteobl	bone
6	chr6:74526400-74565000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:74528600-74557000	Weak transcription	Primary T cells from cord blood	blood
8	chr6:74531200-74544000	Weak transcription	NHEK	skin
9	chr6:74531200-74553400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:74531400-74545000	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:74532200-74546800	Weak transcription	HUVEC	blood vessel
12	chr6:74533400-74545000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:74534400-74545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:74534400-74580600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:74538000-74545000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:74539600-74543600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:74539600-74545000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:74540000-74543600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:74540800-74545000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:74541000-74552800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:74541400-74543600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:74541400-74543800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:74541800-74543800	Strong transcription	Primary hematopoietic stem cells	blood
24	chr6:74542400-74566800	Weak transcription	HMEC	breast
25	chr6:74542800-74545000	Strong transcription	NHDF-Ad	bronchial
26	chr6:74543000-74545000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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