Variant report

Variant	rs7743912
Chromosome Location	chr6:73467087-73467088
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12110561	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2223940	0.84[AMR][1000 genomes]
rs7749542	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7749632	1.00[MEX][hapmap]
rs7765507	1.00[MEX][hapmap]
rs9293908	1.00[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9293912	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9442843	0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9442844	1.00[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9442846	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023809	chr6:73157813-73477997	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv538303	chr6:73157813-73477997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830689	chr6:73385557-73544404	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830690	chr6:73391428-73574304	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv886154	chr6:73442239-73471683	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73452600-73469800	Weak transcription	Aorta	Aorta
2	chr6:73460000-73468800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:73460000-73469600	Weak transcription	HSMM	muscle
4	chr6:73460400-73468600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:73461000-73468800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:73464600-73469800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:73465200-73469800	Enhancers	Fetal Heart	heart
8	chr6:73465600-73470400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:73465800-73468200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:73466200-73467200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr6:73466200-73469200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:73467000-73467200	Enhancers	NHEK	skin
13	chr6:73467000-73467200	Enhancers	Osteobl	bone
14	chr6:73467000-73467400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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

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