Variant report

Variant	rs61339042
Chromosome Location	chr2:178774487-178774488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16823484	1.00[AFR][1000 genomes]
rs16865818	0.88[AFR][1000 genomes]
rs16865821	0.88[AFR][1000 genomes]
rs16865903	0.89[AFR][1000 genomes]
rs57019461	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57352786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57715307	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57890101	1.00[AMR][1000 genomes]
rs58779934	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60586489	1.00[AMR][1000 genomes]
rs61448024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61541689	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6708449	0.96[AFR][1000 genomes]
rs6717171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6733229	0.96[AFR][1000 genomes]
rs6750238	0.92[AFR][1000 genomes]
rs7578601	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7586771	1.00[AMR][1000 genomes]
rs9679242	1.00[AMR][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	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178765800-178774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:178768600-178780000	Weak transcription	Psoas Muscle	Psoas
3	chr2:178770600-178774600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:178772800-178774600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:178773200-178774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:178773400-178774800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:178773800-178774800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:178774000-178775000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:178774200-178774800	Enhancers	Fetal Kidney	kidney
10	chr2:178774200-178775800	Enhancers	HMEC	breast
11	chr2:178774200-178776000	Enhancers	NHEK	skin
12	chr2:178774400-178774800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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

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