Variant report

Variant	rs12649614
Chromosome Location	chr4:74586872-74586873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74542033..74544954-chr4:74586027..74588772,2	MCF-7	breast:
2	chr4:74577764..74579440-chr4:74586621..74589129,2	K562	blood:
3	chr4:74586389..74588857-chr4:74593832..74596900,3	MCF-7	breast:
4	chr4:74585068..74587219-chr4:74589272..74591123,2	K562	blood:
5	chr4:74584196..74587310-chr4:74587487..74589753,3	K562	blood:
6	chr4:74586378..74587973-chr4:74597015..74599181,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10025373	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10029200	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10938089	0.88[ASN][1000 genomes]
rs10938091	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11722921	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11938646	0.88[ASN][1000 genomes]
rs1247605	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247607	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247608	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247611	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247620	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247633	0.88[ASN][1000 genomes]
rs1247634	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1247635	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1247639	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1247687	0.91[ASN][1000 genomes]
rs1247689	0.88[ASN][1000 genomes]
rs12508451	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1261935	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12642878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643148	0.91[ASN][1000 genomes]
rs12646031	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1269764	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1269766	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1358594	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1406498	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1528910	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1528912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1528913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1729722	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1745246	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1951702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1951703	0.90[ASN][1000 genomes]
rs1951704	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1951705	0.90[ASN][1000 genomes]
rs2091587	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2141467	0.91[ASN][1000 genomes]
rs2141468	0.88[ASN][1000 genomes]
rs2178291	0.91[ASN][1000 genomes]
rs2367273	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2886918	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3796679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4127802	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4259030	0.87[ASN][1000 genomes]
rs4568212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4637366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4694633	0.90[ASN][1000 genomes]
rs56785010	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61101665	0.91[ASN][1000 genomes]
rs6446950	0.80[ASN][1000 genomes]
rs6446951	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6446953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6446954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6818711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6836038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6857472	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs720702	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72865497	0.91[ASN][1000 genomes]
rs72865502	0.91[ASN][1000 genomes]
rs7655660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7656608	0.88[ASN][1000 genomes]
rs7657356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7657358	0.91[ASN][1000 genomes]
rs7660448	0.88[ASN][1000 genomes]
rs7660923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7665606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7678307	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7681924	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681932	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7682745	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7683759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689702	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs942051	0.91[ASN][1000 genomes]
rs9991585	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1005231	chr4:74555497-74680079	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74580200-74587200	Weak transcription	NHEK	skin
2	chr4:74581600-74589400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr4:74581800-74588600	Weak transcription	K562	blood
4	chr4:74583600-74588000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr4:74583600-74589200	Enhancers	NHDF-Ad	bronchial
6	chr4:74583800-74587400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:74584800-74591000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:74585000-74587200	Weak transcription	HSMM	muscle
9	chr4:74585000-74591600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:74585200-74587200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:74585200-74587200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:74585200-74587400	Weak transcription	HMEC	breast
13	chr4:74585200-74587400	Weak transcription	HUVEC	blood vessel
14	chr4:74585200-74587400	Weak transcription	NH-A	brain
15	chr4:74585200-74588000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr4:74585400-74587400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:74585400-74587400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr4:74585800-74587000	Enhancers	Primary B cells from cord blood	blood
19	chr4:74586000-74587400	Weak transcription	Hela-S3	cervix
20	chr4:74586600-74589200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:74586800-74587000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:74586800-74587600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr4:74586800-74587600	Enhancers	Placenta	Placenta
24	chr4:74586800-74588600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:74586800-74588800	Enhancers	Osteobl	bone
26	chr4:74586800-74589000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:74586800-74589400	Enhancers	Muscle Satellite Cultured Cells	--

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