Variant report

Variant	rs4274583
Chromosome Location	chr2:67538600-67538601
allele	A/G
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:20)

rs_ID	r²[population]
rs1384743	0.85[EUR][1000 genomes]
rs1384744	0.85[EUR][1000 genomes]
rs17603029	0.85[EUR][1000 genomes]
rs2170703	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4605358	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56880806	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58349979	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60181254	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156538	0.85[EUR][1000 genomes]
rs62156540	0.85[EUR][1000 genomes]
rs62156541	0.85[EUR][1000 genomes]
rs62156542	0.86[EUR][1000 genomes]
rs62156547	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62158280	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62158281	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62158282	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6741192	0.89[EUR][1000 genomes]
rs7573357	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7606736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs874236	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67532000-67538800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:67535400-67539400	Enhancers	NHDF-Ad	bronchial
3	chr2:67536400-67539200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:67536400-67539400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:67536800-67538600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:67536800-67538600	Weak transcription	Hela-S3	cervix
7	chr2:67537000-67538600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:67537000-67538800	Weak transcription	A549	lung
9	chr2:67537200-67538800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:67537400-67538600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:67538200-67539000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:67538200-67539200	Enhancers	NH-A	brain
13	chr2:67538200-67539800	Enhancers	NHLF	lung
14	chr2:67538400-67538800	Weak transcription	Fetal Lung	lung
15	chr2:67538600-67538800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:67538600-67538800	Enhancers	Rectal Smooth Muscle	rectum
17	chr2:67538600-67539000	Enhancers	HSMMtube	muscle
18	chr2:67538600-67539200	Enhancers	Colon Smooth Muscle	Colon
19	chr2:67538600-67539400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:67538600-67539400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:67538600-67539400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:67538600-67539400	Enhancers	Stomach Smooth Muscle	stomach
23	chr2:67538600-67539400	Enhancers	HMEC	breast
24	chr2:67538600-67539400	Enhancers	NHEK	skin
25	chr2:67538600-67539400	Enhancers	Osteobl	bone
26	chr2:67538600-67539600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:67538600-67539800	Enhancers	Hela-S3	cervix
28	chr2:67538600-67540600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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