Variant report

Variant	rs72895607
Chromosome Location	chr2:67539146-67539147
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10172022	0.84[EUR][1000 genomes]
rs10199961	0.85[EUR][1000 genomes]
rs10865359	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12052705	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12053284	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1318886	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385154	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1384745	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17033374	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28373341	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6719169	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72895618	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[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	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67535400-67539400	Enhancers	NHDF-Ad	bronchial
2	chr2:67536400-67539200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:67536400-67539400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr2:67538200-67539200	Enhancers	NH-A	brain
5	chr2:67538200-67539800	Enhancers	NHLF	lung
6	chr2:67538600-67539200	Enhancers	Colon Smooth Muscle	Colon
7	chr2:67538600-67539400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:67538600-67539400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:67538600-67539400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:67538600-67539400	Enhancers	Stomach Smooth Muscle	stomach
11	chr2:67538600-67539400	Enhancers	HMEC	breast
12	chr2:67538600-67539400	Enhancers	NHEK	skin
13	chr2:67538600-67539400	Enhancers	Osteobl	bone
14	chr2:67538600-67539600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:67538600-67539800	Enhancers	Hela-S3	cervix
16	chr2:67538600-67540600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr2:67538800-67539200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:67538800-67539200	Enhancers	Fetal Kidney	kidney
19	chr2:67538800-67539200	Enhancers	HSMM	muscle
20	chr2:67538800-67539400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:67538800-67539800	Enhancers	Brain Germinal Matrix	brain
22	chr2:67538800-67541600	Enhancers	Fetal Lung	lung
23	chr2:67538800-67544600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:67539000-67539200	Enhancers	A549	lung
25	chr2:67539000-67539400	Weak transcription	Pancreas	Pancrea
26	chr2:67539000-67551400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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