Variant report

Variant	rs73065023
Chromosome Location	chr2:206271301-206271302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:206270948..206273715-chr2:206278631..206280999,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1921811	1.00[EUR][1000 genomes]
rs58248090	1.00[EUR][1000 genomes]
rs6720132	1.00[EUR][1000 genomes]
rs73062529	1.00[EUR][1000 genomes]
rs73068915	1.00[EUR][1000 genomes]
rs7568981	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv584244	chr2:206247450-206378392	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206265400-206273200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:206265600-206276400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:206268600-206286600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:206269400-206271400	Enhancers	HUVEC	blood vessel
5	chr2:206269800-206272000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:206269800-206272600	Enhancers	NHDF-Ad	bronchial
7	chr2:206269800-206274600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:206270600-206271600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:206270600-206271800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:206270600-206271800	Weak transcription	Osteobl	bone
11	chr2:206270600-206274400	Enhancers	NHLF	lung
12	chr2:206270600-206276000	Weak transcription	Small Intestine	intestine
13	chr2:206270600-206308000	Weak transcription	HSMMtube	muscle
14	chr2:206270800-206273800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:206270800-206276000	Weak transcription	Ovary	ovary
16	chr2:206271000-206272000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:206271000-206272400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:206271000-206272400	Weak transcription	NH-A	brain
19	chr2:206271000-206272800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:206271000-206273600	Weak transcription	NHEK	skin
21	chr2:206271200-206272600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:206271200-206272800	Weak transcription	HSMM	muscle
23	chr2:206271200-206274000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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