Variant report

Variant	rs12993495
Chromosome Location	chr2:145768971-145768972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10204459	0.81[AMR][1000 genomes]
rs12996204	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1347828	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1528412	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1528413	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16855349	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1881411	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898731	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2243647	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2243648	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2246114	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2246142	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2246245	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2249681	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2249798	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2249819	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2250164	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2250518	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2250546	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2579024	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs718229	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7589308	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr2:145765200-145770200	Weak transcription	Hela-S3	cervix
2	chr2:145765600-145769200	Weak transcription	Right Atrium	heart
3	chr2:145765600-145769400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:145765600-145769800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:145765600-145770000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:145765600-145770400	Weak transcription	Aorta	Aorta
7	chr2:145765800-145769200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:145765800-145769800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:145765800-145769800	Weak transcription	Fetal Lung	lung
10	chr2:145765800-145769800	Weak transcription	HSMMtube	muscle
11	chr2:145766000-145769600	Weak transcription	HSMM	muscle
12	chr2:145766000-145769800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:145766000-145769800	Weak transcription	NH-A	brain
14	chr2:145766000-145769800	Weak transcription	Osteobl	bone
15	chr2:145766000-145770000	Weak transcription	HMEC	breast
16	chr2:145766200-145769000	Weak transcription	HUVEC	blood vessel
17	chr2:145766200-145769400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:145766200-145770000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:145766200-145770000	Weak transcription	NHDF-Ad	bronchial
20	chr2:145768000-145772000	Enhancers	Fetal Heart	heart
21	chr2:145768400-145771600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:145768800-145769200	Enhancers	A549	lung
23	chr2:145768800-145770200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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