Variant report

Variant	rs12464239
Chromosome Location	chr2:212896904-212896905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12476077	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13020474	1.00[AFR][1000 genomes]
rs16847416	1.00[AFR][1000 genomes]
rs2139938	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2371441	1.00[AFR][1000 genomes]
rs62183998	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584343	chr2:212830200-212906355	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1012269	chr2:212837487-212915640	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525127	chr2:212839046-212916758	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1011572	chr2:212840066-213152279	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv875798	chr2:212852669-212961992	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv875801	chr2:212856539-212929014	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv875802	chr2:212867291-213004603	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv875803	chr2:212874828-212969560	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1014136	chr2:212883977-212915640	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv875804	chr2:212891401-212997024	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv875805	chr2:212891401-213164837	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212893200-212902000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:212894800-212899800	Weak transcription	Fetal Heart	heart
3	chr2:212895000-212898600	Enhancers	Osteobl	bone
4	chr2:212895000-212898800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:212895600-212897200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:212895600-212898200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:212895600-212898400	Enhancers	NH-A	brain
8	chr2:212896200-212897200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:212896200-212897200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:212896200-212897200	Enhancers	NHDF-Ad	bronchial
11	chr2:212896200-212897200	Enhancers	NHLF	lung
12	chr2:212896200-212897600	Enhancers	Brain Anterior Caudate	brain
13	chr2:212896200-212897600	Enhancers	HSMMtube	muscle
14	chr2:212896200-212898000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:212896200-212898000	Enhancers	HSMM	muscle
16	chr2:212896400-212897600	Enhancers	HUVEC	blood vessel
17	chr2:212896400-212897800	Enhancers	Hela-S3	cervix
18	chr2:212896600-212897200	Enhancers	HMEC	breast
19	chr2:212896800-212897000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:212896800-212897200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:212896800-212897400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:212896800-212899800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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