Variant report

Variant	rs12693275
Chromosome Location	chr2:182258150-182258151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12690514	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12690515	0.83[AFR][1000 genomes]
rs13339780	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6433915	0.88[AFR][1000 genomes]
rs7602460	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602799	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182238000-182258200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:182241600-182258200	Weak transcription	Fetal Thymus	thymus
3	chr2:182255800-182258200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:182257200-182258200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:182257200-182258200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr2:182257200-182258200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr2:182257200-182258200	Weak transcription	Small Intestine	intestine
8	chr2:182257200-182258200	Enhancers	Dnd41	blood
9	chr2:182257200-182258200	Weak transcription	NHDF-Ad	bronchial
10	chr2:182257200-182258200	Weak transcription	NHEK	skin
11	chr2:182257200-182262200	Enhancers	Primary hematopoietic stem cells	blood
12	chr2:182257400-182258200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:182257400-182258200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:182258000-182258200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:182258000-182258200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr2:182258000-182258200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:182258000-182258200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:182258000-182258200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:182258000-182258200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:182258000-182258200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:182258000-182258200	Enhancers	HMEC	breast
22	chr2:182258000-182258200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:182258000-182258400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:182258000-182258600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:182258000-182258600	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr2:182258000-182260800	Enhancers	Primary B cells from peripheral blood	blood
27	chr2:182258000-182261600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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