Variant report

Variant	rs12475443
Chromosome Location	chr2:32071056-32071057
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10439444	0.86[YRI][hapmap]
rs1272585	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs160801	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs160803	0.85[EUR][1000 genomes]
rs223621	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs223665	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs2366297	0.92[CEU][hapmap];0.97[YRI][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32054400-32080000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:32054600-32090400	Weak transcription	HSMM	muscle
3	chr2:32057200-32117200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:32061600-32172800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:32063000-32092000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:32064600-32142400	Weak transcription	NHDF-Ad	bronchial
7	chr2:32065000-32084800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:32065400-32088400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:32065400-32123000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:32066200-32072000	Weak transcription	Fetal Intestine Small	intestine
11	chr2:32066200-32081200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:32066400-32078400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:32066400-32079200	Weak transcription	Primary B cells from cord blood	blood
14	chr2:32066600-32072400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:32066600-32077600	Weak transcription	HSMMtube	muscle
16	chr2:32066600-32100600	Weak transcription	Primary T cells from cord blood	blood
17	chr2:32066800-32074600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:32066800-32101800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:32066800-32103400	Weak transcription	Fetal Thymus	thymus
20	chr2:32067000-32106200	Weak transcription	Left Ventricle	heart
21	chr2:32067200-32106000	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:32067600-32089600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:32067800-32092000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:32067800-32103400	Weak transcription	HMEC	breast
25	chr2:32068000-32088600	Weak transcription	NH-A	brain
26	chr2:32068000-32121400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:32068200-32079600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:32068400-32088600	Weak transcription	Liver	Liver
29	chr2:32068400-32089200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:32068400-32106800	Weak transcription	Ovary	ovary
31	chr2:32068400-32115400	Weak transcription	NHEK	skin
32	chr2:32068400-32121400	Weak transcription	Fetal Brain Female	brain
33	chr2:32068600-32079000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr2:32068600-32088800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:32068600-32089600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:32068600-32100200	Weak transcription	A549	lung
37	chr2:32068600-32101800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:32068800-32101000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:32068800-32106800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:32069000-32116600	Weak transcription	Osteobl	bone
41	chr2:32069800-32073000	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:32070000-32073800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:32070600-32073000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:32070600-32086800	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr2:32071000-32115400	Weak transcription	Placenta	Placenta

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