Variant report

Variant	rs13386122
Chromosome Location	chr2:235217329-235217330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1519189	1.00[EUR][1000 genomes]
rs58746434	1.00[EUR][1000 genomes]
rs59432605	1.00[EUR][1000 genomes]
rs59794500	1.00[EUR][1000 genomes]
rs6720207	1.00[EUR][1000 genomes]
rs878732	1.00[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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv584713	chr2:235092011-235236611	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv834572	chr2:235146304-235333842	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235213600-235217400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:235215400-235218000	Enhancers	NHEK	skin
3	chr2:235216000-235217800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr2:235216000-235218000	Enhancers	NH-A	brain
5	chr2:235216000-235218400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:235216000-235218600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:235216000-235218800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:235216000-235218800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:235216000-235219200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:235216200-235218000	Flanking Active TSS	A549	lung
11	chr2:235216200-235218600	Enhancers	Primary B cells from cord blood	blood
12	chr2:235216200-235218800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:235216200-235219200	Enhancers	Primary T cells from cord blood	blood
14	chr2:235216400-235218200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr2:235216400-235218400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:235216400-235218600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr2:235216400-235218600	Enhancers	Thymus	Thymus
18	chr2:235216400-235218800	Enhancers	Primary B cells from peripheral blood	blood
19	chr2:235216400-235218800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:235216400-235219000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:235216400-235219200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr2:235216400-235219200	Enhancers	Fetal Thymus	thymus
23	chr2:235216600-235217400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:235216600-235217400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:235216600-235217400	Enhancers	NHDF-Ad	bronchial
26	chr2:235216600-235218000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:235216600-235218000	Enhancers	Primary hematopoietic stem cells	blood
28	chr2:235216600-235218400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:235216600-235218400	Enhancers	GM12878-XiMat	blood
30	chr2:235216600-235218600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr2:235216600-235219200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:235216800-235218000	Enhancers	Hela-S3	cervix
33	chr2:235216800-235218200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:235216800-235222200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:235217000-235217400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr2:235217000-235217400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:235217000-235217400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr2:235217000-235218000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:235217000-235218000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:235217200-235217400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:235217200-235217400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:235217200-235217400	Enhancers	Placenta	Placenta
43	chr2:235217200-235217400	Enhancers	Lung	lung
44	chr2:235217200-235217400	Flanking Active TSS	Osteobl	bone
45	chr2:235217200-235217800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:235217200-235218000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr2:235217200-235218200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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