Variant report

Variant	rs62192253
Chromosome Location	chr2:231281942-231281943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17273810	1.00[ASN][1000 genomes]
rs55798834	1.00[ASN][1000 genomes]
rs62193380	1.00[ASN][1000 genomes]
rs62193412	1.00[ASN][1000 genomes]
rs62193413	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73000209	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584671	chr2:231273229-231284556	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231280000-231283600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr2:231280400-231282000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:231280400-231282200	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr2:231280400-231282200	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr2:231280400-231283400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr2:231280400-231283600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr2:231280400-231283800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:231280600-231282000	Active TSS	A549	lung
9	chr2:231280600-231282200	Active TSS	Primary T cells from cord blood	blood
10	chr2:231280600-231282200	Active TSS	HSMMtube	muscle
11	chr2:231280600-231282800	Active TSS	Small Intestine	intestine
12	chr2:231280600-231283400	Active TSS	Brain Hippocampus Middle	brain
13	chr2:231280600-231283400	Active TSS	Ovary	ovary
14	chr2:231280600-231283400	Active TSS	Right Ventricle	heart
15	chr2:231280600-231283600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:231280600-231283800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:231280600-231283800	Active TSS	K562	blood
18	chr2:231280600-231284000	Active TSS	Right Atrium	heart
19	chr2:231280800-231282000	Active TSS	Fetal Intestine Small	intestine
20	chr2:231280800-231282000	Active TSS	Placenta Amnion	Placenta Amnion
21	chr2:231280800-231282000	Active TSS	Rectal Smooth Muscle	rectum
22	chr2:231280800-231282000	Active TSS	Monocytes-CD14+_RO01746	blood
23	chr2:231280800-231282000	Active TSS	Osteobl	bone
24	chr2:231280800-231282200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:231280800-231282200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:231280800-231282200	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr2:231280800-231282200	Active TSS	Primary monocytes fromperipheralblood	blood
28	chr2:231280800-231282200	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr2:231280800-231282200	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr2:231280800-231282200	Active TSS	Fetal Intestine Large	intestine
31	chr2:231280800-231282200	Active TSS	GM12878-XiMat	blood
32	chr2:231280800-231282400	Active TSS	HSMM	muscle
33	chr2:231280800-231282600	Active TSS	Primary B cells from peripheral blood	blood
34	chr2:231280800-231282600	Active TSS	Placenta	Placenta
35	chr2:231280800-231282600	Active TSS	NHLF	lung
36	chr2:231280800-231282800	Active TSS	Fetal Thymus	thymus
37	chr2:231280800-231282800	Active TSS	Left Ventricle	heart
38	chr2:231280800-231283000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:231280800-231283000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:231280800-231283000	Active TSS	Primary T cells fromperipheralblood	blood
41	chr2:231280800-231283000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:231280800-231283000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
43	chr2:231280800-231283000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:231280800-231283000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr2:231280800-231283000	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr2:231280800-231283000	Active TSS	Thymus	Thymus
47	chr2:231280800-231283000	Active TSS	NHEK	skin
48	chr2:231280800-231283200	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr2:231280800-231283200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:231280800-231283200	Active TSS	Primary T killer memory cells from peripheral blood	blood

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