Variant report

Variant	rs56948083
Chromosome Location	chr2:62965351-62965352
allele	A/G
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:7)

rs_ID	r²[population]
rs58414922	0.90[AFR][1000 genomes]
rs58893981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888923	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888930	0.90[AFR][1000 genomes]
rs72888931	0.91[AFR][1000 genomes]
rs72888933	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934285	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62953600-63001200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:62953800-62969200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:62958200-62966000	Weak transcription	HUVEC	blood vessel
4	chr2:62958200-62967400	Weak transcription	Fetal Heart	heart
5	chr2:62958200-62968000	Weak transcription	Left Ventricle	heart
6	chr2:62958200-62969200	Weak transcription	HSMMtube	muscle
7	chr2:62958200-62969200	Weak transcription	NH-A	brain
8	chr2:62958200-62970600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:62958200-62971800	Weak transcription	Gastric	stomach
10	chr2:62958200-62975000	Weak transcription	Pancreas	Pancrea
11	chr2:62958200-62981400	Weak transcription	Fetal Stomach	stomach
12	chr2:62958200-62981600	Weak transcription	Esophagus	oesophagus
13	chr2:62958200-62982800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:62958200-63010200	Weak transcription	Primary B cells from cord blood	blood
15	chr2:62958600-62966000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:62958800-62969200	Weak transcription	NHEK	skin
17	chr2:62960000-62981200	Weak transcription	Fetal Intestine Small	intestine
18	chr2:62961200-62967600	Weak transcription	Osteobl	bone
19	chr2:62961200-62968200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:62961200-62971800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:62961200-62971800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:62961200-62977200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:62961200-62981400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:62961200-63011600	Weak transcription	NHLF	lung
25	chr2:62961400-62965600	Weak transcription	NHDF-Ad	bronchial
26	chr2:62961400-62966000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:62961600-62966000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:62962000-62981400	Weak transcription	Aorta	Aorta
29	chr2:62962200-62968200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:62962400-62967600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:62962800-62965600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:62963600-62974600	Enhancers	A549	lung
33	chr2:62963800-62965600	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr2:62963800-62967000	Enhancers	Dnd41	blood
35	chr2:62964000-62966400	Enhancers	Ovary	ovary
36	chr2:62964000-62967000	Enhancers	K562	blood
37	chr2:62964000-62969800	Enhancers	Liver	Liver
38	chr2:62964400-62967000	Enhancers	Rectal Smooth Muscle	rectum
39	chr2:62964400-62977000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:62964600-62965400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr2:62964600-62965400	Genic enhancers	HepG2	liver
42	chr2:62964600-62965600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:62964600-62969200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:62964800-62967800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:62964800-62968400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:62964800-62969200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:62964800-62969800	Enhancers	Colon Smooth Muscle	Colon
48	chr2:62964800-62975000	Weak transcription	Small Intestine	intestine
49	chr2:62964800-62977200	Weak transcription	Psoas Muscle	Psoas
50	chr2:62965000-62966000	Weak transcription	Adipose Nuclei	Adipose

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