Variant report

Variant	rs58414922
Chromosome Location	chr2:62969463-62969464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs56004216	0.85[AFR][1000 genomes]
rs56948083	0.90[AFR][1000 genomes]
rs57047203	1.00[AMR][1000 genomes]
rs58580924	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58893981	0.90[AFR][1000 genomes]
rs59164676	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60767232	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888909	1.00[AMR][1000 genomes]
rs72888913	1.00[AMR][1000 genomes]
rs72888914	1.00[AMR][1000 genomes]
rs72888921	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888923	0.86[AFR][1000 genomes]
rs72888930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72888931	0.81[AFR][1000 genomes]
rs72888933	0.86[AFR][1000 genomes]
rs72888949	1.00[AMR][1000 genomes]
rs72888957	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890520	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890525	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72890534	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73934295	1.00[AMR][1000 genomes]
rs73937321	0.81[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:63 , 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	chr2:62958200-62970600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:62958200-62971800	Weak transcription	Gastric	stomach
4	chr2:62958200-62975000	Weak transcription	Pancreas	Pancrea
5	chr2:62958200-62981400	Weak transcription	Fetal Stomach	stomach
6	chr2:62958200-62981600	Weak transcription	Esophagus	oesophagus
7	chr2:62958200-62982800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:62958200-63010200	Weak transcription	Primary B cells from cord blood	blood
9	chr2:62960000-62981200	Weak transcription	Fetal Intestine Small	intestine
10	chr2:62961200-62971800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:62961200-62971800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:62961200-62977200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:62961200-62981400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:62961200-63011600	Weak transcription	NHLF	lung
15	chr2:62962000-62981400	Weak transcription	Aorta	Aorta
16	chr2:62963600-62974600	Enhancers	A549	lung
17	chr2:62964000-62969800	Enhancers	Liver	Liver
18	chr2:62964400-62977000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:62964800-62969800	Enhancers	Colon Smooth Muscle	Colon
20	chr2:62964800-62975000	Weak transcription	Small Intestine	intestine
21	chr2:62964800-62977200	Weak transcription	Psoas Muscle	Psoas
22	chr2:62965000-62969800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:62965000-62970000	Weak transcription	GM12878-XiMat	blood
24	chr2:62965000-62971000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:62965000-62971800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:62965000-62981400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:62965200-62981400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:62965400-62969600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:62965600-62969600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:62965600-62970800	Enhancers	NHDF-Ad	bronchial
31	chr2:62966000-62971000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:62966000-62972200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:62966200-62969600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:62967000-62997000	Weak transcription	Dnd41	blood
35	chr2:62967600-62969800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr2:62967600-62970000	Enhancers	Osteobl	bone
37	chr2:62967800-62976400	Weak transcription	Brain Germinal Matrix	brain
38	chr2:62968000-62971600	Enhancers	HepG2	liver
39	chr2:62968000-62973400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr2:62968200-62969600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:62968400-62969600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr2:62968400-62972200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:62968400-62980800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:62968400-62995200	Weak transcription	Left Ventricle	heart
45	chr2:62968600-62970600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:62968600-62970800	Weak transcription	Ovary	ovary
47	chr2:62968600-62975000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr2:62968600-62976200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:62968800-62969600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr2:62969200-62969600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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