Variant report

Variant	rs62149316
Chromosome Location	chr2:100633529-100633530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10185707	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10198062	0.99[EUR][1000 genomes]
rs10211423	0.99[EUR][1000 genomes]
rs13385193	0.82[EUR][1000 genomes]
rs13392222	0.89[EUR][1000 genomes]
rs17023362	0.82[EUR][1000 genomes]
rs17023378	0.82[EUR][1000 genomes]
rs17023391	0.83[EUR][1000 genomes]
rs17023393	0.83[EUR][1000 genomes]
rs17023453	0.90[EUR][1000 genomes]
rs17023459	0.90[EUR][1000 genomes]
rs17352514	0.91[EUR][1000 genomes]
rs17352745	0.93[EUR][1000 genomes]
rs17352801	0.93[EUR][1000 genomes]
rs17352808	0.93[EUR][1000 genomes]
rs17436983	0.89[EUR][1000 genomes]
rs17437101	0.93[EUR][1000 genomes]
rs17437248	0.89[EUR][1000 genomes]
rs17437282	0.93[EUR][1000 genomes]
rs17437338	0.93[EUR][1000 genomes]
rs2001722	0.80[EUR][1000 genomes]
rs2309775	0.82[EUR][1000 genomes]
rs2309776	0.85[EUR][1000 genomes]
rs4485586	0.93[EUR][1000 genomes]
rs55649403	0.84[EUR][1000 genomes]
rs55681051	0.84[EUR][1000 genomes]
rs62149303	0.88[EUR][1000 genomes]
rs62149304	0.91[EUR][1000 genomes]
rs62149305	0.93[EUR][1000 genomes]
rs62149307	0.93[EUR][1000 genomes]
rs62149310	0.93[EUR][1000 genomes]
rs62149311	0.92[EUR][1000 genomes]
rs62149314	0.93[EUR][1000 genomes]
rs62149319	0.90[EUR][1000 genomes]
rs62149320	0.93[EUR][1000 genomes]
rs62149321	0.93[EUR][1000 genomes]
rs62149341	0.93[EUR][1000 genomes]
rs62149343	0.88[EUR][1000 genomes]
rs62149348	0.83[EUR][1000 genomes]
rs6719214	0.91[EUR][1000 genomes]
rs6736239	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6750214	0.91[EUR][1000 genomes]
rs72819165	0.84[EUR][1000 genomes]
rs72819167	0.93[EUR][1000 genomes]
rs9308832	0.83[EUR][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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv3392078	chr2:100630420-100635418	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3423347	chr2:100631320-100634918	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100612000-100634200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:100615600-100638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:100620600-100635200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:100623800-100635200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:100624000-100634200	Weak transcription	Adipose Nuclei	Adipose
6	chr2:100624800-100657800	Weak transcription	Brain Germinal Matrix	brain
7	chr2:100625200-100634600	Weak transcription	Fetal Thymus	thymus
8	chr2:100626600-100634400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:100626600-100637800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:100626800-100637600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:100627000-100637800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:100627200-100635800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:100627800-100637800	Strong transcription	Primary B cells from cord blood	blood
14	chr2:100628200-100635200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:100628400-100634600	Weak transcription	Colon Smooth Muscle	Colon
16	chr2:100628600-100634200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:100629200-100634200	Weak transcription	Right Atrium	heart
18	chr2:100629400-100649600	Weak transcription	Fetal Brain Female	brain
19	chr2:100631000-100634800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:100631200-100634000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:100631200-100634000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:100631200-100634200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:100631400-100633600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:100631600-100633800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:100631800-100633800	Weak transcription	Osteobl	bone
26	chr2:100631800-100637400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:100632000-100634000	Weak transcription	NH-A	brain
28	chr2:100632200-100633600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:100632200-100634000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:100632400-100633600	ZNF genes & repeats	Fetal Kidney	kidney
31	chr2:100632400-100633600	ZNF genes & repeats	Lung	lung
32	chr2:100632400-100633600	Strong transcription	Ovary	ovary
33	chr2:100632400-100633800	Strong transcription	Dnd41	blood
34	chr2:100632600-100633600	ZNF genes & repeats	Thymus	Thymus
35	chr2:100632800-100633600	Strong transcription	Fetal Lung	lung
36	chr2:100633000-100633600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:100633000-100633600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
38	chr2:100633000-100634400	Strong transcription	Primary T cells from cord blood	blood
39	chr2:100633000-100635000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:100633200-100634800	Weak transcription	Fetal Brain Male	brain
41	chr2:100633400-100634000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:100633400-100634200	Weak transcription	NHLF	lung
43	chr2:100633400-100635800	Enhancers	NHDF-Ad	bronchial
44	chr2:100633400-100645800	Weak transcription	Gastric	stomach

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