Variant report

Variant	rs17025926
Chromosome Location	chr2:40630790-40630791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10490043	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12996425	0.82[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13031545	0.85[CEU][hapmap];0.80[CHB][hapmap]
rs13031785	0.82[CEU][hapmap]
rs13031843	0.82[CEU][hapmap]
rs13031849	0.82[CEU][hapmap]
rs13035085	0.85[CHB][hapmap]
rs17025999	0.85[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap]
rs17026001	0.85[CEU][hapmap];0.80[CHB][hapmap]
rs17026005	0.85[CEU][hapmap]
rs17026009	0.85[CEU][hapmap]
rs17026011	0.85[CEU][hapmap];0.80[CHB][hapmap]
rs17026012	0.82[CEU][hapmap]
rs17026014	0.85[CEU][hapmap]
rs2041759	0.90[ASN][1000 genomes]
rs35920920	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35946417	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6730958	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873916	chr2:40607504-40649084	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1007027	chr2:40627475-40649916	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40622200-40635600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:40623000-40630800	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:40623000-40634800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:40623600-40635000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:40623600-40655000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:40624200-40633600	Weak transcription	Dnd41	blood
7	chr2:40625400-40631800	Weak transcription	Right Atrium	heart
8	chr2:40627400-40632800	Enhancers	HMEC	breast
9	chr2:40627400-40633000	Enhancers	NH-A	brain
10	chr2:40627600-40630800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:40627600-40631200	Enhancers	HSMM	muscle
12	chr2:40627600-40631600	Enhancers	NHEK	skin
13	chr2:40627600-40631800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:40627600-40633000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:40627600-40633000	Enhancers	NHLF	lung
16	chr2:40627800-40632000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:40627800-40632400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:40628000-40633000	Enhancers	Osteobl	bone
19	chr2:40628200-40631000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:40628200-40631400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr2:40628200-40631600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:40628200-40633000	Enhancers	NHDF-Ad	bronchial
23	chr2:40628200-40633600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:40628400-40631400	Enhancers	Fetal Heart	heart
25	chr2:40628400-40631600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:40628400-40631600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:40628400-40634000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:40628400-40634600	Weak transcription	Adipose Nuclei	Adipose
29	chr2:40628400-40636800	Weak transcription	Right Ventricle	heart
30	chr2:40628600-40631200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:40629000-40631400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:40629200-40631800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:40629400-40630800	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:40629400-40631200	Weak transcription	Left Ventricle	heart
35	chr2:40629800-40631800	Enhancers	HSMMtube	muscle
36	chr2:40629800-40633200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:40630000-40631200	Enhancers	Brain Anterior Caudate	brain
38	chr2:40630200-40630800	Enhancers	Placenta	Placenta
39	chr2:40630200-40631400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr2:40630400-40630800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:40630400-40630800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:40630400-40630800	Enhancers	Psoas Muscle	Psoas
43	chr2:40630400-40631400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:40630400-40631800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:40630400-40632200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:40630400-40632600	Enhancers	Fetal Brain Male	brain
47	chr2:40630400-40633000	Enhancers	Brain Germinal Matrix	brain
48	chr2:40630600-40630800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:40630600-40630800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr2:40630600-40630800	Enhancers	Hela-S3	cervix

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