Variant report

Variant	rs11580391
Chromosome Location	chr1:94769368-94769369
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1048854	1.00[CHD][hapmap];0.80[GIH][hapmap];0.82[MEX][hapmap]
rs10493872	0.91[GIH][hapmap]
rs1542728	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17396055	0.85[EUR][1000 genomes]
rs17400584	0.80[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs17410643	1.00[LWK][hapmap]
rs1929132	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2130896	0.86[EUR][1000 genomes]
rs4847288	1.00[CHD][hapmap];0.81[GIH][hapmap]
rs55937938	0.88[EUR][1000 genomes]
rs56184400	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61782652	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61784299	0.87[AMR][1000 genomes];0.88[EUR][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	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv946084	chr1:94766692-94770101	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94760600-94770000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:94762000-94769400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:94763400-94775800	Weak transcription	Psoas Muscle	Psoas
4	chr1:94764800-94771200	Enhancers	HUVEC	blood vessel
5	chr1:94764800-94772000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:94765800-94770800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:94766000-94770000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:94766000-94770600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:94766000-94772600	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:94766000-94774600	Weak transcription	Fetal Lung	lung
11	chr1:94766600-94775600	Weak transcription	Small Intestine	intestine
12	chr1:94767000-94770000	Weak transcription	NHLF	lung
13	chr1:94767200-94769400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:94767200-94769400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr1:94767200-94770000	Weak transcription	HepG2	liver
16	chr1:94767200-94770000	Weak transcription	Osteobl	bone
17	chr1:94767200-94770200	Weak transcription	NH-A	brain
18	chr1:94767200-94775400	Weak transcription	Liver	Liver
19	chr1:94767400-94769400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:94767400-94769400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:94767400-94769400	Weak transcription	NHEK	skin
22	chr1:94767400-94769600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:94767400-94773400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:94767800-94769400	Weak transcription	HMEC	breast
25	chr1:94767800-94769800	Enhancers	Primary hematopoietic stem cells	blood
26	chr1:94767800-94769800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:94768000-94770000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr1:94768200-94769800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:94768200-94771000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:94768200-94774800	Weak transcription	Spleen	Spleen
31	chr1:94768400-94769800	Weak transcription	NHDF-Ad	bronchial
32	chr1:94768400-94770400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:94768400-94770600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:94768400-94771000	Weak transcription	Gastric	stomach
35	chr1:94768400-94774200	Weak transcription	Ovary	ovary
36	chr1:94768400-94775800	Weak transcription	Pancreas	Pancrea
37	chr1:94768600-94769600	Weak transcription	Lung	lung
38	chr1:94768600-94770800	Weak transcription	Left Ventricle	heart
39	chr1:94768600-94771800	Weak transcription	Adipose Nuclei	Adipose
40	chr1:94768600-94774200	Weak transcription	Right Atrium	heart
41	chr1:94768600-94774200	Weak transcription	Right Ventricle	heart
42	chr1:94769200-94770000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:94769200-94772000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:94769200-94773400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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