Variant report

Variant	rs1330856
Chromosome Location	chr1:94771955-94771956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10399782	1.00[EUR][1000 genomes]
rs10782981	1.00[EUR][1000 genomes]
rs10874845	1.00[EUR][1000 genomes]
rs1146516	1.00[EUR][1000 genomes]
rs11800866	1.00[EUR][1000 genomes]
rs11801203	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11801251	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11802178	1.00[EUR][1000 genomes]
rs11802887	1.00[EUR][1000 genomes]
rs11803374	1.00[EUR][1000 genomes]
rs11803749	1.00[EUR][1000 genomes]
rs11805161	1.00[EUR][1000 genomes]
rs11806223	1.00[EUR][1000 genomes]
rs11810728	1.00[AMR][1000 genomes]
rs12069536	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1318396	1.00[EUR][1000 genomes]
rs1330858	1.00[EUR][1000 genomes]
rs1330859	1.00[EUR][1000 genomes]
rs1330860	1.00[EUR][1000 genomes]
rs1337856	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1337857	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1361124	1.00[EUR][1000 genomes]
rs1411697	1.00[EUR][1000 genomes]
rs1411703	1.00[EUR][1000 genomes]
rs1571645	1.00[EUR][1000 genomes]
rs1577920	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1616972	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1617363	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1617719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687921	1.00[EUR][1000 genomes]
rs1687922	1.00[EUR][1000 genomes]
rs1687923	1.00[EUR][1000 genomes]
rs1687925	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687926	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687929	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687934	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687938	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687939	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687945	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687953	1.00[EUR][1000 genomes]
rs1687955	1.00[EUR][1000 genomes]
rs1687958	1.00[EUR][1000 genomes]
rs1687959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1687960	1.00[EUR][1000 genomes]
rs1687967	1.00[EUR][1000 genomes]
rs1687969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17111347	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1749540	1.00[EUR][1000 genomes]
rs1756247	1.00[EUR][1000 genomes]
rs1756256	1.00[EUR][1000 genomes]
rs1756258	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1756263	1.00[EUR][1000 genomes]
rs1756264	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765616	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765624	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765625	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765631	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765633	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765634	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765637	0.86[AFR][1000 genomes]
rs1765638	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765639	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1765642	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs1765653	1.00[EUR][1000 genomes]
rs2021993	1.00[EUR][1000 genomes]
rs2094824	1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2391471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2483792	1.00[EUR][1000 genomes]
rs2774921	1.00[EUR][1000 genomes]
rs28494821	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2893296	1.00[EUR][1000 genomes]
rs479627	1.00[EUR][1000 genomes]
rs484420	1.00[EUR][1000 genomes]
rs4847297	1.00[EUR][1000 genomes]
rs512648	1.00[EUR][1000 genomes]
rs513976	1.00[EUR][1000 genomes]
rs529642	1.00[EUR][1000 genomes]
rs59778098	1.00[EUR][1000 genomes]
rs598962	1.00[EUR][1000 genomes]
rs610088	1.00[EUR][1000 genomes]
rs630382	1.00[EUR][1000 genomes]
rs6673287	1.00[EUR][1000 genomes]
rs6684237	1.00[EUR][1000 genomes]
rs698945	1.00[EUR][1000 genomes]
rs7417304	1.00[EUR][1000 genomes]
rs7548077	1.00[EUR][1000 genomes]
rs860909	1.00[EUR][1000 genomes]
rs9432270	1.00[EUR][1000 genomes]
rs9432441	1.00[EUR][1000 genomes]
rs9432688	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94763400-94775800	Weak transcription	Psoas Muscle	Psoas
2	chr1:94764800-94772000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:94766000-94772600	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:94766000-94774600	Weak transcription	Fetal Lung	lung
5	chr1:94766600-94775600	Weak transcription	Small Intestine	intestine
6	chr1:94767200-94775400	Weak transcription	Liver	Liver
7	chr1:94767400-94773400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:94768200-94774800	Weak transcription	Spleen	Spleen
9	chr1:94768400-94774200	Weak transcription	Ovary	ovary
10	chr1:94768400-94775800	Weak transcription	Pancreas	Pancrea
11	chr1:94768600-94774200	Weak transcription	Right Atrium	heart
12	chr1:94768600-94774200	Weak transcription	Right Ventricle	heart
13	chr1:94769200-94772000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:94769200-94773400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr1:94769400-94772000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:94769400-94772000	Enhancers	HMEC	breast
17	chr1:94769400-94772000	Enhancers	NHEK	skin
18	chr1:94769600-94772000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:94769800-94772200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:94769800-94772200	Enhancers	NHDF-Ad	bronchial
21	chr1:94770000-94772000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:94770000-94772000	Enhancers	HSMM	muscle
23	chr1:94770000-94772000	Enhancers	Osteobl	bone
24	chr1:94770000-94774200	Weak transcription	Lung	lung
25	chr1:94770200-94772000	Enhancers	NH-A	brain
26	chr1:94770600-94772000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:94770600-94772000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:94770600-94772000	Enhancers	Aorta	Aorta
29	chr1:94770800-94772400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:94770800-94773400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:94771000-94773000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:94771000-94773600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:94771200-94772600	Weak transcription	HUVEC	blood vessel
34	chr1:94771400-94773800	Weak transcription	HepG2	liver
35	chr1:94771800-94772400	Enhancers	Adipose Nuclei	Adipose
36	chr1:94771800-94775600	Weak transcription	NHLF	lung
37	chr1:94771800-94775800	Weak transcription	Left Ventricle	heart

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