Variant report

Variant	rs11585462
Chromosome Location	chr1:95537792-95537793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:95537299..95540042-chr1:95699496..95701047,2	K562	blood:
2	chr1:95537109..95538703-chr1:95581704..95583330,2	MCF-7	breast:
3	chr1:95536810..95539827-chr1:95698878..95701315,3	K562	blood:

Variant related genes	Relation type
ENSG00000226026	Chromatin interaction
ENSG00000152078	Chromatin interaction
ENSG00000122481	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1023330	0.83[CHB][hapmap]
rs10493880	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10735790	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10782996	0.88[ASN][1000 genomes]
rs10874902	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11165299	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11591183	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12563592	0.83[EUR][1000 genomes]
rs12569038	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12569207	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12741128	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12748237	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12751774	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2298162	0.83[JPT][hapmap]
rs2391388	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2391389	0.87[ASN][1000 genomes]
rs2766010	0.96[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2766011	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2797616	0.81[AMR][1000 genomes]
rs2797622	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2893274	0.81[ASN][1000 genomes]
rs34280926	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35678413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35888232	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4259714	0.87[ASN][1000 genomes]
rs4309032	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4339907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4390223	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4630159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847220	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4949965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4950056	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4950057	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4950058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4950077	0.92[CHB][hapmap]
rs61774262	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6675668	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6683112	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6687450	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6698046	0.96[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7533303	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs7537374	0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7539139	0.87[ASN][1000 genomes]
rs7547662	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs9437665	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9437672	1.00[ASN][1000 genomes]
rs9437689	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9437810	1.00[ASN][1000 genomes]
rs9437812	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9437813	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9661031	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95506000-95537800	Weak transcription	Pancreas	Pancrea
2	chr1:95517400-95537800	Weak transcription	Esophagus	oesophagus
3	chr1:95523400-95537800	Weak transcription	Left Ventricle	heart
4	chr1:95523800-95537800	Weak transcription	Fetal Thymus	thymus
5	chr1:95529200-95537800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:95534800-95538200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:95537000-95537800	Flanking Active TSS	Liver	Liver
8	chr1:95537200-95537800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:95537200-95537800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:95537200-95537800	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:95537200-95537800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr1:95537200-95537800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:95537200-95537800	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr1:95537200-95537800	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr1:95537200-95537800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:95537200-95537800	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr1:95537200-95537800	Flanking Active TSS	GM12878-XiMat	blood
18	chr1:95537200-95537800	Flanking Active TSS	NHDF-Ad	bronchial
19	chr1:95537200-95537800	Flanking Active TSS	Osteobl	bone
20	chr1:95537200-95538000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:95537200-95538000	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr1:95537200-95538000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr1:95537200-95538000	Flanking Active TSS	Dnd41	blood
24	chr1:95537200-95539000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:95537200-95539200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:95537200-95539200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:95537200-95539200	Active TSS	Colon Smooth Muscle	Colon
28	chr1:95537200-95539200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr1:95537400-95537800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:95537400-95537800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr1:95537400-95537800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr1:95537400-95537800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr1:95537400-95537800	Enhancers	Primary T cells fromperipheralblood	blood
34	chr1:95537400-95537800	Enhancers	Primary hematopoietic stem cells	blood
35	chr1:95537400-95537800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:95537400-95537800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:95537400-95537800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr1:95537400-95537800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:95537400-95537800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr1:95537400-95537800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr1:95537400-95537800	Flanking Active TSS	Fetal Brain Female	brain
42	chr1:95537400-95537800	Flanking Active TSS	Fetal Kidney	kidney
43	chr1:95537400-95537800	Flanking Active TSS	Fetal Lung	lung
44	chr1:95537400-95537800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr1:95537400-95537800	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr1:95537400-95537800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr1:95537400-95537800	Flanking Active TSS	A549	lung
48	chr1:95537400-95537800	Flanking Active TSS	HepG2	liver
49	chr1:95537400-95537800	Flanking Active TSS	NHEK	skin
50	chr1:95537400-95537800	Flanking Active TSS	NHLF	lung

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