Variant report

Variant	rs11985368
Chromosome Location	chr8:131688342-131688343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10088420	0.92[EUR][1000 genomes]
rs10095393	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10095479	0.92[EUR][1000 genomes]
rs10095628	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10095820	0.92[EUR][1000 genomes]
rs10096321	0.91[EUR][1000 genomes]
rs10098463	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10107223	0.92[EUR][1000 genomes]
rs10108730	0.84[EUR][1000 genomes]
rs10113164	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11993977	0.84[EUR][1000 genomes]
rs11995949	0.94[ASN][1000 genomes]
rs11995981	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1509847	0.93[EUR][1000 genomes]
rs16893283	0.82[EUR][1000 genomes]
rs16893288	0.82[EUR][1000 genomes]
rs16904337	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16904338	0.94[ASN][1000 genomes]
rs16904339	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs1912271	0.92[EUR][1000 genomes]
rs1912272	0.92[EUR][1000 genomes]
rs1961665	0.92[EUR][1000 genomes]
rs28379502	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs28428945	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs28430960	0.97[EUR][1000 genomes]
rs28870411	0.82[EUR][1000 genomes]
rs4294201	0.93[EUR][1000 genomes]
rs4472534	0.97[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4483174	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs4560808	0.97[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs59406705	0.82[EUR][1000 genomes]
rs7002882	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7004166	0.96[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs715679	0.92[EUR][1000 genomes]
rs72728275	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs73344752	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822131	0.84[EUR][1000 genomes]
rs7831277	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7832079	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs7844774	0.84[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs952132	0.84[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs956481	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915864	chr8:131509799-131754822	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2752684	chr8:131641096-131710094	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131672400-131689600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:131683400-131688600	Enhancers	NHDF-Ad	bronchial
3	chr8:131684000-131688400	Enhancers	HUVEC	blood vessel
4	chr8:131684400-131688400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:131685600-131688400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:131686200-131689600	Weak transcription	Lung	lung
7	chr8:131686200-131694800	Weak transcription	Esophagus	oesophagus
8	chr8:131686800-131688600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:131687000-131688400	Enhancers	NHLF	lung
10	chr8:131687600-131688400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:131687600-131688400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:131687600-131688400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:131687600-131688400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:131687600-131688400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:131687600-131688400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:131687600-131688400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:131687600-131688400	Enhancers	Rectal Smooth Muscle	rectum
18	chr8:131687600-131688400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr8:131687600-131688400	Enhancers	Stomach Smooth Muscle	stomach
20	chr8:131687600-131688400	Enhancers	A549	lung
21	chr8:131687600-131688400	Enhancers	HSMM	muscle
22	chr8:131687600-131688400	Enhancers	HSMMtube	muscle
23	chr8:131687600-131688400	Enhancers	NH-A	brain
24	chr8:131687600-131688400	Enhancers	NHEK	skin
25	chr8:131687600-131688400	Enhancers	Osteobl	bone
26	chr8:131687800-131688400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:131688000-131688400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:131688000-131688400	Enhancers	Primary B cells from cord blood	blood
29	chr8:131688000-131688400	Enhancers	Primary B cells from peripheral blood	blood
30	chr8:131688000-131688400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr8:131688000-131688400	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:131688000-131688400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr8:131688000-131688400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:131688000-131688400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr8:131688000-131688400	Enhancers	Hela-S3	cervix
36	chr8:131688000-131691400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr8:131688200-131688600	Weak transcription	Ovary	ovary
38	chr8:131688200-131692400	Weak transcription	Brain Germinal Matrix	brain
39	chr8:131688200-131694200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:131688200-131694200	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:131688200-131694800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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