Variant report

Variant	rs60403482
Chromosome Location	chr8:62509195-62509196
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11984541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675597	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574196	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2350585	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882460	0.84[ASN][1000 genomes]
rs6471962	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66516703	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66795450	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7017995	0.84[ASN][1000 genomes]
rs7822250	0.86[ASN][1000 genomes]
rs7834148	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836217	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
2	chr8:62489200-62528800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:62493200-62512400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr8:62494200-62511600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:62494200-62511800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:62494200-62512400	Weak transcription	Brain Anterior Caudate	brain
7	chr8:62494200-62519400	Weak transcription	Esophagus	oesophagus
8	chr8:62494200-62520400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:62494200-62521400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:62495400-62529000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:62495600-62525800	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:62498400-62521200	Weak transcription	Ovary	ovary
13	chr8:62499200-62519400	Weak transcription	Liver	Liver
14	chr8:62503000-62509400	Enhancers	NHDF-Ad	bronchial
15	chr8:62503000-62521200	Weak transcription	Aorta	Aorta
16	chr8:62504800-62509400	Weak transcription	Small Intestine	intestine
17	chr8:62504800-62512600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:62504800-62516600	Weak transcription	NH-A	brain
19	chr8:62504800-62526800	Weak transcription	NHEK	skin
20	chr8:62504800-62536200	Weak transcription	HUVEC	blood vessel
21	chr8:62505400-62509400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:62506200-62512400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:62506200-62528800	Weak transcription	HepG2	liver
24	chr8:62506400-62509400	Genic enhancers	A549	lung
25	chr8:62506400-62526200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:62506600-62541400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:62506800-62511200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr8:62507600-62509200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr8:62508200-62509200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:62508200-62509200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:62508200-62509200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:62508200-62509200	Genic enhancers	Adipose Nuclei	Adipose
33	chr8:62508200-62509400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:62508400-62509200	Strong transcription	Fetal Intestine Small	intestine
35	chr8:62508400-62509200	Genic enhancers	Spleen	Spleen
36	chr8:62508400-62509400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:62508400-62510000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:62508400-62512400	Weak transcription	HSMM	muscle
39	chr8:62508400-62516600	Weak transcription	HSMMtube	muscle
40	chr8:62508400-62516600	Weak transcription	Osteobl	bone
41	chr8:62508600-62509200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
42	chr8:62508600-62509200	Strong transcription	Brain Cingulate Gyrus	brain
43	chr8:62508600-62509200	Genic enhancers	Gastric	stomach
44	chr8:62508600-62509200	Genic enhancers	Pancreas	Pancrea
45	chr8:62508600-62512400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:62508800-62510200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:62508800-62512200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:62508800-62517200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:62508800-62520800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:62508800-62549800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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