Variant report

Variant	rs6467113
Chromosome Location	chr7:79964962-79964963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10215570	0.81[ASN][1000 genomes]
rs10224403	0.86[ASN][1000 genomes]
rs10224409	0.81[ASN][1000 genomes]
rs10227851	0.97[ASN][1000 genomes]
rs10228269	0.84[ASN][1000 genomes]
rs10228938	0.86[ASN][1000 genomes]
rs10265717	0.87[JPT][hapmap]
rs10267427	0.87[JPT][hapmap]
rs10269645	0.81[ASN][1000 genomes]
rs10282378	0.97[ASN][1000 genomes]
rs10480799	0.87[JPT][hapmap]
rs13230620	0.89[CHB][hapmap];0.93[JPT][hapmap];0.82[ASN][1000 genomes]
rs13238342	0.92[EUR][1000 genomes]
rs1511682	0.91[EUR][1000 genomes]
rs1818432	0.90[EUR][1000 genomes]
rs1878214	0.87[JPT][hapmap]
rs1878314	0.80[ASN][1000 genomes]
rs2040896	0.80[ASN][1000 genomes]
rs28875814	0.81[ASN][1000 genomes]
rs304773	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs304774	0.85[CHD][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs304775	0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs35439899	0.91[ASN][1000 genomes]
rs37931	0.90[ASN][1000 genomes]
rs37938	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3847097	0.94[ASN][1000 genomes]
rs3914181	0.81[ASN][1000 genomes]
rs6966532	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs757706	0.97[ASN][1000 genomes]
rs7788512	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription 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 miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv528393	chr7:79964962-79969058	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79954200-79975400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:79962800-79965600	Enhancers	Fetal Intestine Large	intestine
3	chr7:79963000-79966200	Enhancers	Fetal Intestine Small	intestine
4	chr7:79963200-79965000	Enhancers	Duodenum Mucosa	Duodenum
5	chr7:79963200-79965000	Enhancers	Small Intestine	intestine
6	chr7:79963400-79965200	Enhancers	Fetal Kidney	kidney
7	chr7:79963400-79965400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr7:79963400-79965600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:79963400-79966200	Enhancers	Primary hematopoietic stem cells	blood
10	chr7:79963600-79965400	Enhancers	Fetal Muscle Leg	muscle
11	chr7:79963600-79965400	Enhancers	Stomach Mucosa	stomach
12	chr7:79963800-79965400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:79963800-79965400	Enhancers	Adipose Nuclei	Adipose
14	chr7:79964000-79965200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:79964000-79965400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:79964200-79965200	Enhancers	Fetal Stomach	stomach
17	chr7:79964200-79965400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:79964200-79965400	Enhancers	Liver	Liver
19	chr7:79964200-79965400	Enhancers	HUVEC	blood vessel
20	chr7:79964200-79965600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:79964400-79965000	Enhancers	Brain Substantia Nigra	brain
22	chr7:79964400-79965200	Enhancers	Colon Smooth Muscle	Colon
23	chr7:79964400-79965200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:79964400-79965400	Enhancers	Fetal Lung	lung
25	chr7:79964800-79965000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:79964800-79965000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:79964800-79965000	Active TSS	Brain Hippocampus Middle	brain
28	chr7:79964800-79965000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr7:79964800-79965000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr7:79964800-79965000	Active TSS	HSMMtube	muscle
31	chr7:79964800-79965200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:79964800-79965200	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr7:79964800-79965200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr7:79964800-79965400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:79964800-79965400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:79964800-79965400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:79964800-79965400	Enhancers	Brain Anterior Caudate	brain
38	chr7:79964800-79965400	Enhancers	Gastric	stomach
39	chr7:79964800-79965400	Enhancers	Left Ventricle	heart
40	chr7:79964800-79965400	Enhancers	Ovary	ovary
41	chr7:79964800-79965400	Enhancers	Pancreas	Pancrea
42	chr7:79964800-79965400	Enhancers	Right Atrium	heart
43	chr7:79964800-79965400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr7:79964800-79965400	Flanking Active TSS	HSMM	muscle
45	chr7:79964800-79965600	Enhancers	Aorta	Aorta
46	chr7:79964800-79965600	Enhancers	Brain Angular Gyrus	brain

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