Variant report

Variant	rs2714467
Chromosome Location	chr7:79784126-79784127
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11766554	1.00[JPT][hapmap]
rs11980616	1.00[JPT][hapmap]
rs17153558	0.83[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17153599	0.88[CEU][hapmap]
rs2714449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714452	0.94[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2714454	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2714457	0.85[YRI][hapmap]
rs59619406	0.92[ASN][1000 genomes]
rs6980462	1.00[JPT][hapmap]

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	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79775600-79787800	Weak transcription	Esophagus	oesophagus
2	chr7:79775600-79787800	Enhancers	Fetal Lung	lung
3	chr7:79776200-79796200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:79776600-79786000	Weak transcription	Fetal Brain Female	brain
5	chr7:79777400-79785200	Enhancers	NHDF-Ad	bronchial
6	chr7:79777600-79791000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:79779200-79784600	Enhancers	NHLF	lung
8	chr7:79780400-79791400	Weak transcription	Psoas Muscle	Psoas
9	chr7:79780600-79788200	Weak transcription	Ovary	ovary
10	chr7:79781000-79786600	Enhancers	Hela-S3	cervix
11	chr7:79781000-79788200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:79781200-79787800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:79781200-79803200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:79781400-79786200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:79781600-79784200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:79781600-79785600	Enhancers	NHEK	skin
17	chr7:79781600-79789000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:79781600-79794200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:79781600-79795200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:79781600-79797000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:79782200-79785000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:79782400-79786600	Enhancers	Brain Cingulate Gyrus	brain
23	chr7:79782600-79784400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:79782600-79784400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:79782600-79784800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr7:79782600-79785200	Enhancers	A549	lung
27	chr7:79782800-79784200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:79782800-79784200	Enhancers	HMEC	breast
29	chr7:79782800-79784200	Enhancers	Osteobl	bone
30	chr7:79782800-79785000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:79782800-79785000	Enhancers	Rectal Smooth Muscle	rectum
32	chr7:79782800-79786200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:79782800-79786400	Enhancers	Adipose Nuclei	Adipose
34	chr7:79782800-79787000	Enhancers	Brain Hippocampus Middle	brain
35	chr7:79783200-79784800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:79783200-79794000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:79783400-79784600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:79783400-79784800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:79783400-79786000	Enhancers	Brain Anterior Caudate	brain
40	chr7:79783400-79786000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr7:79783600-79785200	Enhancers	Colon Smooth Muscle	Colon
42	chr7:79783600-79785400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr7:79783600-79785400	Enhancers	Liver	Liver
44	chr7:79783600-79788200	Weak transcription	Gastric	stomach
45	chr7:79783600-79789600	Weak transcription	Left Ventricle	heart
46	chr7:79783600-79791200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:79783800-79787200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:79783800-79788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr7:79783800-79806600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:79784000-79784400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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