Variant report

Variant	rs2428468
Chromosome Location	chr7:79806602-79806603
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10252512	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706672	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2428470	0.95[EUR][1000 genomes]
rs2428471	0.95[EUR][1000 genomes]
rs2523191	0.95[EUR][1000 genomes]
rs2523193	0.95[EUR][1000 genomes]
rs2523194	0.95[EUR][1000 genomes]
rs2523195	0.95[EUR][1000 genomes]
rs2523196	0.98[EUR][1000 genomes]
rs2714455	0.92[EUR][1000 genomes]
rs2714456	0.91[EUR][1000 genomes]
rs2714466	0.95[EUR][1000 genomes]
rs4489243	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4552840	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60873462	0.82[EUR][1000 genomes]
rs6467043	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6969850	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719057	0.85[EUR][1000 genomes]
rs7807610	0.89[EUR][1000 genomes];1.00[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	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79789400-79814200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:79792800-79809000	Weak transcription	Fetal Kidney	kidney
3	chr7:79795400-79816000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:79795600-79809000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:79796400-79816000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:79800800-79806800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:79801800-79840400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:79802400-79813200	Weak transcription	Placenta	Placenta
9	chr7:79802600-79807000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:79802600-79809000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:79802600-79820200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:79803000-79807200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:79803200-79806800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:79803200-79806800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:79803200-79806800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:79803200-79806800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:79803200-79806800	Weak transcription	Brain Angular Gyrus	brain
18	chr7:79803200-79807000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:79803200-79812000	Weak transcription	NHEK	skin
20	chr7:79803200-79812200	Weak transcription	Ovary	ovary
21	chr7:79803400-79806800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:79803400-79806800	Weak transcription	Adipose Nuclei	Adipose
23	chr7:79803400-79806800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:79803400-79807000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:79803400-79810000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:79803400-79811800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:79803400-79812000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:79804400-79807200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:79804800-79813200	Weak transcription	Left Ventricle	heart
30	chr7:79805000-79806800	Weak transcription	Brain Substantia Nigra	brain
31	chr7:79805400-79809000	Weak transcription	Fetal Lung	lung
32	chr7:79805800-79806800	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:79805800-79807200	Weak transcription	Colon Smooth Muscle	Colon
34	chr7:79805800-79807600	Weak transcription	Gastric	stomach
35	chr7:79806000-79810000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:79806000-79811200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:79806000-79816000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:79806600-79807000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:79806600-79807200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:79806600-79807600	Enhancers	Primary T cells from cord blood	blood
41	chr7:79806600-79807600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:79806600-79807800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:79806600-79807800	Enhancers	NHDF-Ad	bronchial
44	chr7:79806600-79810000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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