Variant report

Variant	rs7579095
Chromosome Location	chr2:30589230-30589231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30429668..30431769-chr2:30587537..30589812,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1252614	0.81[EUR][1000 genomes]
rs12988612	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56082933	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56185028	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6741397	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6744525	0.84[EUR][1000 genomes]
rs7576009	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7578449	0.88[CEU][hapmap];1.00[GIH][hapmap];0.83[EUR][1000 genomes]
rs829586	0.82[EUR][1000 genomes]
rs829587	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv873769	chr2:30585638-30625264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7579095	TRAF4	trans	parietal	SCAN
rs7579095	PREB	cis	parietal	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30582000-30591600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:30582400-30589600	Enhancers	Fetal Heart	heart
3	chr2:30583200-30589400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:30583200-30591400	Weak transcription	Gastric	stomach
5	chr2:30585400-30591200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:30585600-30589400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:30585600-30605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:30586000-30589400	Weak transcription	Esophagus	oesophagus
9	chr2:30586200-30589400	Weak transcription	Right Atrium	heart
10	chr2:30586200-30591000	Weak transcription	Fetal Kidney	kidney
11	chr2:30586200-30594800	Weak transcription	Ovary	ovary
12	chr2:30586400-30590600	Weak transcription	Fetal Lung	lung
13	chr2:30586400-30591000	Weak transcription	HSMM	muscle
14	chr2:30586400-30591400	Weak transcription	Aorta	Aorta
15	chr2:30586600-30591000	Weak transcription	HSMMtube	muscle
16	chr2:30586600-30594600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:30586800-30590400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:30587000-30591000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:30587400-30593000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:30587600-30591600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:30588000-30590200	Enhancers	Primary T cells from cord blood	blood
22	chr2:30588200-30589800	Enhancers	GM12878-XiMat	blood
23	chr2:30588400-30589800	Enhancers	Left Ventricle	heart
24	chr2:30588400-30589800	Enhancers	Right Ventricle	heart
25	chr2:30588400-30590200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr2:30588400-30590400	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr2:30588400-30597800	Enhancers	NHDF-Ad	bronchial
28	chr2:30588600-30589600	Weak transcription	Lung	lung
29	chr2:30588600-30590600	Weak transcription	Pancreas	Pancrea
30	chr2:30588800-30589600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:30588800-30590000	Enhancers	Primary B cells from peripheral blood	blood
32	chr2:30588800-30590000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:30588800-30590000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr2:30588800-30590000	Enhancers	Osteobl	bone
35	chr2:30588800-30590400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr2:30588800-30590400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:30588800-30591600	Enhancers	NH-A	brain
38	chr2:30589000-30589400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:30589000-30589600	Enhancers	Primary B cells from cord blood	blood
40	chr2:30589000-30589600	Enhancers	Fetal Muscle Leg	muscle
41	chr2:30589000-30589600	Enhancers	Placenta	Placenta
42	chr2:30589000-30589800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr2:30589000-30589800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:30589000-30589800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:30589000-30589800	Enhancers	Fetal Thymus	thymus
46	chr2:30589000-30589800	Enhancers	Spleen	Spleen
47	chr2:30589000-30590000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:30589000-30590000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr2:30589000-30590000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:30589000-30591600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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