Variant report

Variant	rs7576009
Chromosome Location	chr2:30588810-30588811
allele	A/C
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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1252614	0.80[EUR][1000 genomes]
rs12988612	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56082933	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56185028	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6722899	1.00[CHB][hapmap]
rs6741397	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6744525	0.85[EUR][1000 genomes]
rs7578449	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs7579095	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs829586	0.81[EUR][1000 genomes]
rs829587	0.81[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

No data

Chromatin state (count:55 , 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	chr2:30585600-30589000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:30585600-30589000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:30585600-30589000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:30585600-30589000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:30585600-30589200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:30585600-30589400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:30585600-30605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:30586000-30589000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:30586000-30589000	Weak transcription	Placenta	Placenta
15	chr2:30586000-30589000	Weak transcription	Fetal Thymus	thymus
16	chr2:30586000-30589400	Weak transcription	Esophagus	oesophagus
17	chr2:30586200-30589000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:30586200-30589000	Weak transcription	Spleen	Spleen
19	chr2:30586200-30589200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:30586200-30589400	Weak transcription	Right Atrium	heart
21	chr2:30586200-30591000	Weak transcription	Fetal Kidney	kidney
22	chr2:30586200-30594800	Weak transcription	Ovary	ovary
23	chr2:30586400-30589000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:30586400-30589000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:30586400-30589200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:30586400-30590600	Weak transcription	Fetal Lung	lung
27	chr2:30586400-30591000	Weak transcription	HSMM	muscle
28	chr2:30586400-30591400	Weak transcription	Aorta	Aorta
29	chr2:30586600-30589000	Weak transcription	NHLF	lung
30	chr2:30586600-30591000	Weak transcription	HSMMtube	muscle
31	chr2:30586600-30594600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:30586800-30589200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:30586800-30590400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:30587000-30591000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:30587400-30593000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:30587600-30591600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:30588000-30590200	Enhancers	Primary T cells from cord blood	blood
38	chr2:30588200-30589800	Enhancers	GM12878-XiMat	blood
39	chr2:30588400-30589000	Weak transcription	Thymus	Thymus
40	chr2:30588400-30589200	Enhancers	Rectal Smooth Muscle	rectum
41	chr2:30588400-30589800	Enhancers	Left Ventricle	heart
42	chr2:30588400-30589800	Enhancers	Right Ventricle	heart
43	chr2:30588400-30590200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr2:30588400-30590400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr2:30588400-30597800	Enhancers	NHDF-Ad	bronchial
46	chr2:30588600-30589600	Weak transcription	Lung	lung
47	chr2:30588600-30590600	Weak transcription	Pancreas	Pancrea
48	chr2:30588800-30589600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:30588800-30590000	Enhancers	Primary B cells from peripheral blood	blood
50	chr2:30588800-30590000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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