Variant report

Variant	rs73925149
Chromosome Location	chr2:30591061-30591062
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30585635..30588631-chr2:30590079..30592633,2	K562	blood:
2	chr2:30581763..30583811-chr2:30589547..30591280,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs4356698	1.00[AMR][1000 genomes]
rs55816765	1.00[AMR][1000 genomes]
rs55987207	1.00[AMR][1000 genomes]
rs57076287	1.00[AMR][1000 genomes]
rs57128291	1.00[AMR][1000 genomes]
rs58020576	1.00[AMR][1000 genomes]
rs58426874	1.00[AMR][1000 genomes]
rs59728852	1.00[AMR][1000 genomes]
rs60883034	1.00[AMR][1000 genomes]
rs60893697	1.00[AMR][1000 genomes]
rs61045659	1.00[AMR][1000 genomes]
rs73925136	1.00[AMR][1000 genomes]
rs73925138	1.00[AMR][1000 genomes]
rs73925142	1.00[AMR][1000 genomes]
rs73925144	1.00[AMR][1000 genomes]
rs73925145	1.00[AMR][1000 genomes]
rs73925146	1.00[AMR][1000 genomes]
rs73925147	1.00[AMR][1000 genomes]
rs73925148	1.00[AMR][1000 genomes]
rs73925154	1.00[AMR][1000 genomes]
rs73925159	1.00[AMR][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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30582000-30591600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:30583200-30591400	Weak transcription	Gastric	stomach
3	chr2:30585400-30591200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:30585600-30605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:30586200-30594800	Weak transcription	Ovary	ovary
6	chr2:30586400-30591400	Weak transcription	Aorta	Aorta
7	chr2:30586600-30594600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:30587400-30593000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:30587600-30591600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:30588400-30597800	Enhancers	NHDF-Ad	bronchial
11	chr2:30588800-30591600	Enhancers	NH-A	brain
12	chr2:30589000-30591600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:30589000-30592200	Enhancers	NHLF	lung
14	chr2:30589200-30592000	Weak transcription	Thymus	Thymus
15	chr2:30589600-30593800	Weak transcription	Primary B cells from cord blood	blood
16	chr2:30589600-30594800	Weak transcription	Placenta	Placenta
17	chr2:30589800-30591200	Weak transcription	Esophagus	oesophagus
18	chr2:30589800-30591200	Weak transcription	Spleen	Spleen
19	chr2:30589800-30593600	Weak transcription	Fetal Thymus	thymus
20	chr2:30589800-30594800	Weak transcription	Adipose Nuclei	Adipose
21	chr2:30589800-30594800	Weak transcription	Left Ventricle	heart
22	chr2:30589800-30595800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:30590000-30593800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr2:30590400-30592400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:30590400-30594000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr2:30590600-30591600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:30590600-30591800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:30590600-30591800	Enhancers	Fetal Lung	lung
29	chr2:30590600-30592200	Enhancers	Pancreas	Pancrea
30	chr2:30590600-30592800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:30590800-30591400	Enhancers	Fetal Heart	heart
32	chr2:30591000-30591200	Weak transcription	Lung	lung
33	chr2:30591000-30591200	Flanking Active TSS	Osteobl	bone
34	chr2:30591000-30591400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:30591000-30591400	Enhancers	Fetal Muscle Trunk	muscle
36	chr2:30591000-30591400	Enhancers	Right Atrium	heart
37	chr2:30591000-30591600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:30591000-30591600	Enhancers	Fetal Muscle Leg	muscle
39	chr2:30591000-30591600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:30591000-30591600	Enhancers	HSMMtube	muscle
41	chr2:30591000-30591800	Enhancers	Fetal Kidney	kidney
42	chr2:30591000-30591800	Enhancers	HSMM	muscle

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