Variant report

Variant	rs186949539
Chromosome Location	chr2:30593305-30593306
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30574396..30577189-chr2:30593038..30595856,2	K562	blood:
2	chr2:30453443..30455973-chr2:30592858..30597283,4	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv1010639	chr2:30593100-30598411	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30585600-30605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:30586200-30594800	Weak transcription	Ovary	ovary
3	chr2:30586600-30594600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:30588400-30597800	Enhancers	NHDF-Ad	bronchial
5	chr2:30589600-30593800	Weak transcription	Primary B cells from cord blood	blood
6	chr2:30589600-30594800	Weak transcription	Placenta	Placenta
7	chr2:30589800-30593600	Weak transcription	Fetal Thymus	thymus
8	chr2:30589800-30594800	Weak transcription	Adipose Nuclei	Adipose
9	chr2:30589800-30594800	Weak transcription	Left Ventricle	heart
10	chr2:30589800-30595800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:30590000-30593800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:30590400-30594000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:30591400-30594600	Weak transcription	Fetal Heart	heart
14	chr2:30591400-30594800	Weak transcription	Right Atrium	heart
15	chr2:30591600-30594600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:30591600-30594800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:30591600-30594800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:30591600-30595000	Weak transcription	HSMMtube	muscle
19	chr2:30591600-30595200	Weak transcription	Aorta	Aorta
20	chr2:30591600-30596600	Weak transcription	NH-A	brain
21	chr2:30591600-30596800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:30591600-30596800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:30591600-30597000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:30591800-30594800	Weak transcription	Fetal Kidney	kidney
25	chr2:30592200-30593400	Weak transcription	Thymus	Thymus
26	chr2:30592200-30594800	Weak transcription	NHLF	lung
27	chr2:30592200-30597400	Weak transcription	Spleen	Spleen
28	chr2:30592400-30594200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:30592400-30594400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:30592800-30594600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:30592800-30594600	Weak transcription	Osteobl	bone
32	chr2:30592800-30594800	Weak transcription	Fetal Lung	lung
33	chr2:30593000-30594600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:30593000-30594600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:30593000-30601000	Weak transcription	Pancreas	Pancrea

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