Variant report

Variant	rs567407965
Chromosome Location	chr2:56148219-56148220
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56145609..56148482-chr2:56152005..56153536,2	MCF-7	breast:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3430118	chr2:56147911-56152306	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56129200-56150200	Weak transcription	Pancreas	Pancrea
2	chr2:56132000-56149000	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:56137400-56149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:56138800-56149600	Transcr. at gene 5' and 3'	HUVEC	blood vessel
5	chr2:56142200-56149800	Weak transcription	Gastric	stomach
6	chr2:56142400-56149400	Weak transcription	Right Ventricle	heart
7	chr2:56142600-56149200	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:56143400-56149000	Weak transcription	Fetal Kidney	kidney
9	chr2:56143800-56148600	Weak transcription	Right Atrium	heart
10	chr2:56143800-56150400	Weak transcription	Spleen	Spleen
11	chr2:56144000-56149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:56144200-56148400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:56144200-56149000	Weak transcription	Fetal Lung	lung
14	chr2:56144800-56149600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:56145000-56149000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:56145000-56149000	Weak transcription	Ovary	ovary
17	chr2:56145000-56149000	Weak transcription	HSMMtube	muscle
18	chr2:56145000-56149400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:56145000-56149400	Weak transcription	Fetal Stomach	stomach
20	chr2:56145200-56149000	Weak transcription	NH-A	brain
21	chr2:56145200-56149400	Weak transcription	Lung	lung
22	chr2:56145400-56148800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:56145400-56149000	Weak transcription	NHLF	lung
24	chr2:56146200-56149400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:56146200-56149400	Weak transcription	Brain Substantia Nigra	brain
26	chr2:56146400-56149400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:56146800-56149200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:56146800-56150000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:56147000-56149000	Strong transcription	HSMM	muscle
30	chr2:56147000-56149400	Weak transcription	A549	lung
31	chr2:56147400-56149200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:56147400-56149800	Transcr. at gene 5' and 3'	Osteobl	bone
33	chr2:56147400-56151400	Active TSS	Aorta	Aorta
34	chr2:56147600-56148600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:56147600-56148600	Weak transcription	Placenta	Placenta
36	chr2:56148000-56148400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:56148000-56148600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:56148000-56148600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:56148000-56148600	Enhancers	Adipose Nuclei	Adipose
40	chr2:56148000-56148800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:56148000-56148800	Weak transcription	Brain Anterior Caudate	brain
42	chr2:56148000-56149000	Weak transcription	HMEC	breast
43	chr2:56148200-56148600	Genic enhancers	NHEK	skin

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