Variant report

Variant	rs543589532
Chromosome Location	chr13:50977289-50977290
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	chr13:50697982..50700484-chr13:50975890..50978700,2	MCF-7	breast:
2	chr13:50976218..50978000-chr13:50981678..50984130,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv826640	chr13:50976454-50978128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr13:50966600-50979800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:50968200-50985400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:50968200-50986600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:50972200-50985400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr13:50973200-50979200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:50974400-50977400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:50974400-50977400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:50974400-50977800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:50974600-50977600	Enhancers	Hela-S3	cervix
10	chr13:50975400-50977400	Weak transcription	Lung	lung
11	chr13:50975400-50985200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:50975400-50996200	Weak transcription	Right Ventricle	heart
13	chr13:50975600-50977400	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr13:50975600-50978000	Enhancers	Fetal Heart	heart
15	chr13:50975600-50978600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr13:50975600-50979000	Weak transcription	Fetal Lung	lung
17	chr13:50975800-50977400	Weak transcription	Colon Smooth Muscle	Colon
18	chr13:50975800-50977600	Weak transcription	Fetal Stomach	stomach
19	chr13:50975800-50983600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr13:50975800-50985200	Weak transcription	Right Atrium	heart
21	chr13:50976000-50977600	Enhancers	Osteobl	bone
22	chr13:50976000-50978600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:50976000-50978600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr13:50976200-50977400	Weak transcription	Brain Anterior Caudate	brain
25	chr13:50976600-50978200	Weak transcription	Brain Hippocampus Middle	brain
26	chr13:50976600-50985200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:50976800-50977600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:50976800-50978000	Enhancers	HepG2	liver
29	chr13:50977000-50977400	Enhancers	Esophagus	oesophagus
30	chr13:50977000-50977400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr13:50977000-50977800	Enhancers	Fetal Thymus	thymus
32	chr13:50977000-50978200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr13:50977000-50978200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr13:50977000-50985000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:50977200-50977400	Enhancers	Thymus	Thymus
36	chr13:50977200-50977600	Enhancers	Fetal Muscle Leg	muscle
37	chr13:50977200-50977600	Enhancers	Gastric	stomach
38	chr13:50977200-50977600	Enhancers	Pancreas	Pancrea
39	chr13:50977200-50977800	Enhancers	Left Ventricle	heart
40	chr13:50977200-50977800	Enhancers	Psoas Muscle	Psoas
41	chr13:50977200-50977800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr13:50977200-50977800	Enhancers	A549	lung
43	chr13:50977200-50982400	Weak transcription	NHDF-Ad	bronchial

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