Variant report

Variant	rs187430517
Chromosome Location	chr1:56056001-56056002
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv523489	chr1:56038407-56066503	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461617	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv546303	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56040600-56058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:56050800-56057800	Weak transcription	Right Ventricle	heart
3	chr1:56051200-56057200	Weak transcription	Fetal Heart	heart
4	chr1:56052600-56057800	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:56052800-56060400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:56053800-56058400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:56053800-56058400	Enhancers	NHDF-Ad	bronchial
8	chr1:56054400-56059000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:56054600-56058000	Weak transcription	Aorta	Aorta
10	chr1:56055000-56056200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:56055000-56056200	Enhancers	Fetal Muscle Leg	muscle
12	chr1:56055000-56056200	Enhancers	HMEC	breast
13	chr1:56055200-56056200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:56055200-56056200	Enhancers	Adipose Nuclei	Adipose
15	chr1:56055200-56056200	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:56055200-56056200	Enhancers	HSMM	muscle
17	chr1:56055400-56056200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:56055400-56056200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:56055400-56056200	Enhancers	NHLF	lung
20	chr1:56055400-56056400	Enhancers	Ovary	ovary
21	chr1:56055600-56056200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:56055800-56056200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:56055800-56056200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr1:56055800-56056200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:56056000-56056200	Enhancers	Right Atrium	heart
26	chr1:56056000-56056400	Enhancers	Osteobl	bone
27	chr1:56056000-56057400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:56056000-56058000	Weak transcription	Fetal Stomach	stomach
29	chr1:56056000-56066000	Weak transcription	Fetal Lung	lung

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