Variant report

rSNPs within LD-proxies of this variant (count:19)

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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185737800-185758800	Weak transcription	Fetal Lung	lung
2	chr1:185753600-185759600	Weak transcription	Pancreas	Pancrea
3	chr1:185755200-185758800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:185755200-185759400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:185755200-185760000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:185755400-185766600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:185756400-185761600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:185756600-185757800	Weak transcription	Osteobl	bone
9	chr1:185756600-185758400	Weak transcription	Left Ventricle	heart
10	chr1:185756800-185758200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:185756800-185758400	Weak transcription	Aorta	Aorta
12	chr1:185756800-185758400	Weak transcription	Fetal Heart	heart
13	chr1:185756800-185758800	Weak transcription	NHDF-Ad	bronchial
14	chr1:185757400-185758400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:185757600-185757800	Enhancers	Adipose Nuclei	Adipose
16	chr1:185757600-185757800	Enhancers	Right Atrium	heart
17	chr1:185757600-185757800	Enhancers	HUVEC	blood vessel
18	chr1:185757600-185758000	Enhancers	Fetal Kidney	kidney
19	chr1:185757600-185760000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:185757600-185760200	Enhancers	Fetal Intestine Large	intestine

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