Variant report

Variant	rs545477459
Chromosome Location	chr5:114762257-114762258
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114761971..114764716-chr5:114811734..114814412,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr5:114754800-114766800	Weak transcription	Fetal Intestine Large	intestine
2	chr5:114758000-114762400	Enhancers	Left Ventricle	heart
3	chr5:114758000-114762400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr5:114758000-114762800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr5:114758600-114765400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:114759400-114766000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:114759600-114764400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:114759600-114764600	Weak transcription	Aorta	Aorta
9	chr5:114759600-114766000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:114759600-114766200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:114759800-114764400	Weak transcription	Gastric	stomach
12	chr5:114759800-114767800	Weak transcription	Esophagus	oesophagus
13	chr5:114760000-114763600	Weak transcription	Stomach Mucosa	stomach
14	chr5:114760000-114764400	Weak transcription	Psoas Muscle	Psoas
15	chr5:114760000-114765400	Weak transcription	Pancreas	Pancrea
16	chr5:114760200-114763800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr5:114760400-114762800	Enhancers	Stomach Smooth Muscle	stomach
18	chr5:114760400-114764200	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:114760400-114766800	Weak transcription	Lung	lung
20	chr5:114760400-114767200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:114761000-114762600	Enhancers	Colon Smooth Muscle	Colon
22	chr5:114761400-114762800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:114761400-114763000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:114761600-114762400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:114761600-114762600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:114761600-114762600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:114761600-114762600	Enhancers	HSMM	muscle
28	chr5:114761600-114762800	Enhancers	Rectal Smooth Muscle	rectum
29	chr5:114761600-114762800	Enhancers	NH-A	brain
30	chr5:114761600-114763200	Enhancers	NHDF-Ad	bronchial
31	chr5:114761600-114764000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr5:114761800-114762600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr5:114762200-114762400	Enhancers	Small Intestine	intestine
34	chr5:114762200-114762600	Enhancers	Fetal Intestine Small	intestine
35	chr5:114762200-114762600	Enhancers	HSMMtube	muscle
36	chr5:114762200-114762800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:114762200-114762800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:114762200-114762800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:114762200-114762800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr5:114762200-114762800	Enhancers	NHLF	lung
41	chr5:114762200-114762800	Enhancers	Osteobl	bone
42	chr5:114762200-114763000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:114762200-114763000	Enhancers	A549	lung

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