Variant report

Variant	rs563361548
Chromosome Location	chr5:114758798-114758799
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	chr5:114755931..114757845-chr5:114758052..114760367,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv3361244	chr5:114756303-114758901	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv1808281	chr5:114756637-114759167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv1808592	chr5:114756637-114759167	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1820791	chr5:114756637-114759167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1822690	chr5:114756637-114759167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv1842990	chr5:114756637-114759167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv1850498	chr5:114756637-114759167	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv442960	chr5:114756637-114759167	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114751200-114759400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:114751200-114760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:114751800-114759400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:114752000-114759400	Weak transcription	Lung	lung
5	chr5:114754000-114761600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:114754800-114766800	Weak transcription	Fetal Intestine Large	intestine
7	chr5:114755200-114762200	Weak transcription	Fetal Intestine Small	intestine
8	chr5:114756200-114759200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:114756400-114761600	Weak transcription	NH-A	brain
10	chr5:114756400-114762200	Weak transcription	Small Intestine	intestine
11	chr5:114757800-114760200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:114758000-114758800	Enhancers	Right Atrium	heart
13	chr5:114758000-114759000	Enhancers	Stomach Smooth Muscle	stomach
14	chr5:114758000-114759600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:114758000-114759600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:114758000-114759600	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr5:114758000-114759600	Enhancers	HMEC	breast
18	chr5:114758000-114759800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:114758000-114759800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:114758000-114759800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:114758000-114760000	Enhancers	Adipose Nuclei	Adipose
22	chr5:114758000-114760000	Enhancers	Psoas Muscle	Psoas
23	chr5:114758000-114760000	Enhancers	Stomach Mucosa	stomach
24	chr5:114758000-114760000	Enhancers	HUVEC	blood vessel
25	chr5:114758000-114760000	Enhancers	NHDF-Ad	bronchial
26	chr5:114758000-114760400	Enhancers	Fetal Muscle Leg	muscle
27	chr5:114758000-114760400	Enhancers	Rectal Smooth Muscle	rectum
28	chr5:114758000-114760600	Enhancers	Colonic Mucosa	Colon
29	chr5:114758000-114760600	Enhancers	Colon Smooth Muscle	Colon
30	chr5:114758000-114760600	Enhancers	Right Ventricle	heart
31	chr5:114758000-114760800	Enhancers	Fetal Heart	heart
32	chr5:114758000-114762400	Enhancers	Left Ventricle	heart
33	chr5:114758000-114762400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:114758000-114762800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr5:114758200-114759600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:114758400-114759400	Enhancers	HSMMtube	muscle
37	chr5:114758400-114759600	Enhancers	Duodenum Mucosa	Duodenum
38	chr5:114758400-114759800	Enhancers	Hela-S3	cervix
39	chr5:114758400-114760000	Enhancers	NHEK	skin
40	chr5:114758400-114760200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr5:114758400-114760200	Enhancers	HSMM	muscle
42	chr5:114758600-114758800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:114758600-114759000	Enhancers	Brain Anterior Caudate	brain
44	chr5:114758600-114759000	Weak transcription	Pancreas	Pancrea
45	chr5:114758600-114759400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:114758600-114759400	Enhancers	A549	lung
47	chr5:114758600-114759600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:114758600-114759600	Enhancers	Osteobl	bone
49	chr5:114758600-114759800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:114758600-114760000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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