Variant report

Variant	rs2964563
Chromosome Location	chr5:114753598-114753599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114753023..114755255-chr5:114878978..114881538,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13170010	1.00[AMR][1000 genomes]
rs13173913	0.83[EUR][1000 genomes]
rs34034672	1.00[AMR][1000 genomes]
rs34724631	1.00[AMR][1000 genomes]
rs35690726	1.00[AMR][1000 genomes]
rs62371183	1.00[AMR][1000 genomes]

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	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114749400-114756600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:114749600-114754000	Enhancers	Brain Hippocampus Middle	brain
3	chr5:114749600-114754200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:114749800-114754000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr5:114750000-114758000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:114750800-114755400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:114751000-114754600	Weak transcription	Right Atrium	heart
8	chr5:114751000-114756200	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr5:114751200-114754400	Weak transcription	HUVEC	blood vessel
10	chr5:114751200-114754600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:114751200-114754600	Weak transcription	Psoas Muscle	Psoas
12	chr5:114751200-114754600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:114751200-114754800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:114751200-114755000	Weak transcription	Osteobl	bone
15	chr5:114751200-114755200	Weak transcription	HSMM	muscle
16	chr5:114751200-114755400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:114751200-114755400	Weak transcription	Adipose Nuclei	Adipose
18	chr5:114751200-114755400	Weak transcription	Fetal Muscle Leg	muscle
19	chr5:114751200-114755400	Weak transcription	Left Ventricle	heart
20	chr5:114751200-114755400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr5:114751200-114755400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:114751200-114755400	Weak transcription	HSMMtube	muscle
23	chr5:114751200-114756000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:114751200-114759400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:114751200-114760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:114751400-114753600	Enhancers	Brain Substantia Nigra	brain
27	chr5:114751400-114754600	Weak transcription	NHEK	skin
28	chr5:114751400-114755400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:114751400-114755600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:114751600-114758000	Weak transcription	Right Ventricle	heart
31	chr5:114751800-114753800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:114751800-114754000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:114751800-114754200	Weak transcription	Colonic Mucosa	Colon
34	chr5:114751800-114755400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr5:114751800-114755600	Weak transcription	Fetal Heart	heart
36	chr5:114751800-114759400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:114752000-114759400	Weak transcription	Lung	lung
38	chr5:114752200-114753800	Weak transcription	Duodenum Mucosa	Duodenum
39	chr5:114752400-114754800	Weak transcription	HMEC	breast
40	chr5:114752400-114755000	Weak transcription	NH-A	brain
41	chr5:114752600-114754400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr5:114752600-114754800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr5:114752600-114758200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr5:114752800-114753800	Weak transcription	Fetal Intestine Large	intestine
45	chr5:114752800-114753800	Weak transcription	Fetal Intestine Small	intestine
46	chr5:114752800-114754400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:114752800-114754600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:114753000-114754000	Weak transcription	NHDF-Ad	bronchial
49	chr5:114753200-114754600	Weak transcription	NHLF	lung
50	chr5:114753200-114755200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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