Variant report

Variant	rs58631560
Chromosome Location	chr5:114852072-114852073
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114851275..114854449-chr5:114878994..114881449,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12110084	1.00[AFR][1000 genomes]
rs12110088	1.00[AFR][1000 genomes]
rs17137912	1.00[AFR][1000 genomes]
rs17137932	1.00[AFR][1000 genomes]
rs17137960	1.00[AFR][1000 genomes]
rs17137963	1.00[AFR][1000 genomes]
rs59021008	1.00[AFR][1000 genomes]
rs61471519	1.00[AFR][1000 genomes]

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	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
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats 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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114843200-114854800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:114843200-114858800	Weak transcription	Left Ventricle	heart
3	chr5:114843600-114860000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:114844000-114859000	Weak transcription	HSMMtube	muscle
5	chr5:114844200-114853200	Weak transcription	NHDF-Ad	bronchial
6	chr5:114844200-114854200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:114844200-114855000	Weak transcription	HSMM	muscle
8	chr5:114844200-114858000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:114844200-114858800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr5:114844200-114859800	Weak transcription	Osteobl	bone
11	chr5:114845400-114853400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:114845400-114858600	Weak transcription	Brain Hippocampus Middle	brain
13	chr5:114845600-114862400	Weak transcription	Fetal Heart	heart
14	chr5:114846400-114860000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:114846600-114858200	Weak transcription	A549	lung
16	chr5:114846600-114860000	Weak transcription	Ovary	ovary
17	chr5:114846800-114854800	Weak transcription	Dnd41	blood
18	chr5:114846800-114858600	Weak transcription	Brain Anterior Caudate	brain
19	chr5:114846800-114860000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:114847200-114858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:114847600-114858600	Weak transcription	Primary T cells from cord blood	blood
22	chr5:114848000-114858200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:114848000-114860400	Weak transcription	Esophagus	oesophagus
24	chr5:114848400-114858600	Weak transcription	Brain Germinal Matrix	brain
25	chr5:114848400-114860200	Weak transcription	Aorta	Aorta
26	chr5:114848600-114857200	Weak transcription	GM12878-XiMat	blood
27	chr5:114848600-114860200	Weak transcription	Thymus	Thymus
28	chr5:114849000-114858600	Weak transcription	Primary B cells from cord blood	blood
29	chr5:114849200-114858200	Weak transcription	K562	blood
30	chr5:114849200-114859200	Weak transcription	HepG2	liver
31	chr5:114849400-114856800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:114849400-114858600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:114850000-114855800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:114850400-114852400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:114850400-114853400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:114850600-114858200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:114850800-114858000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:114851200-114858600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr5:114851600-114858400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr5:114851600-114858400	Weak transcription	NHLF	lung
41	chr5:114851800-114854400	Weak transcription	Adipose Nuclei	Adipose
42	chr5:114851800-114857000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:114851800-114858800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr5:114851800-114859000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:114852000-114853800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr5:114852000-114858000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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