Variant report

Variant	rs1861058
Chromosome Location	chr5:57075654-57075655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57074803..57075728-chr5:57758254..57758808,2	MCF-7	breast:
2	chr5:57071682..57076703-chr5:57754129..57758599,8	MCF-7	breast:
3	chr5:56594184..56594999-chr5:57075056..57075875,2	MCF-7	breast:
4	chr5:57075317..57075885-chr5:58303152..58303944,2	K562	blood:
5	chr5:57073503..57077581-chr5:57182588..57186166,4	MCF-7	breast:
6	chr5:57071579..57076215-chr5:57753811..57758223,5	MCF-7	breast:
7	chr5:57074874..57076356-chr5:57755786..57757132,8	MCF-7	breast:
8	chr5:57074121..57076922-chr5:57158153..57160204,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

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

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

rs_ID	r²[population]
rs1861059	0.83[EUR][1000 genomes]
rs2568537	0.83[EUR][1000 genomes]
rs854024	0.83[EUR][1000 genomes]
rs854028	0.83[EUR][1000 genomes]
rs854031	0.83[EUR][1000 genomes]
rs854033	0.83[EUR][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	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2756302	chr5:56978143-57180143	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830310	chr5:56989346-57176006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2763454	chr5:57006531-57161140	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57065400-57076000	Weak transcription	Aorta	Aorta
2	chr5:57071200-57076400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:57071800-57076600	Enhancers	Fetal Lung	lung
4	chr5:57072400-57076400	Enhancers	Osteobl	bone
5	chr5:57072400-57076600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr5:57072600-57079600	Weak transcription	Ovary	ovary
7	chr5:57073000-57075800	Enhancers	Liver	Liver
8	chr5:57073200-57076000	Enhancers	HUVEC	blood vessel
9	chr5:57073200-57077000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:57073400-57076600	Enhancers	A549	lung
11	chr5:57073800-57076600	Enhancers	Fetal Intestine Large	intestine
12	chr5:57074000-57076600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:57074000-57077000	Enhancers	Fetal Heart	heart
14	chr5:57074200-57076800	Enhancers	Fetal Intestine Small	intestine
15	chr5:57074200-57076800	Enhancers	NH-A	brain
16	chr5:57074200-57077000	Enhancers	Stomach Mucosa	stomach
17	chr5:57074600-57075800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr5:57074600-57076000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:57074600-57076000	Enhancers	Fetal Stomach	stomach
20	chr5:57074600-57076400	Enhancers	HSMM	muscle
21	chr5:57075000-57075800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:57075000-57076000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:57075000-57076000	Weak transcription	Left Ventricle	heart
24	chr5:57075000-57076000	Weak transcription	Pancreas	Pancrea
25	chr5:57075000-57076600	Enhancers	HMEC	breast
26	chr5:57075400-57076000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr5:57075400-57076200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr5:57075400-57076400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:57075400-57076600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr5:57075400-57077400	Enhancers	Fetal Muscle Leg	muscle
31	chr5:57075400-57080400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:57075600-57076000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:57075600-57076200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr5:57075600-57076400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:57075600-57076400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:57075600-57076400	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr5:57075600-57076400	Enhancers	NHEK	skin
38	chr5:57075600-57076600	Enhancers	HSMMtube	muscle
39	chr5:57075600-57077000	Enhancers	Adipose Nuclei	Adipose

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