Variant report

Variant	rs58597212
Chromosome Location	chr10:5588369-5588370
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5496908..5513504-chr10:5583876..5597686,82	MCF-7	breast:
2	chr10:5445369..5448166-chr10:5587302..5589986,2	MCF-7	breast:
3	chr10:5587548..5591449-chr10:5726365..5728236,4	MCF-7	breast:
4	chr10:5587641..5590232-chr10:5707987..5710327,3	MCF-7	breast:
5	chr10:5585149..5591741-chr10:5652577..5661008,17	MCF-7	breast:
6	chr10:5497697..5500055-chr10:5587894..5589744,2	K562	blood:
7	chr10:5586407..5588620-chr10:5668279..5670654,2	MCF-7	breast:
8	chr10:5585944..5594625-chr10:5661457..5667151,17	MCF-7	breast:
9	chr10:5586412..5588997-chr10:5727556..5730290,2	MCF-7	breast:
10	chr10:3110850..3113792-chr10:5588161..5590557,2	MCF-7	breast:
11	chr10:5508507..5509232-chr10:5588241..5589019,2	MCF-7	breast:
12	chr10:5586562..5592727-chr10:5636153..5640876,13	MCF-7	breast:
13	chr10:5583637..5601494-chr10:5650599..5672411,88	MCF-7	breast:
14	chr10:5587765..5589706-chr22:39922361..39924738,2	MCF-7	breast:
15	chr10:5587706..5590617-chr10:5700904..5703703,3	MCF-7	breast:
16	chr10:5586798..5589414-chr2:42683189..42685945,2	MCF-7	breast:
17	chr10:5586583..5591953-chr10:5698330..5703488,13	MCF-7	breast:
18	chr10:5586752..5588794-chr2:156605059..156606559,2	MCF-7	breast:
19	chr10:5491217..5495101-chr10:5587817..5590057,4	K562	blood:
20	chr10:5587874..5589671-chr9:131939043..131941624,2	MCF-7	breast:
21	chr10:5587958..5589853-chr20:55838179..55840776,2	MCF-7	breast:
22	chr10:5584975..5598212-chr10:5621607..5634806,86	MCF-7	breast:
23	chr10:5588202..5590843-chr7:101522769..101524342,2	MCF-7	breast:
24	chr10:5586709..5589122-chr10:5643770..5645701,3	MCF-7	breast:
25	chr10:5585544..5594047-chr10:5703661..5709987,18	MCF-7	breast:
26	chr10:5485039..5496687-chr10:5584772..5598184,85	MCF-7	breast:
27	chr10:5491740..5493575-chr10:5587817..5589771,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178462	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000228685	Chromatin interaction
ENSG00000196372	Chromatin interaction
ENSG00000173848	Chromatin interaction
ENSG00000228951	Chromatin interaction
ENSG00000242147	Chromatin interaction
ENSG00000067057	Chromatin interaction
ENSG00000188483	Chromatin interaction
ENSG00000231483	Chromatin interaction
ENSG00000204055	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58695646	1.00[AMR][1000 genomes]
rs7082604	1.00[AMR][1000 genomes]
rs7087503	1.00[AMR][1000 genomes]
rs74114930	1.00[AMR][1000 genomes]
rs74114936	1.00[AMR][1000 genomes]
rs74114943	1.00[AMR][1000 genomes]
rs74114949	1.00[AMR][1000 genomes]
rs74114953	1.00[AMR][1000 genomes]
rs74114956	1.00[AMR][1000 genomes]
rs74114959	1.00[AMR][1000 genomes]
rs74114987	1.00[AMR][1000 genomes]
rs74114988	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv831774	chr10:5463556-5657421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1051283	chr10:5505474-5619941	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1049523	chr10:5542109-5619941	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv523491	chr10:5542109-5720067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv1052002	chr10:5544571-5619941	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1038479	chr10:5545773-5619941	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv2757364	chr10:5557024-5720512	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv894800	chr10:5572893-5621628	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5585000-5589800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr10:5586000-5591200	Enhancers	Liver	Liver
3	chr10:5586200-5588800	Enhancers	HepG2	liver
4	chr10:5586200-5589000	Enhancers	Aorta	Aorta
5	chr10:5586200-5589800	Enhancers	Fetal Intestine Large	intestine
6	chr10:5586200-5589800	Enhancers	HMEC	breast
7	chr10:5586200-5590200	Enhancers	K562	blood
8	chr10:5586200-5591400	Enhancers	Pancreas	Pancrea
9	chr10:5586200-5591400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr10:5586200-5596600	Enhancers	Placenta	Placenta
11	chr10:5586200-5597000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:5586400-5589600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr10:5586400-5591800	Enhancers	NHLF	lung
14	chr10:5586400-5592600	Enhancers	Fetal Lung	lung
15	chr10:5586400-5597800	Enhancers	Esophagus	oesophagus
16	chr10:5586800-5589800	Enhancers	Fetal Intestine Small	intestine
17	chr10:5586800-5590600	Enhancers	Small Intestine	intestine
18	chr10:5587000-5588400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:5587000-5588400	Enhancers	Stomach Smooth Muscle	stomach
20	chr10:5587000-5589000	Enhancers	Right Atrium	heart
21	chr10:5587000-5589600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr10:5587000-5591200	Enhancers	Fetal Muscle Trunk	muscle
23	chr10:5587000-5591800	Enhancers	Lung	lung
24	chr10:5587000-5592000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:5587000-5597600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr10:5587200-5588600	Weak transcription	Brain Substantia Nigra	brain
27	chr10:5587200-5588800	Enhancers	Adipose Nuclei	Adipose
28	chr10:5587200-5588800	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr10:5587200-5589200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr10:5587200-5589400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr10:5587200-5589600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:5587200-5589600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr10:5587200-5589600	Enhancers	Duodenum Mucosa	Duodenum
34	chr10:5587200-5589600	Enhancers	NH-A	brain
35	chr10:5587200-5591000	Enhancers	Left Ventricle	heart
36	chr10:5587200-5591200	Flanking Active TSS	A549	lung
37	chr10:5587200-5591400	Flanking Active TSS	Hela-S3	cervix
38	chr10:5587200-5591800	Enhancers	NHDF-Ad	bronchial
39	chr10:5587200-5594200	Enhancers	Fetal Muscle Leg	muscle
40	chr10:5587400-5588400	Weak transcription	Right Ventricle	heart
41	chr10:5587400-5588800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:5587400-5589600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:5587400-5589600	Enhancers	HUVEC	blood vessel
44	chr10:5587400-5589800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr10:5587400-5591400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:5587400-5593200	Weak transcription	Thymus	Thymus
47	chr10:5587600-5588400	Enhancers	Ovary	ovary
48	chr10:5587600-5588600	Enhancers	Fetal Stomach	stomach
49	chr10:5587600-5589200	Enhancers	NHEK	skin
50	chr10:5587600-5589600	Enhancers	Muscle Satellite Cultured Cells	--

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