Variant report

Variant	rs58987875
Chromosome Location	chr17:59447229-59447230
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59415713..59496229-chr20:49401322..49431802,760	MCF-7	breast:
2	chr17:59406940..59447393-chr20:49402944..49426846,176	MCF-7	breast:
3	chr17:57915505..57917405-chr17:59446549..59448241,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124243	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57039216	1.00[AMR][1000 genomes]
rs59586391	1.00[AMR][1000 genomes]
rs7209147	1.00[AMR][1000 genomes]
rs73330773	1.00[AMR][1000 genomes]
rs73330774	1.00[AMR][1000 genomes]
rs73330782	1.00[AMR][1000 genomes]
rs73330790	1.00[AMR][1000 genomes]
rs73332706	0.85[AMR][1000 genomes]
rs8067783	1.00[AMR][1000 genomes]
rs8068680	0.85[AMR][1000 genomes]
rs8072176	1.00[AMR][1000 genomes]
rs8076784	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065939	chr17:59283350-59517730	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	331 gene(s)	inside rSNPs	diseases
2	nsv833505	chr17:59323466-59518007	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	326 gene(s)	inside rSNPs	diseases
3	nsv833506	chr17:59362377-59562984	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	334 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59427800-59450000	Weak transcription	Ovary	ovary
2	chr17:59434000-59455400	Weak transcription	Aorta	Aorta
3	chr17:59438200-59470800	Weak transcription	Esophagus	oesophagus
4	chr17:59439200-59454400	Weak transcription	Hela-S3	cervix
5	chr17:59440200-59448200	Weak transcription	Fetal Brain Female	brain
6	chr17:59440200-59462800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:59440800-59452000	Weak transcription	Fetal Kidney	kidney
8	chr17:59441600-59462200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr17:59442800-59454000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr17:59444000-59457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:59444200-59460400	Weak transcription	Left Ventricle	heart
12	chr17:59444400-59450200	Weak transcription	Liver	Liver
13	chr17:59444400-59467000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr17:59444600-59456600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:59444600-59458400	Weak transcription	Brain Anterior Caudate	brain
16	chr17:59444600-59459800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:59444600-59460600	Weak transcription	Right Ventricle	heart
18	chr17:59444600-59473400	Weak transcription	Right Atrium	heart
19	chr17:59445000-59449400	Weak transcription	Fetal Muscle Leg	muscle
20	chr17:59445000-59449800	Weak transcription	Fetal Lung	lung
21	chr17:59445000-59462200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr17:59445400-59449200	Weak transcription	Thymus	Thymus
23	chr17:59445400-59449600	Strong transcription	Primary T cells from cord blood	blood
24	chr17:59445600-59447400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:59446000-59447400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr17:59446000-59447400	Strong transcription	Fetal Intestine Small	intestine
27	chr17:59446000-59448600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr17:59446200-59448400	Strong transcription	Lung	lung
29	chr17:59446200-59449800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr17:59446400-59449800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:59446600-59450000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr17:59446800-59447400	Strong transcription	Spleen	Spleen
33	chr17:59446800-59448000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr17:59446800-59449400	Weak transcription	Adipose Nuclei	Adipose
35	chr17:59446800-59455600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr17:59446800-59456200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:59446800-59464600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr17:59447000-59448400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:59447000-59458000	Weak transcription	Brain Hippocampus Middle	brain
40	chr17:59447000-59458400	Weak transcription	Brain Angular Gyrus	brain
41	chr17:59447000-59458600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr17:59447000-59473400	Weak transcription	Pancreas	Pancrea
43	chr17:59447200-59447400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr17:59447200-59447600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr17:59447200-59448200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr17:59447200-59448200	Weak transcription	HepG2	liver
47	chr17:59447200-59449800	Weak transcription	Fetal Stomach	stomach
48	chr17:59447200-59453800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:59447200-59454400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr17:59447200-59458000	Weak transcription	Brain Substantia Nigra	brain

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