Variant report

Variant	rs16945213
Chromosome Location	chr17:59452690-59452691
allele	A/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	chr1:114354469..114355275-chr17:59452634..59453538,2	MCF-7	breast:
3	chr17:59447417..59500105-chr20:49391742..49424382,639	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124243	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000231128	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs57045595	1.00[EUR][1000 genomes]
rs58582622	1.00[EUR][1000 genomes]
rs60549606	1.00[EUR][1000 genomes]
rs6504040	1.00[EUR][1000 genomes]
rs6504041	1.00[EUR][1000 genomes]
rs7211905	1.00[EUR][1000 genomes]
rs7214625	1.00[EUR][1000 genomes]
rs7219765	1.00[EUR][1000 genomes]
rs73322588	1.00[EUR][1000 genomes]
rs73991905	1.00[EUR][1000 genomes]
rs73991907	1.00[EUR][1000 genomes]
rs73991919	1.00[EUR][1000 genomes]
rs9891905	1.00[EUR][1000 genomes]
rs9911414	1.00[EUR][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59434000-59455400	Weak transcription	Aorta	Aorta
2	chr17:59438200-59470800	Weak transcription	Esophagus	oesophagus
3	chr17:59439200-59454400	Weak transcription	Hela-S3	cervix
4	chr17:59440200-59462800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:59441600-59462200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr17:59442800-59454000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr17:59444000-59457400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:59444200-59460400	Weak transcription	Left Ventricle	heart
9	chr17:59444400-59467000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr17:59444600-59456600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:59444600-59458400	Weak transcription	Brain Anterior Caudate	brain
12	chr17:59444600-59459800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:59444600-59460600	Weak transcription	Right Ventricle	heart
14	chr17:59444600-59473400	Weak transcription	Right Atrium	heart
15	chr17:59445000-59462200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr17:59446800-59455600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr17:59446800-59456200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:59446800-59464600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:59447000-59458000	Weak transcription	Brain Hippocampus Middle	brain
20	chr17:59447000-59458400	Weak transcription	Brain Angular Gyrus	brain
21	chr17:59447000-59458600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr17:59447000-59473400	Weak transcription	Pancreas	Pancrea
23	chr17:59447200-59453800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:59447200-59454400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:59447200-59458000	Weak transcription	Brain Substantia Nigra	brain
26	chr17:59447200-59458400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:59447200-59467000	Weak transcription	Gastric	stomach
28	chr17:59447400-59453600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr17:59447400-59455400	Weak transcription	Spleen	Spleen
30	chr17:59447400-59466800	Weak transcription	Fetal Intestine Small	intestine
31	chr17:59448400-59454400	Weak transcription	Lung	lung
32	chr17:59448600-59458000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr17:59449600-59454600	Weak transcription	Primary T cells from cord blood	blood
34	chr17:59450200-59453400	Weak transcription	Fetal Muscle Leg	muscle
35	chr17:59451600-59467000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr17:59451800-59453000	Enhancers	Fetal Lung	lung
37	chr17:59452000-59453000	Enhancers	HepG2	liver
38	chr17:59452000-59454400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr17:59452200-59453800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:59452400-59452800	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr17:59452400-59454800	Weak transcription	Adipose Nuclei	Adipose
42	chr17:59452600-59454400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:59452600-59455600	Weak transcription	Fetal Kidney	kidney

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