Variant report

Variant	rs7219765
Chromosome Location	chr17:59442615-59442616
allele	C/T
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	chr17:59442576..59445389-chr6:40171925..40174625,2	MCF-7	breast:
3	chr17:59406940..59447393-chr20:49402944..49426846,176	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124243	Chromatin interaction

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

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

rs_ID	r²[population]
rs16945213	1.00[EUR][1000 genomes]
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]
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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59388800-59444200	Weak transcription	Primary T cells from cord blood	blood
2	chr17:59416200-59444800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr17:59427600-59444000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr17:59427800-59450000	Weak transcription	Ovary	ovary
5	chr17:59429400-59446000	Weak transcription	Fetal Intestine Small	intestine
6	chr17:59431200-59446200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:59431200-59446200	Weak transcription	Lung	lung
8	chr17:59431600-59443800	Weak transcription	Spleen	Spleen
9	chr17:59431600-59445600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr17:59434000-59455400	Weak transcription	Aorta	Aorta
11	chr17:59438200-59445600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr17:59438200-59470800	Weak transcription	Esophagus	oesophagus
13	chr17:59438600-59443600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:59439200-59443800	Weak transcription	NHDF-Ad	bronchial
15	chr17:59439200-59444200	Weak transcription	NHLF	lung
16	chr17:59439200-59454400	Weak transcription	Hela-S3	cervix
17	chr17:59439400-59446400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr17:59439800-59444000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:59440000-59443200	Weak transcription	Right Atrium	heart
20	chr17:59440200-59448200	Weak transcription	Fetal Brain Female	brain
21	chr17:59440200-59462800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:59440800-59452000	Weak transcription	Fetal Kidney	kidney
23	chr17:59441200-59443600	Weak transcription	Adipose Nuclei	Adipose
24	chr17:59441200-59443800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:59441600-59443600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:59441600-59444000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr17:59441600-59445600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:59441600-59445600	Weak transcription	Pancreas	Pancrea
29	chr17:59441600-59446000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr17:59441600-59462200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:59442000-59444000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:59442600-59443200	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links