Variant report

Variant	rs17125247
Chromosome Location	chr1:85760841-85760842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85740595..85746052-chr1:85759606..85765261,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223653	Chromatin interaction
ENSG00000142867	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11805576	1.00[AMR][1000 genomes]
rs17123230	1.00[AMR][1000 genomes]
rs2790912	1.00[AMR][1000 genomes]
rs709784	1.00[AMR][1000 genomes]
rs817402	1.00[AMR][1000 genomes]
rs817405	1.00[AMR][1000 genomes]
rs817408	1.00[AMR][1000 genomes]
rs817412	1.00[AMR][1000 genomes]
rs817442	1.00[AMR][1000 genomes]
rs817443	1.00[AMR][1000 genomes]
rs817444	1.00[AMR][1000 genomes]
rs817448	1.00[AMR][1000 genomes]
rs817450	1.00[AMR][1000 genomes]
rs817454	1.00[AMR][1000 genomes]
rs817455	1.00[AMR][1000 genomes]
rs817459	1.00[AMR][1000 genomes]
rs817460	1.00[AMR][1000 genomes]
rs817461	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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85742800-85763000	Weak transcription	Ovary	ovary
2	chr1:85743000-85773600	Weak transcription	Right Atrium	heart
3	chr1:85748600-85764000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:85750000-85761400	Weak transcription	Lung	lung
5	chr1:85750000-85762800	Weak transcription	Pancreas	Pancrea
6	chr1:85750400-85762800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:85750800-85763800	Weak transcription	Primary B cells from cord blood	blood
8	chr1:85752200-85762800	Weak transcription	Aorta	Aorta
9	chr1:85755800-85763200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:85756000-85762800	Enhancers	NHEK	skin
11	chr1:85756400-85762600	Weak transcription	Stomach Mucosa	stomach
12	chr1:85756600-85763200	Weak transcription	GM12878-XiMat	blood
13	chr1:85757000-85762800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:85757800-85762400	Weak transcription	HSMM	muscle
15	chr1:85757800-85762600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:85758400-85761000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:85758600-85763000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:85759000-85763000	Enhancers	HMEC	breast
19	chr1:85759200-85763400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:85759400-85761200	Weak transcription	Spleen	Spleen
21	chr1:85759600-85765200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:85759800-85763200	Enhancers	NHLF	lung
23	chr1:85759800-85763400	Enhancers	HUVEC	blood vessel
24	chr1:85760000-85761600	Enhancers	NH-A	brain
25	chr1:85760200-85761400	Weak transcription	Esophagus	oesophagus
26	chr1:85760400-85763000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:85760600-85761200	Enhancers	Osteobl	bone
28	chr1:85760600-85761400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:85760600-85761400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:85760600-85761400	Enhancers	Fetal Lung	lung
31	chr1:85760600-85761800	Enhancers	Fetal Stomach	stomach
32	chr1:85760600-85762800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:85760800-85761000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:85760800-85761000	Enhancers	HSMMtube	muscle
35	chr1:85760800-85761400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:85760800-85761600	Enhancers	Right Ventricle	heart
37	chr1:85760800-85761600	Enhancers	NHDF-Ad	bronchial
38	chr1:85760800-85761800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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