Variant report

Variant	rs11687608
Chromosome Location	chr2:47091341-47091342
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47090235..47092918-chr2:47097599..47101021,3	MCF-7	breast:
2	chr2:47090932..47093408-chr2:47096445..47099891,3	K562	blood:
3	chr2:47090932..47093573-chr2:47096507..47098413,2	K562	blood:
4	chr2:47069595..47073036-chr2:47089571..47092163,3	MCF-7	breast:
5	chr2:47088613..47092145-chr2:47092514..47095025,5	K562	blood:
6	chr2:47091177..47094224-chr2:47098051..47100562,3	MCF-7	breast:
7	chr2:47086468..47088123-chr2:47090106..47091660,2	K562	blood:

Variant related genes	Relation type
ENSG00000239332	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10171029	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11125099	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11676288	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11687528	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11691225	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12990097	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13003608	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13405966	0.84[EUR][1000 genomes]
rs35076028	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8622	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv979000	chr2:47088519-47093944	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47080800-47103600	Enhancers	Placenta	Placenta
2	chr2:47084000-47093200	Weak transcription	Ovary	ovary
3	chr2:47084000-47093600	Weak transcription	Right Atrium	heart
4	chr2:47087600-47091600	Enhancers	Fetal Lung	lung
5	chr2:47087800-47097400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:47088400-47091400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:47088600-47092000	Enhancers	Fetal Muscle Leg	muscle
8	chr2:47088800-47091400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:47089200-47092000	Weak transcription	Colonic Mucosa	Colon
10	chr2:47089200-47096800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:47089400-47091800	Enhancers	Fetal Stomach	stomach
12	chr2:47089800-47092800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:47090000-47096200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:47090200-47091600	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:47090200-47093000	Weak transcription	Left Ventricle	heart
16	chr2:47090200-47093800	Weak transcription	Right Ventricle	heart
17	chr2:47090200-47093800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:47090800-47091400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:47090800-47091600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:47091000-47091400	Enhancers	Fetal Kidney	kidney
21	chr2:47091200-47091400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:47091200-47092000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:47091200-47093400	ZNF genes & repeats	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links