Variant report

Variant	rs12553685
Chromosome Location	chr9:102194272-102194273
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102189382..102190948-chr9:102193219..102195799,2	K562	blood:
2	chr9:102183276..102185319-chr9:102193925..102196644,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12553249	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1373131	0.81[ASN][1000 genomes]
rs16918616	0.80[ASN][1000 genomes]
rs17795913	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2900171	0.80[ASN][1000 genomes]
rs57550843	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57713933	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs617164	0.81[ASN][1000 genomes]
rs623874	0.81[ASN][1000 genomes]
rs634202	0.81[ASN][1000 genomes]
rs638261	0.81[ASN][1000 genomes]
rs649057	0.81[ASN][1000 genomes]
rs666399	0.81[ASN][1000 genomes]
rs7863995	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893620	chr9:102029791-102194921	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv831667	chr9:102068047-102285691	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102192200-102197600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:102192800-102194600	Enhancers	HUVEC	blood vessel
3	chr9:102192800-102195600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:102192800-102195800	Weak transcription	Lung	lung
5	chr9:102193000-102194400	Enhancers	NHLF	lung
6	chr9:102193200-102195400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:102193200-102195400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:102193200-102195600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr9:102193200-102195600	Weak transcription	Spleen	Spleen
10	chr9:102193200-102195800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:102193400-102195400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr9:102193400-102197800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:102193600-102194600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:102193600-102195800	Weak transcription	Osteobl	bone
15	chr9:102193800-102194400	Enhancers	Fetal Heart	heart
16	chr9:102194000-102195600	Weak transcription	NH-A	brain
17	chr9:102194000-102195600	Weak transcription	NHEK	skin
18	chr9:102194200-102194400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:102194200-102195400	Weak transcription	NHDF-Ad	bronchial
20	chr9:102194200-102199800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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