Variant report

Variant	rs9550516
Chromosome Location	chr13:30577446-30577447
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30577169..30579617-chr13:30592820..30595697,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1122693	0.88[ASN][1000 genomes]
rs12583495	0.86[ASN][1000 genomes]
rs12583653	0.87[ASN][1000 genomes]
rs12585990	0.87[ASN][1000 genomes]
rs17074235	0.93[ASN][1000 genomes]
rs2253939	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35969360	0.86[ASN][1000 genomes]
rs4769800	0.93[ASN][1000 genomes]
rs73159394	0.93[ASN][1000 genomes]
rs73159399	0.93[ASN][1000 genomes]
rs73159400	0.93[ASN][1000 genomes]
rs73161504	0.87[ASN][1000 genomes]
rs7999937	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8002871	0.84[ASN][1000 genomes]
rs9506249	0.84[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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr13:30569200-30578400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr13:30569200-30580000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:30574000-30578000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:30574400-30579400	Weak transcription	Spleen	Spleen
5	chr13:30576400-30577600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr13:30576600-30578000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:30576800-30578400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:30577000-30578400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:30577000-30578400	Weak transcription	NH-A	brain
10	chr13:30577000-30580600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:30577200-30578400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:30577200-30578400	Weak transcription	HSMM	muscle
13	chr13:30577200-30578400	Weak transcription	NHLF	lung
14	chr13:30577200-30578400	Weak transcription	Osteobl	bone
15	chr13:30577400-30577800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr13:30577400-30577800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr13:30577400-30577800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:30577400-30577800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:30577400-30577800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:30577400-30577800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr13:30577400-30577800	Weak transcription	HMEC	breast
22	chr13:30577400-30577800	Weak transcription	NHDF-Ad	bronchial
23	chr13:30577400-30577800	Weak transcription	NHEK	skin

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