Variant report

Variant	rs9885531
Chromosome Location	chr5:52537228-52537229
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	chr5:52532240..52534104-chr5:52535420..52537788,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10035806	0.83[AFR][1000 genomes]
rs10035881	0.83[AFR][1000 genomes]
rs10037897	0.83[AFR][1000 genomes]
rs10038626	0.83[AFR][1000 genomes]
rs10039875	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10041228	0.83[AFR][1000 genomes]
rs10050450	0.83[AFR][1000 genomes]
rs10055517	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10056186	0.83[AFR][1000 genomes]
rs10062093	0.81[AFR][1000 genomes]
rs10062115	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10062285	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10062290	0.83[AFR][1000 genomes]
rs10063035	1.00[AMR][1000 genomes]
rs10067291	0.83[AFR][1000 genomes]
rs10070665	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10073579	0.83[AFR][1000 genomes]
rs10074035	1.00[AMR][1000 genomes]
rs10076569	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10076915	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10078306	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10078555	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10079017	0.83[AFR][1000 genomes]
rs10079884	0.83[AFR][1000 genomes]
rs10471374	0.83[AFR][1000 genomes]
rs10471375	0.83[AFR][1000 genomes]
rs10471376	0.83[AFR][1000 genomes]
rs10471841	0.83[AFR][1000 genomes]
rs10471846	0.83[AFR][1000 genomes]
rs10471847	0.83[AFR][1000 genomes]
rs10471848	0.83[AFR][1000 genomes]
rs10471861	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1579850	1.00[AMR][1000 genomes]
rs16881076	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16881107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16881109	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2161557	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28710068	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28832964	0.83[AFR][1000 genomes]
rs56722411	0.83[AFR][1000 genomes]
rs56879404	0.83[AFR][1000 genomes]
rs57640910	0.83[AFR][1000 genomes]
rs59717628	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv830297	chr5:52492494-52707758	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv515913	chr5:52492677-52545841	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv522454	chr5:52492677-52571758	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv880833	chr5:52502168-52544231	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52509600-52540000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:52530200-52540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:52534200-52540600	Weak transcription	HSMM	muscle
4	chr5:52535600-52539200	Weak transcription	HMEC	breast
5	chr5:52535600-52539800	Weak transcription	NHDF-Ad	bronchial
6	chr5:52535600-52540600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:52535600-52540600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:52535600-52540600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:52535600-52541200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:52535800-52540600	Weak transcription	NHEK	skin
11	chr5:52535800-52540600	Weak transcription	Osteobl	bone
12	chr5:52535800-52541200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:52536600-52540600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:52536600-52541400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:52536800-52539800	Weak transcription	NHLF	lung
16	chr5:52536800-52540600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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