Variant report

Variant	rs6042544
Chromosome Location	chr20:1465597-1465598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs13063	0.84[JPT][hapmap]
rs1883934	0.93[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs1884391	0.83[JPT][hapmap]
rs2143832	0.83[CHB][hapmap]
rs2422575	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3171292	0.84[JPT][hapmap]
rs3210915	0.84[JPT][hapmap]
rs4352285	0.84[JPT][hapmap]
rs4546067	0.84[JPT][hapmap]
rs4814244	0.84[JPT][hapmap]
rs6033867	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs6033901	0.88[CHB][hapmap]
rs6033949	0.81[ASN][1000 genomes]
rs6033950	0.83[CHB][hapmap]
rs6033951	0.94[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs6042244	0.84[JPT][hapmap]
rs6042292	0.84[JPT][hapmap]
rs6042354	0.84[JPT][hapmap]
rs6042592	0.88[CHB][hapmap];0.81[JPT][hapmap]
rs6042602	0.92[CHB][hapmap]
rs6042667	0.94[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6042675	0.94[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs6074680	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6074709	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs6074715	0.81[JPT][hapmap]
rs6079325	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs6079330	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs6079336	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs6079354	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs6079361	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs6110207	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs6110226	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs6135061	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs6135089	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs6135095	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs715218	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs910620	0.83[JPT][hapmap]
rs963867	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522008	chr20:1340390-1638578	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer 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 target site	28 gene(s)	inside rSNPs	diseases
3	esv1850632	chr20:1393861-1465597	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv833893	chr20:1414615-1527779	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6042544	SIRPB2	cis	Whole Blood	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1460800-1470200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr20:1462200-1469600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr20:1463600-1468200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr20:1463800-1466000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:1463800-1466000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr20:1464200-1466000	Enhancers	Hela-S3	cervix
7	chr20:1464200-1466200	Enhancers	HMEC	breast
8	chr20:1464200-1467600	Enhancers	NHEK	skin
9	chr20:1464400-1466200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr20:1464600-1465600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr20:1464600-1466000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr20:1464600-1466400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr20:1464800-1465800	Enhancers	Osteobl	bone
14	chr20:1464800-1466000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr20:1464800-1466000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr20:1464800-1466000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr20:1465200-1465600	Enhancers	HUVEC	blood vessel

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