Variant report

Variant	rs2251801
Chromosome Location	chr20:1504992-1504993
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1503830..1506372-chr20:1510373..1512056,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1121670	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1121671	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1121672	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11697985	0.81[CHB][hapmap]
rs12480515	0.81[CHB][hapmap]
rs2243423	0.81[CHB][hapmap]
rs2243603	0.81[CHB][hapmap]
rs2246154	0.86[CHB][hapmap]
rs2249317	0.86[CHB][hapmap]
rs2250199	0.86[CHB][hapmap]
rs2251811	0.89[ASN][1000 genomes]
rs2252155	0.83[ASN][1000 genomes]
rs2253427	0.81[CHB][hapmap]
rs2254194	0.81[CHB][hapmap]
rs2254448	0.81[CHB][hapmap]
rs2256520	0.86[CHB][hapmap]
rs2262338	0.83[ASN][1000 genomes]
rs2263664	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[MEX][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2422576	0.92[ASN][1000 genomes]
rs2422577	0.96[ASN][1000 genomes]
rs2422578	0.92[ASN][1000 genomes]
rs2422579	0.92[ASN][1000 genomes]
rs2422580	0.91[ASN][1000 genomes]
rs2422582	0.98[ASN][1000 genomes]
rs2422584	0.98[ASN][1000 genomes]
rs2422585	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2422586	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2422587	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2422588	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2422592	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2422593	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2422594	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2422595	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2422597	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2422599	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2422600	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2422601	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2422602	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2422603	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2422604	0.99[ASN][1000 genomes]
rs2422605	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2422606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2422607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2422608	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2422610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2422611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2422615	0.81[CHB][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2422631	0.81[CHB][hapmap]
rs2746609	0.81[CHB][hapmap]
rs3848784	0.92[CHB][hapmap]
rs3848786	0.81[CHB][hapmap]
rs3848787	0.81[CHB][hapmap]
rs4476414	0.95[ASN][1000 genomes]
rs4813157	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4813158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6034006	0.86[CHB][hapmap]
rs6034039	0.81[CHB][hapmap]
rs6042710	0.92[ASN][1000 genomes]
rs6042711	0.91[ASN][1000 genomes]
rs6079527	0.81[CHB][hapmap]
rs6105334	0.81[CHB][hapmap]
rs6110353	0.81[CHB][hapmap]
rs6135158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs761450	0.92[ASN][1000 genomes]
rs761451	0.98[ASN][1000 genomes]
rs975409	0.98[ASN][1000 genomes]
rs975410	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
4	esv2758509	chr20:1476781-1679256	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv2758777	chr20:1476781-1679256	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv428374	chr20:1476781-1679256	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv912596	chr20:1486637-1877150	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv1057036	chr20:1493425-1869281	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv912597	chr20:1500506-1877150	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2251801	SIRPB1	cis	Whole Blood	GTEx
rs2251801	SIRPB1	cis	Nerve Tibial	GTEx
rs2251801	QTRT1	trans	cerebellum	SCAN
rs2251801	SIRPB1	cis	multi-tissue	Pritchard
rs2251801	C20orf141	cis	parietal	SCAN
rs2251801	STK35	cis	parietal	SCAN
rs2251801	SCRT2	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1502400-1505800	Weak transcription	Spleen	Spleen
2	chr20:1503400-1506200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr20:1503600-1506200	Enhancers	Primary hematopoietic stem cells	blood
4	chr20:1503600-1506200	Enhancers	Dnd41	blood
5	chr20:1504000-1506000	Enhancers	Primary B cells from cord blood	blood
6	chr20:1504400-1505000	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr20:1504400-1505000	Flanking Active TSS	GM12878-XiMat	blood
8	chr20:1504400-1505200	Enhancers	Primary B cells from peripheral blood	blood
9	chr20:1504400-1506200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr20:1504600-1505800	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr20:1504800-1505000	Bivalent Enhancer	Fetal Brain Male	brain
12	chr20:1504800-1505000	Enhancers	Pancreas	Pancrea
13	chr20:1504800-1505200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr20:1504800-1505200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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