Variant report

Variant	rs501697
Chromosome Location	chr11:59833123-59833124
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11230147	1.00[CHB][hapmap]
rs11230160	1.00[CHB][hapmap]
rs11230161	1.00[CHB][hapmap]
rs1125357	1.00[CHB][hapmap]
rs1151065	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1151103	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1151104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1151105	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11600716	1.00[CHB][hapmap]
rs11605427	1.00[CHB][hapmap]
rs12453	0.89[CHB][hapmap]
rs1286162	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1286169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1286170	0.88[ASW][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.88[LWK][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs1286171	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1286289	0.81[CEU][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1296390	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17528859	1.00[CHB][hapmap]
rs17529983	1.00[CHB][hapmap]
rs17602572	0.89[CHB][hapmap]
rs2070970	1.00[CHB][hapmap]
rs2278867	0.89[CHB][hapmap]
rs2583471	1.00[CHB][hapmap]
rs2583476	1.00[CHB][hapmap]
rs2847663	1.00[CHB][hapmap]
rs2847668	1.00[CHB][hapmap]
rs2855017	1.00[CHB][hapmap]
rs3016834	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3016835	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3016836	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs471457	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs474951	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939311	1.00[CHB][hapmap];0.86[CHD][hapmap]
rs4939312	0.81[CHB][hapmap]
rs501945	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs525828	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs528823	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536531	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs543695	0.88[ASW][hapmap];0.88[CEU][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.92[JPT][hapmap];0.88[LWK][hapmap];0.89[MEX][hapmap];0.86[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs549651	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs549680	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs554311	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs558678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs558788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs560238	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs564912	0.81[CHB][hapmap]
rs579721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7121429	0.94[ASN][1000 genomes]
rs7935829	0.89[CHB][hapmap]
rs920573	1.00[CHB][hapmap];0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832173	chr11:59788884-59940560	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv468579	chr11:59814287-59975400	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv555150	chr11:59814287-59975400	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs501697	MPEG1	cis	lymphoblastoid	seeQTL
rs501697	SCGB2A2	cis	cerebellum	SCAN
rs501697	POLR2G	cis	cerebellum	SCAN
rs501697	SYT7	cis	parietal	SCAN
rs501697	ZBTB3	cis	cerebellum	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59832200-59833200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:59832400-59833400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:59832400-59834200	Weak transcription	K562	blood
4	chr11:59832400-59836600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:59832400-59837800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr11:59832600-59836600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:59832600-59844800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr11:59833000-59836200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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