Variant report

Variant	rs11208952
Chromosome Location	chr1:67225491-67225492
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67221443..67223945-chr1:67224724..67227311,3	K562	blood:
2	chr1:67216842..67220056-chr1:67223090..67226284,3	K562	blood:

Variant related genes	Relation type
ENSG00000152760	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10128053	0.83[CEU][hapmap]
rs10493416	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10493417	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10493418	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10493419	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10493420	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1060575	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11208911	0.90[CEU][hapmap]
rs11208953	0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11208954	1.00[CHB][hapmap];0.81[CHD][hapmap];0.84[JPT][hapmap];0.97[ASN][1000 genomes]
rs12063724	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12069946	0.83[CEU][hapmap]
rs12070270	0.82[CEU][hapmap]
rs12070460	0.84[ASN][1000 genomes]
rs12072937	0.83[CEU][hapmap]
rs12074963	0.83[CEU][hapmap]
rs12085282	0.82[CEU][hapmap]
rs12091471	0.83[CEU][hapmap]
rs12091475	0.81[CEU][hapmap]
rs12727390	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12727422	0.97[ASN][1000 genomes]
rs12733829	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13376692	0.85[CEU][hapmap]
rs1530491	0.83[CEU][hapmap]
rs17129101	0.83[CEU][hapmap]
rs17129226	0.88[CEU][hapmap]
rs17129244	0.88[CEU][hapmap]
rs17129245	0.88[CEU][hapmap]
rs17129252	0.87[CEU][hapmap]
rs17129269	0.88[CEU][hapmap]
rs17129307	0.88[CEU][hapmap]
rs17440390	0.88[CEU][hapmap]
rs17441669	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17442177	0.89[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.82[TSI][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17442361	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1812444	0.97[ASN][1000 genomes]
rs1909184	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs20354	0.87[CEU][hapmap]
rs2166307	0.83[CEU][hapmap]
rs2182110	0.88[CEU][hapmap]
rs2270702	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34089513	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36100970	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3816989	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3901541	0.88[CEU][hapmap]
rs41405244	0.83[CEU][hapmap]
rs41418445	0.83[CEU][hapmap]
rs41511845	0.83[CEU][hapmap]
rs56336376	0.97[ASN][1000 genomes]
rs6588210	0.88[CEU][hapmap]
rs6588211	0.87[CEU][hapmap]
rs6588212	0.88[CEU][hapmap]
rs6588213	0.88[CEU][hapmap]
rs6664698	0.83[CEU][hapmap]
rs6695554	0.97[ASN][1000 genomes]
rs6696874	0.97[ASN][1000 genomes]
rs6697073	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6699313	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68045184	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68063507	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7515248	1.00[CHB][hapmap];0.84[JPT][hapmap];0.97[ASN][1000 genomes]
rs7519784	1.00[CHB][hapmap];0.84[JPT][hapmap];0.93[ASN][1000 genomes]
rs7520353	0.83[CEU][hapmap]
rs7525761	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7535868	0.97[ASN][1000 genomes]
rs7536634	0.94[CEU][hapmap]
rs7538967	0.88[CEU][hapmap]
rs7540244	0.87[CEU][hapmap]
rs7543378	0.88[CEU][hapmap]
rs7545674	0.88[CEU][hapmap]
rs7545934	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs920986	0.82[CEU][hapmap]

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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv830093	chr1:67173594-67348264	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11208952	SGIP1	cis	parietal	SCAN
rs11208952	TCTEX1D1	cis	cerebellum	SCAN
rs11208952	TCTEX1D1	cis	parietal	SCAN
rs11208952	DLEU2L	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67219000-67227200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:67221200-67227400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:67221600-67236400	Weak transcription	Liver	Liver
4	chr1:67222800-67236200	Weak transcription	Psoas Muscle	Psoas
5	chr1:67224000-67227200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:67224400-67226200	Enhancers	K562	blood
7	chr1:67224400-67226200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr1:67224400-67228400	Weak transcription	Fetal Heart	heart
9	chr1:67224600-67225800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:67224600-67226200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:67224800-67226800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:67225400-67227400	Enhancers	Primary neutrophils fromperipheralblood	blood

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