Variant report

Variant	rs11185888
Chromosome Location	chr10:91573277-91573278
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10430645	0.88[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs10430646	0.89[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs1048057	0.87[CEU][hapmap]
rs10509579	0.88[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs1062465	0.88[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs10748527	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10785896	0.83[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs10785903	0.96[EUR][1000 genomes]
rs10785904	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10785905	0.99[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10785906	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10785907	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10881614	0.82[CEU][hapmap]
rs10881618	0.82[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs10881619	0.83[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs10881628	0.89[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs10881629	0.89[CEU][hapmap]
rs10881631	0.89[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs10881645	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs10881646	0.81[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap]
rs10881647	0.87[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap]
rs10881664	0.88[CEU][hapmap];0.86[CHB][hapmap];0.90[JPT][hapmap]
rs10881666	0.88[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs10881667	0.80[ASN][1000 genomes]
rs10881668	0.80[ASN][1000 genomes]
rs10881669	0.80[ASN][1000 genomes]
rs10881670	0.80[ASN][1000 genomes]
rs10881671	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10881673	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10881674	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10881675	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10881677	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10881678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10881679	0.87[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs10982	0.80[ASN][1000 genomes]
rs11185825	0.82[CEU][hapmap]
rs11185850	0.84[EUR][1000 genomes]
rs11185861	0.89[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs11185878	0.80[ASN][1000 genomes]
rs11185880	0.86[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs11185881	0.80[ASN][1000 genomes]
rs11185882	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11185884	0.81[EUR][1000 genomes]
rs11185886	0.81[EUR][1000 genomes]
rs11185887	0.99[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11185890	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11816741	0.83[CEU][hapmap]
rs12250365	0.88[CEU][hapmap]
rs12253793	0.80[ASN][1000 genomes]
rs12254296	0.80[ASN][1000 genomes]
rs12264026	0.80[ASN][1000 genomes]
rs12767644	0.83[CEU][hapmap]
rs12948	0.80[ASN][1000 genomes]
rs1324699	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1324700	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1409318	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1409319	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1409358	0.82[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs1555868	0.89[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs1886997	0.88[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs1998644	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1998645	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2026550	0.89[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs2077946	0.82[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap]
rs2182396	0.88[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs2419057	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2419085	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2900802	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2900813	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3740037	0.88[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs3758385	0.89[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs3824609	0.88[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs4126596	0.80[ASN][1000 genomes]
rs4274138	0.99[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4934498	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4934501	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4934502	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4934503	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55772495	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61872460	0.81[EUR][1000 genomes]
rs6586218	0.89[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7076259	0.82[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs7077349	0.89[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs7081362	0.89[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs7083066	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7085805	0.89[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7087240	0.83[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs7087738	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7087789	0.82[CEU][hapmap]
rs7088104	0.82[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7089473	0.89[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7092444	0.88[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs7095702	0.81[EUR][1000 genomes]
rs7095818	0.88[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs7096466	0.88[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs7097496	0.83[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7100603	0.82[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs7100756	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs716781	0.83[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap]
rs727427	0.83[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap]
rs735936	0.82[EUR][1000 genomes]
rs7894081	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7895379	0.88[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs7896461	0.80[ASN][1000 genomes]
rs7898670	0.88[CEU][hapmap];0.89[CHB][hapmap];0.90[JPT][hapmap]
rs7902875	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7907852	0.82[CEU][hapmap];0.87[CHB][hapmap];0.84[JPT][hapmap]
rs7909550	0.88[CEU][hapmap];0.89[CHB][hapmap]
rs7912464	0.83[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap]
rs7913109	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7919866	0.80[ASN][1000 genomes]
rs7921817	0.80[ASN][1000 genomes]
rs7924196	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8181361	0.87[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap]
rs8181406	0.88[CEU][hapmap]
rs913033	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9325443	0.82[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs9325444	0.83[CEU][hapmap]
rs962524	0.88[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs9663129	0.89[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs9665314	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046241	chr10:91478562-91614437	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv869080	chr10:91498641-91712834	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1036581	chr10:91526705-91691536	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1043571	chr10:91568555-92036154	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv551874	chr10:91570211-92036154	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11185888	RP11-248C1.3	cis	Artery Tibial	GTEx
rs11185888	LINC00865	cis	Artery Tibial	GTEx
rs11185888	LINC00865	cis	Nerve Tibial	GTEx
rs11185888	LINC00865	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91569000-91573400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr10:91569000-91573400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr10:91569000-91573400	Weak transcription	GM12878-XiMat	blood
4	chr10:91569000-91574200	Weak transcription	Fetal Muscle Leg	muscle
5	chr10:91572400-91573600	Enhancers	HepG2	liver
6	chr10:91573200-91573800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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