Variant report

Variant	rs10891549
Chromosome Location	chr11:113278447-113278448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:113277794..113280579-chr11:113282730..113285609,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRD2-4	chr11:113276482-113278538	NONHSAT024247

Extended variants
information (count: 61 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1076563	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.97[ASN][1000 genomes]
rs1078	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10789942	0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.84[ASN][1000 genomes]
rs10891540	0.88[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.84[ASN][1000 genomes]
rs10891544	0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10891547	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10891548	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107162	1.00[CHB][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];1.00[ASN][1000 genomes]
rs1116313	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.97[ASN][1000 genomes]
rs11214587	1.00[JPT][hapmap]
rs11214594	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11214595	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11214596	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11214603	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11214605	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11214608	0.88[ASN][1000 genomes]
rs11214609	0.88[ASN][1000 genomes]
rs11604671	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608109	0.97[ASN][1000 genomes]
rs11608185	1.00[ASN][1000 genomes]
rs12360992	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12363125	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs12364051	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.88[ASN][1000 genomes]
rs12798900	0.97[ASN][1000 genomes]
rs12800853	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12808482	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1554929	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17529477	1.00[JPT][hapmap]
rs17600713	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1800498	1.00[ASN][1000 genomes]
rs2155463	0.84[ASN][1000 genomes]
rs2186799	1.00[JPT][hapmap]
rs2234690	1.00[ASN][1000 genomes]
rs2587548	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2734831	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs2734832	1.00[ASN][1000 genomes]
rs2734833	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2734835	1.00[ASN][1000 genomes]
rs2734837	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2734838	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs2734839	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2734849	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34601878	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35023999	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4412783	0.91[LWK][hapmap]
rs4438071	1.00[JPT][hapmap]
rs4587762	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4938017	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6276	0.91[YRI][hapmap]
rs6277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107223	0.97[GIH][hapmap];0.82[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs7116782	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7122246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs7131440	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.97[ASN][1000 genomes]
rs7131465	0.97[ASN][1000 genomes]
rs7131627	0.97[ASN][1000 genomes]
rs7131681	0.88[ASN][1000 genomes]
rs754672	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs877137	0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv556444	chr11:113234432-113383394	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1040152	chr11:113258065-113285916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs10891549	TTC12	cis	parietal	SCAN
rs10891549	TTC12	cis	Muscle Skeletal	GTEx
rs10891549	TTC12	cis	uninvolved skin	skin_eQTL
rs10891549	TTC12	cis	Esophagus Muscularis	GTEx
rs10891549	TTC12	cis	Heart Left Ventricle	GTEx
rs10891549	TIMM8B	cis	cerebellum	SCAN
rs10891549	TTC12	cis	lung	GTEx
rs10891549	TTC12	cis	Thyroid	GTEx
rs10891549	TTC12	cis	lesional skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:113258800-113287400	Weak transcription	Gastric	stomach
2	chr11:113274600-113278600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr11:113277000-113279400	Weak transcription	Esophagus	oesophagus
4	chr11:113277200-113278800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:113277800-113278600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:113278200-113279000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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