Variant report

Variant	rs17282929
Chromosome Location	chr2:172041260-172041261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172028540..172030907-chr2:172040306..172041978,2	K562	blood:
2	chr2:172037922..172040353-chr2:172040710..172043498,2	MCF-7	breast:
3	chr2:172037115..172039035-chr2:172040563..172042289,2	K562	blood:

Extended variants
information (count: 135 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10167878	0.89[AFR][1000 genomes]
rs10177560	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs10182205	0.96[ASN][1000 genomes]
rs10182207	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10183486	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10189480	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs10191270	1.00[CHB][hapmap]
rs10193992	0.96[ASN][1000 genomes]
rs10197081	0.96[ASN][1000 genomes]
rs10198197	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10199500	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10206289	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10207361	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10208271	0.81[ASN][1000 genomes]
rs10208341	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10210693	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10210791	0.81[ASN][1000 genomes]
rs10210883	1.00[CHB][hapmap]
rs1025240	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1025241	0.81[ASN][1000 genomes]
rs1025242	0.81[ASN][1000 genomes]
rs1035825	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1035826	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1035828	1.00[CHB][hapmap]
rs1045327	1.00[CHB][hapmap]
rs10930453	1.00[CHB][hapmap]
rs10930455	1.00[CHB][hapmap]
rs10930456	1.00[CHB][hapmap]
rs10930457	1.00[CHB][hapmap]
rs11553951	0.90[ASN][1000 genomes]
rs12692962	1.00[CHB][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12997252	1.00[CHB][hapmap]
rs12998296	1.00[CHB][hapmap]
rs13002517	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs13003218	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs13004273	1.00[CHB][hapmap]
rs13006705	0.82[ASN][1000 genomes]
rs13007415	0.90[ASN][1000 genomes]
rs13008199	1.00[CHB][hapmap]
rs13010307	1.00[CHB][hapmap]
rs13016705	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs13026444	0.90[ASN][1000 genomes]
rs13030784	1.00[CHB][hapmap]
rs13034529	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13036123	1.00[CHB][hapmap]
rs13395669	0.81[ASN][1000 genomes]
rs13401706	0.81[ASN][1000 genomes]
rs13402107	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13403285	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13411575	1.00[CHB][hapmap]
rs13417709	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13417864	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13419444	0.81[ASN][1000 genomes]
rs13420171	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13425247	1.00[CHB][hapmap]
rs13427723	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13428613	0.81[ASN][1000 genomes]
rs13432325	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13432813	0.81[ASN][1000 genomes]
rs1344236	0.93[ASN][1000 genomes]
rs1344237	1.00[CHB][hapmap]
rs1529378	1.00[CHB][hapmap]
rs1991370	1.00[CHB][hapmap]
rs2033160	1.00[CHB][hapmap]
rs2052808	1.00[CHB][hapmap]
rs2081715	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2114596	0.81[ASN][1000 genomes]
rs218308	0.84[ASN][1000 genomes]
rs218310	0.81[ASN][1000 genomes]
rs2195072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2217154	0.81[ASN][1000 genomes]
rs2356607	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs2356608	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2555922	1.00[CHB][hapmap]
rs2557794	1.00[CHB][hapmap]
rs2676131	1.00[CHB][hapmap]
rs2676151	1.00[CHB][hapmap]
rs2723241	1.00[CHB][hapmap]
rs2723242	0.90[ASN][1000 genomes]
rs28740798	0.93[ASN][1000 genomes]
rs34143031	0.87[ASN][1000 genomes]
rs34303929	0.90[ASN][1000 genomes]
rs34453397	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34563349	0.81[ASN][1000 genomes]
rs34622740	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34960296	0.90[ASN][1000 genomes]
rs35047553	0.81[ASN][1000 genomes]
rs35112379	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35173138	0.81[ASN][1000 genomes]
rs35312173	0.81[ASN][1000 genomes]
rs35332006	0.90[ASN][1000 genomes]
rs35381957	0.90[ASN][1000 genomes]
rs35988467	0.81[ASN][1000 genomes]
rs3755121	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs3770423	1.00[CHB][hapmap]
rs3770428	1.00[CHB][hapmap]
rs3770433	1.00[CHB][hapmap]
rs4564745	1.00[CHB][hapmap]
rs4668368	1.00[CHB][hapmap]
rs5028603	1.00[CHB][hapmap]
rs55758155	0.81[ASN][1000 genomes]
rs55987132	0.81[ASN][1000 genomes]
rs56405950	0.81[ASN][1000 genomes]
rs57236236	0.90[ASN][1000 genomes]
rs6433276	1.00[CHB][hapmap]
rs6710035	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs6714164	1.00[CHB][hapmap]
rs6716127	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs6730417	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs6733178	1.00[CHB][hapmap]
rs6754315	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs6757510	0.90[ASN][1000 genomes]
rs6758331	1.00[CHB][hapmap]
rs6761642	1.00[CHB][hapmap]
rs6761759	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs6761889	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs719548	1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72886381	0.90[ASN][1000 genomes]
rs73013441	0.93[ASN][1000 genomes]
rs7568083	0.93[ASN][1000 genomes]
rs7579424	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs7580629	1.00[CHB][hapmap]
rs7581195	0.81[ASN][1000 genomes]
rs7585619	0.93[ASN][1000 genomes]
rs7587244	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs7593186	0.90[ASN][1000 genomes]
rs7593193	1.00[CHB][hapmap]
rs7594177	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7603316	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7603460	0.81[ASN][1000 genomes]
rs7603858	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606502	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7606822	1.00[CHB][hapmap]
rs9646785	1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522291	chr2:172034918-172043803	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17282929	TLK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172037200-172041800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:172038400-172041800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:172038400-172042000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:172038600-172041600	Weak transcription	NHDF-Ad	bronchial
5	chr2:172038600-172041800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:172038800-172041800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:172038800-172042200	Weak transcription	NHEK	skin
8	chr2:172039000-172042000	Weak transcription	K562	blood
9	chr2:172040600-172042000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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