Variant report

Variant	rs12096717
Chromosome Location	chr1:174819336-174819337
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	chr1:174818265..174820720-chr1:174969337..174970845,2	K562	blood:

Variant related genes	Relation type
ENSG00000116161	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10912815	1.00[EUR][1000 genomes]
rs10912816	1.00[EUR][1000 genomes]
rs10912818	1.00[EUR][1000 genomes]
rs10912819	1.00[EUR][1000 genomes]
rs10912847	1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912851	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10912858	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10912864	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11806870	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12057161	1.00[EUR][1000 genomes]
rs12057359	1.00[EUR][1000 genomes]
rs12066268	1.00[EUR][1000 genomes]
rs12066421	1.00[EUR][1000 genomes]
rs12067791	1.00[EUR][1000 genomes]
rs12068625	1.00[EUR][1000 genomes]
rs12069689	1.00[EUR][1000 genomes]
rs12070082	1.00[EUR][1000 genomes]
rs12072909	1.00[EUR][1000 genomes]
rs12075193	1.00[EUR][1000 genomes]
rs12077283	1.00[EUR][1000 genomes]
rs12080070	1.00[EUR][1000 genomes]
rs12084999	1.00[EUR][1000 genomes]
rs12088650	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12095683	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1231828	1.00[EUR][1000 genomes]
rs1329280	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1612104	1.00[EUR][1000 genomes]
rs1618234	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1653631	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1653633	1.00[EUR][1000 genomes]
rs1653637	1.00[EUR][1000 genomes]
rs16847457	1.00[EUR][1000 genomes]
rs173000	1.00[EUR][1000 genomes]
rs1754356	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs189141	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2116515	1.00[EUR][1000 genomes]
rs2760059	1.00[EUR][1000 genomes]
rs2901862	0.83[AMR][1000 genomes]
rs2981891	1.00[EUR][1000 genomes]
rs2981895	1.00[EUR][1000 genomes]
rs2987871	1.00[EUR][1000 genomes]
rs2987878	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3123641	1.00[EUR][1000 genomes]
rs332766	1.00[EUR][1000 genomes]
rs332775	1.00[EUR][1000 genomes]
rs332780	1.00[EUR][1000 genomes]
rs332785	1.00[EUR][1000 genomes]
rs332790	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs332792	1.00[EUR][1000 genomes]
rs333419	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs333425	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs333434	1.00[EUR][1000 genomes]
rs392368	1.00[EUR][1000 genomes]
rs4290116	1.00[EUR][1000 genomes]
rs4309037	1.00[EUR][1000 genomes]
rs56106555	1.00[EUR][1000 genomes]
rs58238388	1.00[EUR][1000 genomes]
rs59073370	1.00[EUR][1000 genomes]
rs60283543	1.00[EUR][1000 genomes]
rs6672781	1.00[EUR][1000 genomes]
rs6696432	1.00[EUR][1000 genomes]
rs74126851	1.00[EUR][1000 genomes]
rs74126855	1.00[EUR][1000 genomes]
rs74128516	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv872556	chr1:174794420-174819336	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv872557	chr1:174800121-174819336	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv872559	chr1:174803606-174819336	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv946510	chr1:174811249-174819547	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174796600-174833400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:174818200-174828000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:174818600-174819400	ZNF genes & repeats	A549	lung
4	chr1:174818800-174819400	Enhancers	NHEK	skin
5	chr1:174818800-174820000	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr1:174819000-174819400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:174819000-174819400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:174819200-174819600	Enhancers	Left Ventricle	heart
9	chr1:174819200-174824400	Weak transcription	Aorta	Aorta
10	chr1:174819200-174843600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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