Variant report

Variant	rs17041531
Chromosome Location	chr12:105345512-105345513
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:105345480-105345630	RPTEC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:105343851..105348812-chr12:105350003..105354386,8	MCF-7	breast:
2	chr12:105345347..105347103-chr12:105350407..105353151,2	MCF-7	breast:
3	chr12:105344565..105347442-chr12:105349621..105353002,3	K562	blood:

Variant related genes	Relation type
SLC41A2	TF binding region
ENSG00000265054	TF binding region
ENSG00000136052	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10161522	0.94[EUR][1000 genomes]
rs10507186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10507187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10507188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11112218	1.00[CEU][hapmap]
rs11112276	0.94[EUR][1000 genomes]
rs11112277	0.94[EUR][1000 genomes]
rs11112279	0.94[EUR][1000 genomes]
rs11112283	0.89[EUR][1000 genomes]
rs11112303	0.86[EUR][1000 genomes]
rs11112307	0.88[EUR][1000 genomes]
rs11503466	0.88[EUR][1000 genomes]
rs12296144	0.91[EUR][1000 genomes]
rs12299385	0.88[EUR][1000 genomes]
rs12299936	0.94[EUR][1000 genomes]
rs12300005	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12301432	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12301850	1.00[CEU][hapmap]
rs12306191	0.94[EUR][1000 genomes]
rs12306443	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12306848	1.00[CEU][hapmap]
rs12308952	0.94[EUR][1000 genomes]
rs12309588	0.88[CHB][hapmap]
rs12310790	0.88[EUR][1000 genomes]
rs12313077	0.94[EUR][1000 genomes]
rs12314995	0.94[EUR][1000 genomes]
rs12315975	0.94[EUR][1000 genomes]
rs12315983	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12316001	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12319632	0.94[EUR][1000 genomes]
rs12320024	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12320195	0.94[EUR][1000 genomes]
rs12320880	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12321224	0.94[EUR][1000 genomes]
rs12321226	0.94[EUR][1000 genomes]
rs12321381	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs17036439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17036463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17036494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17036505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17036509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17036534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17036542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17036549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17036558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35879768	0.94[EUR][1000 genomes]
rs3812795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3816923	0.88[CHB][hapmap];1.00[YRI][hapmap]
rs3935722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4077312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4268581	0.94[EUR][1000 genomes]
rs4357778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4375513	1.00[CEU][hapmap]
rs4553438	1.00[CEU][hapmap]
rs58005679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58115870	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58447363	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58483223	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60057011	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60096703	0.96[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60310033	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60809012	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60956548	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61638859	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131977	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7299019	1.00[CEU][hapmap]
rs73387265	0.86[EUR][1000 genomes]
rs7970504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7971575	0.88[CHB][hapmap]
rs9738733	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105333200-105346200	Weak transcription	HepG2	liver
2	chr12:105338200-105349000	Weak transcription	Pancreas	Pancrea
3	chr12:105338200-105351000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:105338400-105346600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:105342600-105350600	Weak transcription	Adipose Nuclei	Adipose
6	chr12:105342800-105346000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:105342800-105346000	Weak transcription	Small Intestine	intestine
8	chr12:105344200-105346600	Enhancers	Liver	Liver
9	chr12:105345000-105346000	Enhancers	A549	lung
10	chr12:105345200-105346200	Enhancers	Osteobl	bone
11	chr12:105345200-105346400	Weak transcription	Stomach Mucosa	stomach
12	chr12:105345200-105346600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr12:105345200-105346600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr12:105345400-105346000	Enhancers	NH-A	brain
15	chr12:105345400-105346200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:105345400-105346600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:105345400-105347800	Enhancers	HUVEC	blood vessel

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