Variant report

Variant	rs4767941
Chromosome Location	chr12:121359586-121359587
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	chr12:121358068..121359708-chr12:121361498..121363988,2	MCF-7	breast:
2	chr12:121358334..121360953-chr12:121366600..121368597,2	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10774572	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs10849791	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10849807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11065282	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11065283	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11065292	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11065300	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs11065307	0.84[ASN][1000 genomes]
rs11065311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11065324	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11065332	0.94[ASN][1000 genomes]
rs1151849	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1151859	0.87[ASN][1000 genomes]
rs1151862	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11611087	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1168944	0.88[ASN][1000 genomes]
rs1168946	0.88[ASN][1000 genomes]
rs1168948	0.88[ASN][1000 genomes]
rs1168953	0.88[ASN][1000 genomes]
rs1177585	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1179939	0.88[ASN][1000 genomes]
rs12371178	0.84[ASN][1000 genomes]
rs12372231	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12580949	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs12822123	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12831094	0.85[ASN][1000 genomes]
rs13746	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1542859	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1696357	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs1696390	0.94[ASN][1000 genomes]
rs1718188	0.96[ASN][1000 genomes]
rs2047568	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2393716	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2393717	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs2650017	0.88[ASN][1000 genomes]
rs2701177	0.96[ASN][1000 genomes]
rs2701184	0.98[ASN][1000 genomes]
rs3213566	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3213570	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3213572	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34009825	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35905305	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3809313	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3883901	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3897746	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3901854	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4454799	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs471688	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4766980	0.85[ASN][1000 genomes]
rs4767937	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs487943	0.83[ASN][1000 genomes]
rs508595	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs520753	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs531782	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs533264	0.84[ASN][1000 genomes]
rs548452	0.83[ASN][1000 genomes]
rs58918988	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs602984	0.83[ASN][1000 genomes]
rs609700	0.84[ASN][1000 genomes]
rs610694	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs61946382	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs61946383	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61946384	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61946385	0.98[ASN][1000 genomes]
rs61946386	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs624216	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs625228	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs647881	0.84[ASN][1000 genomes]
rs661647	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs665585	0.83[ASN][1000 genomes]
rs666976	0.81[ASN][1000 genomes]
rs7137504	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs73413868	0.85[ASN][1000 genomes]
rs73415720	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73415734	0.95[ASN][1000 genomes]
rs7967190	0.94[ASN][1000 genomes]
rs7969140	0.85[ASN][1000 genomes]
rs7980311	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs869781	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs904628	0.90[ASN][1000 genomes]
rs909053	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9431	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs989986	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv560448	chr12:121341477-121364324	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv560453	chr12:121342186-121364324	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv975534	chr12:121347729-121360386	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4767941	UNQ1887	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121343000-121362800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121359400-121359800	Enhancers	K562	blood

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