Variant report

Variant	rs12317176
Chromosome Location	chr12:124404718-124404719
allele	C/T
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	STAT3	chr12:124404703-124404856	MCF10A-Er-Src	breast:	n/a	n/a
2	SPI1	chr12:124404441-124404789	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124402948..124405033-chr12:124413350..124415168,2	MCF-7	breast:

Variant related genes	Relation type
DNAH10	TF binding region

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1054852	0.81[CEU][hapmap];0.96[YRI][hapmap]
rs10846577	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs10846578	1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs10846579	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10846580	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11057393	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11057394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11057396	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11057397	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11057399	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11057400	0.87[EUR][1000 genomes]
rs11057401	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs11057407	0.86[EUR][1000 genomes]
rs11057408	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11057409	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11057412	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11057413	0.92[EUR][1000 genomes]
rs11831913	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs11833002	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11835839	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11837287	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs1187415	1.00[CEU][hapmap];0.86[YRI][hapmap];0.91[EUR][1000 genomes]
rs12296259	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12298484	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12301673	0.93[EUR][1000 genomes]
rs12303671	1.00[CEU][hapmap];0.97[YRI][hapmap];0.91[EUR][1000 genomes]
rs12303933	0.92[EUR][1000 genomes]
rs12309481	0.93[YRI][hapmap]
rs12310367	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12311114	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs12311848	0.91[EUR][1000 genomes]
rs12316080	0.94[EUR][1000 genomes]
rs12322694	0.84[JPT][hapmap]
rs12809125	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12809473	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs12823740	1.00[CEU][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12824567	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs12827409	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs12829951	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12833624	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1882491	0.84[EUR][1000 genomes]
rs2130382	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs2178663	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs3186071	0.87[EUR][1000 genomes]
rs34114498	0.93[EUR][1000 genomes]
rs34180676	0.86[EUR][1000 genomes]
rs34854841	0.86[EUR][1000 genomes]
rs34878139	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35099862	0.92[EUR][1000 genomes]
rs35825716	0.87[EUR][1000 genomes]
rs3789967	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3802999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4405410	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4575361	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4765127	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs4765148	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs4765219	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4765305	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4765335	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4765528	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs4765541	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4765562	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4930721	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4930722	0.86[EUR][1000 genomes]
rs4930723	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4930724	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4930725	0.94[EUR][1000 genomes]
rs4930726	1.00[CEU][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55990776	0.88[EUR][1000 genomes]
rs56041971	0.92[EUR][1000 genomes]
rs6488912	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6488913	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs6488914	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs7131882	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7132655	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs7133378	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7134121	0.92[EUR][1000 genomes]
rs7135314	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs71458830	0.91[EUR][1000 genomes]
rs7301953	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7305864	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7307053	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs7307277	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7311233	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs7311969	1.00[CEU][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7312404	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7955815	0.87[EUR][1000 genomes]
rs7958691	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7961449	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7966192	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7973683	1.00[CEU][hapmap];0.96[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7975482	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7978610	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs952632	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs9863	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9971695	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv1811815	chr12:124374716-124424636	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1832870	chr12:124374716-124424636	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv522321	chr12:124383950-124424636	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124384000-124408400	Weak transcription	Fetal Brain Female	brain
2	chr12:124393800-124418000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:124394200-124418400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:124397600-124404800	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:124400400-124417800	Weak transcription	Spleen	Spleen
6	chr12:124402800-124405800	Enhancers	Fetal Brain Male	brain
7	chr12:124404400-124405800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:124404600-124404800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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