Variant report

Variant	rs10018373
Chromosome Location	chr4:75116863-75116864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:75116462..75118101-chr4:75154963..75157104,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10009707	0.84[EUR][1000 genomes]
rs10010575	0.84[TSI][hapmap]
rs10013212	0.91[EUR][1000 genomes]
rs10017409	0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs10017417	0.92[EUR][1000 genomes]
rs10019396	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs10023519	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10026687	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10028285	0.81[EUR][1000 genomes]
rs1037824	0.85[EUR][1000 genomes]
rs10433673	0.86[EUR][1000 genomes]
rs10938112	0.90[EUR][1000 genomes]
rs11724468	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs11731340	0.81[EUR][1000 genomes]
rs11737662	0.95[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs11942725	0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11945418	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1246575	0.95[CEU][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs1246577	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs1246578	0.95[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs1246579	0.90[EUR][1000 genomes]
rs1246580	0.89[EUR][1000 genomes]
rs1246582	0.92[EUR][1000 genomes]
rs1246584	0.92[EUR][1000 genomes]
rs1246586	0.92[EUR][1000 genomes]
rs1246587	0.92[EUR][1000 genomes]
rs1246588	0.95[CEU][hapmap];0.92[EUR][1000 genomes]
rs1246590	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs1246591	0.85[CEU][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs1246594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1246597	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs12500697	0.89[EUR][1000 genomes]
rs1265327	0.95[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs13116896	0.86[EUR][1000 genomes]
rs13142241	0.83[EUR][1000 genomes]
rs1371796	0.82[EUR][1000 genomes]
rs1380561	0.95[CEU][hapmap];0.97[EUR][1000 genomes]
rs1460016	0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs1460017	0.89[EUR][1000 genomes]
rs16850862	0.82[EUR][1000 genomes]
rs16850883	0.85[EUR][1000 genomes]
rs16850941	0.83[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs17232394	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17829765	0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs1964526	0.86[EUR][1000 genomes]
rs2045616	0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs2045617	0.85[EUR][1000 genomes]
rs2045618	0.83[EUR][1000 genomes]
rs2061508	0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs2367555	0.90[EUR][1000 genomes]
rs2367745	0.80[CEU][hapmap];0.88[EUR][1000 genomes]
rs28378517	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28436705	0.91[EUR][1000 genomes]
rs28539097	0.84[EUR][1000 genomes]
rs28592249	0.81[EUR][1000 genomes]
rs28644493	0.84[EUR][1000 genomes]
rs28695994	0.86[EUR][1000 genomes]
rs4371587	0.85[EUR][1000 genomes]
rs4502653	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4577545	0.80[EUR][1000 genomes]
rs4694184	0.84[EUR][1000 genomes]
rs488440	0.95[CEU][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs62312513	0.92[EUR][1000 genomes]
rs62312515	0.97[EUR][1000 genomes]
rs62312545	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6446983	0.83[EUR][1000 genomes]
rs6446984	0.86[TSI][hapmap];0.83[EUR][1000 genomes]
rs6446985	0.83[EUR][1000 genomes]
rs6811214	0.84[EUR][1000 genomes]
rs6814880	0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs6819605	0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs6820992	0.85[EUR][1000 genomes]
rs6821664	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6835734	0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs6854203	0.96[EUR][1000 genomes]
rs6854723	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6858809	0.88[EUR][1000 genomes]
rs7659389	0.84[EUR][1000 genomes]
rs7663269	0.84[TSI][hapmap]
rs7665105	0.84[EUR][1000 genomes]
rs7670535	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7672588	0.84[EUR][1000 genomes]
rs7680463	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs7681137	0.82[TSI][hapmap]
rs7681912	0.81[CEU][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs7683181	0.84[EUR][1000 genomes]
rs9684145	0.90[MKK][hapmap]
rs9992393	0.97[EUR][1000 genomes]
rs9997322	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9997788	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1013260	chr4:75013441-75121643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1004706	chr4:75014770-75121643	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10018373	ANKRD56	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75086200-75117600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr4:75093000-75117400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:75097400-75117400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:75101400-75117600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:75113800-75117600	Weak transcription	Liver	Liver
6	chr4:75114800-75119200	Weak transcription	Pancreas	Pancrea
7	chr4:75115200-75117800	Weak transcription	A549	lung
8	chr4:75115800-75120000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:75116200-75117600	Weak transcription	Adipose Nuclei	Adipose
10	chr4:75116200-75118200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:75116400-75117600	Strong transcription	NHEK	skin
12	chr4:75116400-75120000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
13	chr4:75116600-75117400	Weak transcription	Ovary	ovary

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