Variant report

Variant	rs11252824
Chromosome Location	chr10:4946315-4946316
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	chr10:4944889..4947267-chr10:4947876..4949644,2	MCF-7	breast:
2	chr10:4944287..4946415-chr10:4947566..4950260,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10430753	0.86[EUR][1000 genomes]
rs1078063	0.83[EUR][1000 genomes]
rs10904354	0.85[EUR][1000 genomes]
rs10904355	0.83[EUR][1000 genomes]
rs10904358	0.86[EUR][1000 genomes]
rs10904359	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10904360	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10904361	0.90[GIH][hapmap];0.86[MEX][hapmap]
rs10904362	0.88[CHD][hapmap]
rs10904367	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10904368	0.88[CEU][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11252793	0.86[EUR][1000 genomes]
rs11252798	0.89[EUR][1000 genomes]
rs11252799	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11252800	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11252801	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11252802	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11252803	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11252804	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs11252805	0.89[EUR][1000 genomes]
rs11252836	0.89[JPT][hapmap]
rs11252839	0.86[JPT][hapmap]
rs11813511	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11818004	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12249166	0.89[JPT][hapmap]
rs12251296	0.89[JPT][hapmap]
rs1869218	0.82[CEU][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs1869221	0.83[EUR][1000 genomes]
rs1901644	0.82[CEU][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.93[MEX][hapmap];0.80[TSI][hapmap];0.83[EUR][1000 genomes]
rs1993181	0.82[CEU][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs2123354	0.83[EUR][1000 genomes]
rs2167703	0.82[EUR][1000 genomes]
rs2397981	0.83[EUR][1000 genomes]
rs2397984	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs2924265	0.83[EUR][1000 genomes]
rs2924267	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs2961568	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs2961571	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs2961576	0.82[CEU][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs2961578	0.82[CEU][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs2961586	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs2961589	0.83[EUR][1000 genomes]
rs2961591	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs2961592	0.84[CHB][hapmap]
rs2961596	0.82[EUR][1000 genomes]
rs3110959	0.83[EUR][1000 genomes]
rs34413015	0.85[EUR][1000 genomes]
rs34835589	0.86[EUR][1000 genomes]
rs35710579	0.85[EUR][1000 genomes]
rs4242781	0.81[JPT][hapmap]
rs4447069	0.90[ASN][1000 genomes]
rs4478885	0.91[EUR][1000 genomes]
rs4509665	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4551663	0.86[EUR][1000 genomes]
rs4880692	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4880693	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4880694	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4880695	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4880696	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs4880697	0.89[EUR][1000 genomes]
rs4880698	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs4881367	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55708378	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55730798	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55744013	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55909699	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55963870	0.89[EUR][1000 genomes]
rs56015141	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56095721	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56259387	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7067785	0.82[CHD][hapmap];0.90[GIH][hapmap];0.93[MEX][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs7069610	0.86[EUR][1000 genomes]
rs7076588	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7086904	0.86[EUR][1000 genomes]
rs7089338	0.87[CEU][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7094041	0.89[JPT][hapmap]
rs7097854	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7358080	0.89[JPT][hapmap]
rs7894644	0.87[CEU][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7900145	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7900816	0.83[EUR][1000 genomes]
rs7910207	0.87[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7911527	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7919113	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7920935	0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466713	chr10:4901798-5319679	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv549881	chr10:4901798-5319679	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS 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 miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv1042940	chr10:4916614-4974581	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1050246	chr10:4927428-5211318	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv519977	chr10:4934211-4948921	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv894793	chr10:4935482-4988818	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv549882	chr10:4943518-5203864	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4918400-4968000	Weak transcription	Primary T cells from cord blood	blood
2	chr10:4943600-4946400	Enhancers	K562	blood
3	chr10:4944400-4955200	Weak transcription	Aorta	Aorta
4	chr10:4944800-4951800	Weak transcription	Fetal Stomach	stomach
5	chr10:4944800-4956400	Weak transcription	A549	lung
6	chr10:4945000-4954000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:4945200-4951400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:4945200-4953400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:4945200-4953600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr10:4945200-4954000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr10:4945200-4962200	Weak transcription	Ovary	ovary
12	chr10:4945400-4951400	Weak transcription	Adipose Nuclei	Adipose
13	chr10:4945800-4951400	Weak transcription	Right Ventricle	heart
14	chr10:4945800-4951600	Weak transcription	Left Ventricle	heart
15	chr10:4945800-4955600	Weak transcription	Liver	Liver
16	chr10:4946000-4973400	Weak transcription	Pancreas	Pancrea

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