Variant report

Variant	rs11252839
Chromosome Location	chr10:4973943-4973944
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	chr10:4973639..4975791-chr10:5115008..5116577,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10159511	0.96[CEU][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10904362	0.85[JPT][hapmap]
rs10904367	0.85[JPT][hapmap]
rs10904368	0.85[JPT][hapmap]
rs11252804	0.85[JPT][hapmap]
rs11252805	0.85[JPT][hapmap]
rs11252824	0.86[JPT][hapmap]
rs11252833	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11252836	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12245048	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12249166	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12251296	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12253332	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12255269	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs12258506	0.81[EUR][1000 genomes]
rs12258513	0.82[EUR][1000 genomes]
rs12261928	0.81[EUR][1000 genomes]
rs12264320	0.90[EUR][1000 genomes]
rs1869218	0.85[JPT][hapmap]
rs1901644	0.85[JPT][hapmap]
rs1993181	0.85[JPT][hapmap]
rs2167703	0.85[JPT][hapmap]
rs2397984	0.85[JPT][hapmap]
rs2924265	0.85[JPT][hapmap]
rs2924267	0.85[JPT][hapmap]
rs2961568	0.85[JPT][hapmap]
rs2961571	0.85[JPT][hapmap]
rs2961576	0.85[JPT][hapmap]
rs2961578	0.85[JPT][hapmap]
rs2961586	0.85[JPT][hapmap]
rs2961591	0.85[JPT][hapmap]
rs4277002	0.81[EUR][1000 genomes]
rs4451618	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4880693	0.85[JPT][hapmap]
rs4880696	0.85[JPT][hapmap]
rs4880698	0.82[JPT][hapmap]
rs4881367	0.85[JPT][hapmap]
rs6601873	0.84[CEU][hapmap]
rs67865366	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7067785	0.85[JPT][hapmap]
rs7068494	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7081411	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs7089338	0.85[JPT][hapmap]
rs7089950	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7094041	0.83[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7098390	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs72769959	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72769961	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7358055	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs7358080	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7894644	0.85[JPT][hapmap]
rs7896709	0.81[EUR][1000 genomes]
rs7900816	0.82[JPT][hapmap]
rs7910207	0.82[JPT][hapmap]
rs7920935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7921097	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
13	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
14	esv2763913	chr10:4961021-5321407	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv894794	chr10:4972761-5121745	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4967800-4983800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr10:4968600-4981200	Weak transcription	A549	lung
3	chr10:4968600-4990800	Weak transcription	Primary T cells from cord blood	blood
4	chr10:4969800-4983600	Weak transcription	Adipose Nuclei	Adipose
5	chr10:4971600-4977000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:4972400-4977800	Enhancers	Stomach Mucosa	stomach
7	chr10:4973000-4984800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr10:4973000-5005600	Weak transcription	Left Ventricle	heart
9	chr10:4973200-4975200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr10:4973200-4983800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr10:4973200-4994800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr10:4973400-4974600	Enhancers	Pancreas	Pancrea
13	chr10:4973600-4974000	Enhancers	Gastric	stomach
14	chr10:4973600-4974200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:4973600-4974200	Enhancers	Ovary	ovary
16	chr10:4973600-4974800	Enhancers	Liver	Liver
17	chr10:4973800-4974000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:4973800-4974000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:4973800-4974000	Weak transcription	Psoas Muscle	Psoas
20	chr10:4973800-4974000	Enhancers	Right Ventricle	heart
21	chr10:4973800-4974200	Enhancers	Esophagus	oesophagus
22	chr10:4973800-4974600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr10:4973800-4974600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr10:4973800-4974600	Enhancers	HSMM	muscle
25	chr10:4973800-4974800	Enhancers	HepG2	liver
26	chr10:4973800-4975200	Enhancers	K562	blood

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