Variant report

Variant	rs7912782
Chromosome Location	chr10:54040717-54040718
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:54040036..54043559-chr10:54043700..54046471,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10128309	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508962	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508963	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508965	1.00[ASN][1000 genomes]
rs11001195	1.00[ASN][1000 genomes]
rs11001263	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001298	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001416	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11001445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001452	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001453	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11597314	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11598203	1.00[ASN][1000 genomes]
rs1194500	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194502	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194515	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194516	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1201585	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12243664	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12244698	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258054	0.82[EUR][1000 genomes]
rs12269357	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269427	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406473	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1528880	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs16928983	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910542	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41281544	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7070276	1.00[ASN][1000 genomes]
rs7075923	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091481	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346996	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348710	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348739	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7907343	1.00[ASN][1000 genomes]
rs7909343	0.91[EUR][1000 genomes];1.00[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	nsv1045692	chr10:53301450-54086823	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv532194	chr10:53746620-54735550	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv895399	chr10:53900872-54219820	Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv550889	chr10:54016062-54044615	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54002000-54042000	Weak transcription	Aorta	Aorta
2	chr10:54017400-54042600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr10:54017400-54049600	Weak transcription	Left Ventricle	heart
4	chr10:54023600-54042000	Weak transcription	Psoas Muscle	Psoas
5	chr10:54028000-54045600	Weak transcription	NHDF-Ad	bronchial
6	chr10:54029800-54055400	Weak transcription	Fetal Lung	lung
7	chr10:54031400-54042200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:54032200-54044200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr10:54036000-54050400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:54036800-54047400	Weak transcription	Fetal Intestine Large	intestine
11	chr10:54037800-54056000	Weak transcription	Fetal Muscle Leg	muscle
12	chr10:54038800-54041000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:54039000-54041000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:54039400-54041000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:54039400-54042400	Weak transcription	HSMMtube	muscle
16	chr10:54039400-54042800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:54039800-54041400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:54040200-54041000	Enhancers	HMEC	breast
19	chr10:54040400-54044600	Weak transcription	Colon Smooth Muscle	Colon
20	chr10:54040600-54040800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:54040600-54041000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr10:54040600-54041000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:54040600-54041200	Enhancers	NHEK	skin
24	chr10:54040600-54041400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr10:54040600-54057000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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