Variant report

Variant	rs11001452
Chromosome Location	chr10:54045395-54045396
allele	A/C
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:
2	chr10:54044177..54046280-chr10:54072704..54074572,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000107984	Chromatin interaction
ENSG00000236671	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10128309	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508962	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508963	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508965	1.00[ASN][1000 genomes]
rs11001195	1.00[ASN][1000 genomes]
rs11001263	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001298	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001416	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11001445	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11001453	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11597314	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11598203	1.00[ASN][1000 genomes]
rs1194500	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194502	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194515	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194516	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1201585	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12243664	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12244698	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12258054	0.84[EUR][1000 genomes]
rs12269357	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12269427	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406473	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1528880	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs16928983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910542	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41281544	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7070276	1.00[ASN][1000 genomes]
rs7075923	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091481	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346996	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348710	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348739	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7907343	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7909343	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7912782	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:54017400-54049600	Weak transcription	Left Ventricle	heart
2	chr10:54028000-54045600	Weak transcription	NHDF-Ad	bronchial
3	chr10:54029800-54055400	Weak transcription	Fetal Lung	lung
4	chr10:54036000-54050400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr10:54036800-54047400	Weak transcription	Fetal Intestine Large	intestine
6	chr10:54037800-54056000	Weak transcription	Fetal Muscle Leg	muscle
7	chr10:54040600-54057000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr10:54040800-54045400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr10:54041000-54048600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:54041400-54068200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:54042800-54068200	Weak transcription	Aorta	Aorta
12	chr10:54043200-54047800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr10:54043200-54054600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr10:54043200-54060400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr10:54043200-54067800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:54043600-54047200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr10:54044600-54048000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:54045000-54055600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr10:54045000-54060400	Weak transcription	Psoas Muscle	Psoas
20	chr10:54045000-54068000	Weak transcription	HSMMtube	muscle

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