Variant report

Variant	rs12244962
Chromosome Location	chr10:23092825-23092826
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:23090452..23092008-chr10:23092511..23094369,2	K562	blood:
2	chr10:23092682..23094839-chr2:187127661..187130019,2	MCF-7	breast:
3	chr10:23090832..23093813-chr10:23094691..23097138,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10466054	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10508652	0.81[EUR][1000 genomes]
rs12242865	0.81[EUR][1000 genomes]
rs12259839	1.00[MEX][hapmap]
rs12261649	0.94[EUR][1000 genomes]
rs12262923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12265739	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28648575	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55839230	0.87[EUR][1000 genomes]
rs56098139	1.00[EUR][1000 genomes]
rs72810494	0.81[EUR][1000 genomes]
rs72810501	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72812403	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72812405	0.94[EUR][1000 genomes]
rs72812407	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72812415	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72812425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72812430	1.00[EUR][1000 genomes]
rs72816889	0.87[EUR][1000 genomes]
rs72816890	0.87[EUR][1000 genomes]
rs72816896	0.87[EUR][1000 genomes]
rs72816897	0.87[EUR][1000 genomes]
rs72816898	0.87[EUR][1000 genomes]
rs72816899	0.87[EUR][1000 genomes]
rs72816900	0.87[EUR][1000 genomes]
rs72818804	0.87[EUR][1000 genomes]
rs72818805	0.87[EUR][1000 genomes]
rs72818806	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72818808	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72818809	0.81[EUR][1000 genomes]
rs72818811	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894960	chr10:23049139-23113841	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv894961	chr10:23049139-23128475	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv466833	chr10:23050683-23110797	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv894962	chr10:23050683-23113841	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv894963	chr10:23050683-23121820	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv894964	chr10:23050683-23128475	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv894965	chr10:23071128-23113841	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2764013	chr10:23087298-23239345	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv894966	chr10:23090535-23202522	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23081200-23093000	Weak transcription	Brain Hippocampus Middle	brain
2	chr10:23090000-23093000	Enhancers	Fetal Stomach	stomach
3	chr10:23090800-23094400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr10:23090800-23095000	Enhancers	NHDF-Ad	bronchial
5	chr10:23091000-23093600	Weak transcription	Fetal Lung	lung
6	chr10:23091000-23093800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr10:23091600-23095800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr10:23091600-23096000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:23091800-23093000	Enhancers	NH-A	brain
10	chr10:23091800-23093200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:23091800-23094800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:23091800-23094800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:23091800-23095000	Enhancers	HSMMtube	muscle
14	chr10:23092000-23093000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:23092000-23093000	Enhancers	HMEC	breast
16	chr10:23092000-23093400	Enhancers	Stomach Smooth Muscle	stomach
17	chr10:23092000-23094200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr10:23092000-23094600	Enhancers	NHLF	lung
19	chr10:23092000-23095800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr10:23092200-23093000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr10:23092200-23093000	Enhancers	HSMM	muscle
22	chr10:23092200-23093000	Enhancers	NHEK	skin
23	chr10:23092200-23095400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr10:23092400-23093600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr10:23092400-23093800	Weak transcription	Brain Germinal Matrix	brain
26	chr10:23092400-23095000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr10:23092600-23093000	Flanking Active TSS	Osteobl	bone
28	chr10:23092600-23093200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:23092800-23094600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:23092800-23094600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:23092800-23095400	Enhancers	Brain Substantia Nigra	brain

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