Variant report

Variant	rs12247045
Chromosome Location	chr10:49861278-49861279
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11101360	1.00[AMR][1000 genomes]
rs11101379	1.00[AMR][1000 genomes]
rs12252913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12258201	1.00[AMR][1000 genomes]
rs12263105	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49843400-49862600	Weak transcription	NHLF	lung
2	chr10:49844000-49863400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr10:49848000-49861600	Weak transcription	Osteobl	bone
4	chr10:49850600-49863400	Weak transcription	Pancreas	Pancrea
5	chr10:49852200-49862400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr10:49853000-49863400	Weak transcription	Right Atrium	heart
7	chr10:49853800-49863400	Weak transcription	Aorta	Aorta
8	chr10:49854200-49863400	Weak transcription	Brain Angular Gyrus	brain
9	chr10:49855000-49862600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr10:49856200-49863200	Weak transcription	Spleen	Spleen
11	chr10:49856600-49862400	Weak transcription	HMEC	breast
12	chr10:49857800-49861400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:49859200-49863400	Enhancers	Brain Substantia Nigra	brain
14	chr10:49859400-49863000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:49859600-49861400	Weak transcription	Lung	lung
16	chr10:49859600-49861800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr10:49860000-49862600	Weak transcription	Adipose Nuclei	Adipose
18	chr10:49860200-49861400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:49860200-49862400	Weak transcription	HSMM	muscle
20	chr10:49860200-49863200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:49860400-49861800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr10:49860400-49862400	Weak transcription	Brain Anterior Caudate	brain
23	chr10:49860400-49863200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr10:49860400-49863400	Weak transcription	HSMMtube	muscle
25	chr10:49860600-49863400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:49860800-49861600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:49860800-49862400	Weak transcription	Brain Hippocampus Middle	brain
28	chr10:49861000-49861400	Enhancers	GM12878-XiMat	blood
29	chr10:49861200-49862400	Weak transcription	Colonic Mucosa	Colon
30	chr10:49861200-49862800	Enhancers	Brain Cingulate Gyrus	brain

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