Variant report

Variant	rs11101413
Chromosome Location	chr10:49858748-49858749
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11101405	0.81[AMR][1000 genomes]
rs67148483	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs68083305	0.81[AMR][1000 genomes];0.81[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11101413	ERCC6	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49842000-49859400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:49843400-49862600	Weak transcription	NHLF	lung
3	chr10:49844000-49863400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:49847800-49859600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr10:49847800-49859600	Weak transcription	HSMM	muscle
6	chr10:49848000-49861600	Weak transcription	Osteobl	bone
7	chr10:49850600-49863400	Weak transcription	Pancreas	Pancrea
8	chr10:49852200-49862400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:49853000-49863400	Weak transcription	Right Atrium	heart
10	chr10:49853400-49858800	Weak transcription	Brain Hippocampus Middle	brain
11	chr10:49853800-49863400	Weak transcription	Aorta	Aorta
12	chr10:49854200-49863400	Weak transcription	Brain Angular Gyrus	brain
13	chr10:49854800-49859400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr10:49855000-49862600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:49856200-49863200	Weak transcription	Spleen	Spleen
16	chr10:49856400-49859200	Weak transcription	Brain Substantia Nigra	brain
17	chr10:49856600-49862400	Weak transcription	HMEC	breast
18	chr10:49857600-49860000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:49857800-49859600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr10:49857800-49859600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr10:49857800-49861400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:49858000-49859000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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