Variant report

Variant	rs12082069
Chromosome Location	chr1:222218215-222218216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221897172..221898775-chr1:222217988..222220740,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10863674	0.86[EUR][1000 genomes]
rs11118911	0.82[ASN][1000 genomes]
rs11118921	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11118922	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11118923	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11118924	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11118925	0.84[EUR][1000 genomes]
rs11118929	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12070612	0.82[EUR][1000 genomes]
rs12083686	0.82[ASN][1000 genomes]
rs12090915	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12403104	0.83[ASN][1000 genomes]
rs17441981	0.82[EUR][1000 genomes]
rs17442148	0.96[ASN][1000 genomes]
rs17495034	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2225999	0.86[EUR][1000 genomes]
rs34601597	0.83[ASN][1000 genomes]
rs34736719	0.81[ASN][1000 genomes]
rs4291507	0.82[ASN][1000 genomes]
rs59826275	0.89[ASN][1000 genomes]
rs61823898	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7538348	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222215200-222218400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:222215200-222219400	Enhancers	HSMMtube	muscle
3	chr1:222215200-222219600	Enhancers	HSMM	muscle
4	chr1:222216600-222219000	Enhancers	Left Ventricle	heart
5	chr1:222217000-222219200	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:222217000-222222400	Weak transcription	Right Ventricle	heart
7	chr1:222217200-222221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:222217400-222219600	Enhancers	Fetal Heart	heart
9	chr1:222217400-222220200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:222217400-222221400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:222217400-222223800	Weak transcription	Aorta	Aorta
12	chr1:222217800-222219000	Enhancers	Stomach Smooth Muscle	stomach
13	chr1:222217800-222220400	Weak transcription	Fetal Brain Male	brain
14	chr1:222217800-222220600	Weak transcription	Brain Angular Gyrus	brain
15	chr1:222218000-222219000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:222218000-222219000	Weak transcription	Fetal Stomach	stomach
17	chr1:222218000-222219400	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:222218000-222220400	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:222218000-222220600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:222218000-222220600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:222218000-222220600	Weak transcription	Brain Substantia Nigra	brain
22	chr1:222218000-222220600	Weak transcription	HMEC	breast
23	chr1:222218000-222221200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:222218000-222221200	Weak transcription	NHLF	lung
25	chr1:222218000-222221400	Weak transcription	NH-A	brain
26	chr1:222218000-222221600	Weak transcription	Brain Germinal Matrix	brain
27	chr1:222218000-222222200	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:222218000-222227800	Weak transcription	Brain Anterior Caudate	brain
29	chr1:222218200-222218600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:222218200-222218600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:222218200-222220600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:222218200-222220600	Weak transcription	NHDF-Ad	bronchial
33	chr1:222218200-222221200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:222218200-222221200	Weak transcription	Osteobl	bone
35	chr1:222218200-222221400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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