Variant report

Variant	rs56820808
Chromosome Location	chr2:11850025-11850026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11837517..11840283-chr2:11849750..11852700,2	MCF-7	breast:
2	chr2:11846985..11850367-chr2:11854727..11856903,3	K562	blood:
3	chr2:11832559..11835214-chr2:11848775..11850407,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10183250	1.00[EUR][1000 genomes]
rs11886664	1.00[EUR][1000 genomes]
rs11890221	1.00[EUR][1000 genomes]
rs11895768	1.00[EUR][1000 genomes]
rs13420559	1.00[EUR][1000 genomes]
rs13421766	1.00[EUR][1000 genomes]
rs13424731	1.00[EUR][1000 genomes]
rs16857649	1.00[EUR][1000 genomes]
rs16857699	1.00[EUR][1000 genomes]
rs55736020	1.00[EUR][1000 genomes]
rs56352405	1.00[EUR][1000 genomes]
rs56834951	1.00[EUR][1000 genomes]
rs57779431	1.00[EUR][1000 genomes]
rs58686966	1.00[EUR][1000 genomes]
rs59101452	1.00[EUR][1000 genomes]
rs59157966	1.00[EUR][1000 genomes]
rs59416046	1.00[EUR][1000 genomes]
rs59836200	1.00[EUR][1000 genomes]
rs60798771	1.00[EUR][1000 genomes]
rs61305782	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61382095	1.00[EUR][1000 genomes]
rs6745921	1.00[EUR][1000 genomes]
rs73185109	1.00[EUR][1000 genomes]
rs73917104	1.00[EUR][1000 genomes]
rs73917107	1.00[EUR][1000 genomes]
rs73917124	1.00[EUR][1000 genomes]
rs73917127	1.00[EUR][1000 genomes]
rs7562399	1.00[EUR][1000 genomes]
rs7585718	1.00[EUR][1000 genomes]
rs7602962	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11841600-11850200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:11841800-11850200	Weak transcription	Brain Angular Gyrus	brain
3	chr2:11844200-11854200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:11844600-11856400	Weak transcription	Psoas Muscle	Psoas
5	chr2:11845800-11851000	Weak transcription	Liver	Liver
6	chr2:11847800-11850200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:11848200-11851000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:11848600-11850200	Weak transcription	Fetal Lung	lung
9	chr2:11848600-11852200	Weak transcription	Placenta	Placenta
10	chr2:11848800-11850200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:11848800-11854600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:11848800-11855400	Weak transcription	Pancreas	Pancrea
13	chr2:11849000-11854400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:11849400-11852800	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:11849800-11851200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:11849800-11851400	Enhancers	HMEC	breast
17	chr2:11849800-11851400	Enhancers	NH-A	brain
18	chr2:11849800-11852000	Enhancers	Colon Smooth Muscle	Colon
19	chr2:11849800-11852800	Enhancers	NHLF	lung
20	chr2:11849800-11853200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:11849800-11853200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:11849800-11853400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:11850000-11850600	Enhancers	Adipose Nuclei	Adipose
24	chr2:11850000-11850600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:11850000-11850800	Enhancers	Aorta	Aorta
26	chr2:11850000-11850800	Enhancers	HUVEC	blood vessel
27	chr2:11850000-11851000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:11850000-11851400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:11850000-11851400	Enhancers	Rectal Smooth Muscle	rectum
30	chr2:11850000-11851400	Enhancers	NHEK	skin
31	chr2:11850000-11851600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:11850000-11851600	Enhancers	NHDF-Ad	bronchial
33	chr2:11850000-11851600	Enhancers	Osteobl	bone
34	chr2:11850000-11852000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:11850000-11852000	Enhancers	Stomach Smooth Muscle	stomach
36	chr2:11850000-11852600	Enhancers	Brain Substantia Nigra	brain
37	chr2:11850000-11852600	Enhancers	Ovary	ovary

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