Variant report

Variant	rs56120850
Chromosome Location	chr11:71219029-71219030
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71214959..71216939-chr11:71218643..71221307,2	K562	blood:
2	chr11:71214307..71215980-chr11:71218058..71219909,2	K562	blood:

Variant related genes	Relation type
ENSG00000172890	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10160376	1.00[EUR][1000 genomes]
rs10160536	1.00[EUR][1000 genomes]
rs10450661	1.00[EUR][1000 genomes]
rs10466698	1.00[EUR][1000 genomes]
rs10466717	1.00[EUR][1000 genomes]
rs11233662	1.00[EUR][1000 genomes]
rs11233679	1.00[EUR][1000 genomes]
rs11233754	1.00[EUR][1000 genomes]
rs11233871	1.00[EUR][1000 genomes]
rs11233901	1.00[EUR][1000 genomes]
rs11233950	1.00[EUR][1000 genomes]
rs11234008	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11234009	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12270619	1.00[EUR][1000 genomes]
rs12271661	1.00[EUR][1000 genomes]
rs12271811	1.00[EUR][1000 genomes]
rs12271894	1.00[EUR][1000 genomes]
rs12271996	1.00[EUR][1000 genomes]
rs12272475	1.00[EUR][1000 genomes]
rs12272819	1.00[EUR][1000 genomes]
rs12274022	1.00[EUR][1000 genomes]
rs12274073	1.00[EUR][1000 genomes]
rs12274363	1.00[EUR][1000 genomes]
rs12275637	1.00[EUR][1000 genomes]
rs12277617	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12277693	1.00[EUR][1000 genomes]
rs12278475	1.00[EUR][1000 genomes]
rs12280295	1.00[EUR][1000 genomes]
rs12281892	1.00[EUR][1000 genomes]
rs12282060	1.00[EUR][1000 genomes]
rs12283407	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12283656	1.00[EUR][1000 genomes]
rs12285168	1.00[EUR][1000 genomes]
rs12285189	1.00[EUR][1000 genomes]
rs12285333	1.00[EUR][1000 genomes]
rs12285566	1.00[EUR][1000 genomes]
rs12286197	1.00[EUR][1000 genomes]
rs12286997	1.00[EUR][1000 genomes]
rs12289365	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12289373	1.00[EUR][1000 genomes]
rs12291219	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12292886	1.00[EUR][1000 genomes]
rs12293132	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12294879	1.00[EUR][1000 genomes]
rs12295554	1.00[EUR][1000 genomes]
rs17161531	1.00[EUR][1000 genomes]
rs2298775	1.00[EUR][1000 genomes]
rs28468070	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28481909	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28655145	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3794059	1.00[EUR][1000 genomes]
rs3794061	1.00[EUR][1000 genomes]
rs3814732	1.00[EUR][1000 genomes]
rs56012338	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59601821	1.00[EUR][1000 genomes]
rs61440863	1.00[EUR][1000 genomes]
rs6592104	1.00[EUR][1000 genomes]
rs73530502	1.00[EUR][1000 genomes]
rs7950649	0.94[AFR][1000 genomes]
rs7950991	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
3	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71210400-71220200	Weak transcription	NHEK	skin
2	chr11:71210600-71219200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:71211800-71220600	Weak transcription	NH-A	brain
4	chr11:71211800-71232400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:71212000-71220600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:71213000-71219600	Weak transcription	Primary B cells from cord blood	blood
7	chr11:71213000-71220800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:71213200-71220600	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:71213200-71232200	Weak transcription	Brain Angular Gyrus	brain
10	chr11:71213400-71219200	Weak transcription	HepG2	liver
11	chr11:71214600-71220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:71214800-71219400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:71215000-71222400	Weak transcription	HSMM	muscle
14	chr11:71215400-71219600	Weak transcription	Left Ventricle	heart
15	chr11:71215600-71219400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr11:71215600-71220600	Weak transcription	Colonic Mucosa	Colon
17	chr11:71215600-71236600	Weak transcription	Brain Anterior Caudate	brain
18	chr11:71215800-71219400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:71216000-71219200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:71216000-71220000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:71216400-71235400	Weak transcription	Brain Substantia Nigra	brain
22	chr11:71216600-71219800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:71217000-71222000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:71217400-71219400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr11:71217400-71219800	Weak transcription	Gastric	stomach
26	chr11:71217400-71220400	Weak transcription	Adipose Nuclei	Adipose
27	chr11:71217400-71220400	Weak transcription	Fetal Intestine Large	intestine
28	chr11:71217600-71219600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:71217800-71219200	Weak transcription	Primary T cells from cord blood	blood
30	chr11:71217800-71219400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:71217800-71220000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:71217800-71221000	Weak transcription	Liver	Liver
33	chr11:71217800-71221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:71218000-71219200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:71218000-71219600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:71218000-71220400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:71218000-71220600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:71218000-71220600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr11:71218000-71220600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr11:71218400-71219400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:71218400-71219800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:71218400-71219800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:71218400-71219800	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:71218400-71221000	Weak transcription	Fetal Intestine Small	intestine
45	chr11:71218400-71221200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:71218600-71219800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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