Variant report

Variant	rs518780
Chromosome Location	chr11:62541120-62541121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62378763..62382397-chr11:62538915..62541537,3	K562	blood:
2	chr11:62519922..62523309-chr11:62537231..62541263,10	K562	blood:
3	chr11:62492468..62497703-chr11:62536172..62541412,7	MCF-7	breast:
4	chr11:62376924..62380375-chr11:62537380..62541874,4	K562	blood:
5	chr11:62535952..62541500-chr11:62604915..62611417,24	K562	blood:
6	chr11:62536052..62541340-chr11:62621462..62624868,6	K562	blood:
7	chr11:62537089..62541137-chr11:62605130..62610594,9	MCF-7	breast:
8	chr11:62538143..62541340-chr11:62621792..62623970,4	K562	blood:
9	chr11:62431329..62435503-chr11:62537314..62541493,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162194	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000185670	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000149489	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11822922	1.00[EUR][1000 genomes]
rs12273912	1.00[EUR][1000 genomes]
rs1787724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2510538	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2584915	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2584917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2730030	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2956139	1.00[EUR][1000 genomes]
rs2958240	1.00[EUR][1000 genomes]
rs481272	1.00[EUR][1000 genomes]
rs482331	1.00[EUR][1000 genomes]
rs486451	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs489275	1.00[EUR][1000 genomes]
rs4963309	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs506132	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs507101	1.00[EUR][1000 genomes]
rs514401	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs519473	1.00[EUR][1000 genomes]
rs523328	1.00[EUR][1000 genomes]
rs544573	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs560618	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs561385	1.00[EUR][1000 genomes]
rs56226867	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56262657	1.00[EUR][1000 genomes]
rs564587	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs572513	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs573146	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57338459	1.00[EUR][1000 genomes]
rs575134	1.00[EUR][1000 genomes]
rs577071	1.00[EUR][1000 genomes]
rs57858466	1.00[EUR][1000 genomes]
rs592337	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs595108	1.00[EUR][1000 genomes]
rs60568977	1.00[EUR][1000 genomes]
rs60668695	1.00[EUR][1000 genomes]
rs619109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs646194	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs692773	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs694678	1.00[EUR][1000 genomes]
rs73487834	1.00[EUR][1000 genomes]
rs73487878	1.00[EUR][1000 genomes]
rs73487879	1.00[EUR][1000 genomes]
rs73487880	1.00[EUR][1000 genomes]
rs73490026	1.00[EUR][1000 genomes]
rs73502133	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
6	nsv555175	chr11:62538829-62555086	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62539400-62554200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:62539600-62541800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:62539600-62542600	Weak transcription	Gastric	stomach
4	chr11:62539600-62542800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:62539600-62542800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:62539600-62542800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:62539600-62543000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:62539600-62543000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:62539600-62544800	Weak transcription	HSMMtube	muscle
10	chr11:62539600-62545400	Weak transcription	Aorta	Aorta
11	chr11:62539600-62553200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:62539600-62553400	Weak transcription	Stomach Mucosa	stomach
13	chr11:62539600-62553600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr11:62539600-62553600	Weak transcription	Right Atrium	heart
15	chr11:62539800-62541200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:62539800-62541200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:62539800-62541200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:62539800-62541200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:62539800-62541200	Weak transcription	Lung	lung
20	chr11:62539800-62541200	Weak transcription	Ovary	ovary
21	chr11:62539800-62541600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:62539800-62541800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:62539800-62541800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:62539800-62541800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:62539800-62541800	Weak transcription	Esophagus	oesophagus
26	chr11:62539800-62541800	Weak transcription	Fetal Intestine Small	intestine
27	chr11:62539800-62541800	Weak transcription	Pancreas	Pancrea
28	chr11:62539800-62541800	Weak transcription	Thymus	Thymus
29	chr11:62539800-62542000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:62539800-62542000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:62539800-62542000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr11:62539800-62542000	Weak transcription	Fetal Lung	lung
33	chr11:62539800-62542000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr11:62539800-62542600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:62539800-62542600	Weak transcription	Colonic Mucosa	Colon
36	chr11:62539800-62542800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:62539800-62542800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:62539800-62542800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr11:62539800-62542800	Weak transcription	Primary T cells from cord blood	blood
40	chr11:62539800-62542800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:62539800-62542800	Weak transcription	Brain Angular Gyrus	brain
42	chr11:62539800-62542800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:62539800-62542800	Weak transcription	HepG2	liver
44	chr11:62539800-62543000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:62539800-62543000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:62539800-62543000	Weak transcription	Primary B cells from cord blood	blood
47	chr11:62539800-62543000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:62539800-62543000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:62539800-62543000	Weak transcription	Adipose Nuclei	Adipose
50	chr11:62539800-62543000	Weak transcription	Brain Germinal Matrix	brain

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