Variant report

Variant	rs12362890
Chromosome Location	chr11:75223900-75223901
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75222681..75225497-chr11:75225539..75227734,2	K562	blood:
2	chr11:75223800..75226938-chr11:75231769..75233776,3	MCF-7	breast:
3	chr11:75219382..75221500-chr11:75221739..75224752,3	K562	blood:
4	chr11:75222519..75225497-chr11:75225539..75227734,4	K562	blood:
5	chr11:75218096..75221646-chr11:75223252..75227723,6	K562	blood:
6	chr11:75222954..75225318-chr11:75238533..75240384,2	K562	blood:

Variant related genes	Relation type
ENSG00000254460	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11236448	0.90[ASN][1000 genomes]
rs11236449	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11236452	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12361128	0.90[ASN][1000 genomes]
rs12362081	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109103	0.81[AMR][1000 genomes]
rs7110149	0.81[AMR][1000 genomes]
rs7128888	0.81[AMR][1000 genomes]
rs7129014	0.81[AMR][1000 genomes]
rs7129150	0.81[AMR][1000 genomes]
rs72989929	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72989989	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7938523	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs947844	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897923	chr11:75129007-75302855	Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75212600-75227400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:75216200-75233600	Genic enhancers	Fetal Intestine Small	intestine
3	chr11:75217800-75234800	Weak transcription	Ovary	ovary
4	chr11:75218800-75224400	Weak transcription	Right Ventricle	heart
5	chr11:75219000-75224800	Weak transcription	Left Ventricle	heart
6	chr11:75219000-75231800	Weak transcription	Right Atrium	heart
7	chr11:75220200-75225600	Weak transcription	GM12878-XiMat	blood
8	chr11:75220400-75224800	Weak transcription	HSMMtube	muscle
9	chr11:75220400-75226600	Weak transcription	Primary T cells from cord blood	blood
10	chr11:75220400-75227200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr11:75220400-75227400	Weak transcription	Esophagus	oesophagus
12	chr11:75220400-75228000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr11:75220400-75235200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr11:75220600-75224400	Weak transcription	Hela-S3	cervix
15	chr11:75220600-75227200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:75220600-75227800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:75220600-75228000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:75221400-75227400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:75221600-75224400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:75221600-75224400	Weak transcription	Lung	lung
21	chr11:75221600-75225000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:75221600-75225400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:75221600-75225600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:75221600-75226800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:75221600-75226800	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:75221800-75224400	Weak transcription	K562	blood
27	chr11:75221800-75225600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr11:75221800-75227200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:75221800-75228800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:75222000-75224000	Weak transcription	A549	lung
31	chr11:75222000-75226200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:75222000-75227600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr11:75222000-75230000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:75222200-75229600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:75222600-75224800	Weak transcription	Placenta	Placenta
36	chr11:75222600-75225200	Enhancers	Fetal Intestine Large	intestine
37	chr11:75222600-75227400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:75223000-75224400	Weak transcription	Pancreas	Pancrea
39	chr11:75223000-75225400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:75223200-75224000	Weak transcription	Spleen	Spleen
41	chr11:75223400-75224200	Weak transcription	HepG2	liver
42	chr11:75223600-75224800	Weak transcription	Adipose Nuclei	Adipose

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