Variant report

Variant	rs72989929
Chromosome Location	chr11:75226186-75226187
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75223800..75226938-chr11:75231769..75233776,3	MCF-7	breast:
2	chr11:75218096..75221646-chr11:75223252..75227723,6	K562	blood:
3	chr11:75222519..75225497-chr11:75225539..75227734,4	K562	blood:
4	chr11:75218809..75221385-chr11:75224264..75227762,3	MCF-7	breast:
5	chr11:75224542..75226195-chr11:75234850..75236981,3	K562	blood:
6	chr11:75210731..75213962-chr11:75224563..75227666,3	MCF-7	breast:
7	chr11:75224068..75229006-chr11:75230364..75234823,7	K562	blood:
8	chr11:75222681..75225497-chr11:75225539..75227734,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254460	Chromatin interaction
ENSG00000158555	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11236448	0.92[ASN][1000 genomes]
rs11236449	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11236452	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12361128	0.92[ASN][1000 genomes]
rs12362081	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12362890	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];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7938523	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs947844	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[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:40 , 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	chr11:75219000-75231800	Weak transcription	Right Atrium	heart
5	chr11:75220400-75226600	Weak transcription	Primary T cells from cord blood	blood
6	chr11:75220400-75227200	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr11:75220400-75227400	Weak transcription	Esophagus	oesophagus
8	chr11:75220400-75228000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr11:75220400-75235200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:75220600-75227200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:75220600-75227800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr11:75220600-75228000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:75221400-75227400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr11:75221600-75226800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:75221600-75226800	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:75221800-75227200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:75221800-75228800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:75222000-75226200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:75222000-75227600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:75222000-75230000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:75222200-75229600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr11:75222600-75227400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:75224200-75228000	Genic enhancers	HepG2	liver
24	chr11:75224600-75226800	Enhancers	Spleen	Spleen
25	chr11:75224800-75227200	Weak transcription	K562	blood
26	chr11:75224800-75227800	Genic enhancers	Placenta	Placenta
27	chr11:75224800-75228000	Strong transcription	HSMMtube	muscle
28	chr11:75225000-75228600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr11:75225000-75230400	Enhancers	Primary B cells from peripheral blood	blood
30	chr11:75225200-75226400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:75225200-75227800	Genic enhancers	Fetal Intestine Large	intestine
32	chr11:75225400-75229200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:75225400-75229800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:75225600-75226200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr11:75225600-75229600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr11:75225600-75231000	Weak transcription	Adipose Nuclei	Adipose
37	chr11:75225800-75227200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:75225800-75228400	Weak transcription	Lung	lung
39	chr11:75225800-75228600	Weak transcription	Pancreas	Pancrea
40	chr11:75226000-75227800	Weak transcription	GM12878-XiMat	blood

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