Variant report

Variant	rs11024726
Chromosome Location	chr11:18609134-18609135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18546321..18548809-chr11:18607625..18610007,2	K562	blood:
2	chr11:18599363..18605712-chr11:18606522..18612149,6	MCF-7	breast:
3	chr11:18608525..18612049-chr11:18615119..18618882,10	MCF-7	breast:
4	chr11:18608840..18612225-chr11:18653403..18657833,8	MCF-7	breast:
5	chr11:18597269..18603847-chr11:18605648..18613112,11	MCF-7	breast:
6	chr11:18572038..18574109-chr11:18607520..18610133,2	MCF-7	breast:
7	chr11:18608159..18612115-chr11:18615596..18618860,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256282	Chromatin interaction
ENSG00000179119	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000151116	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10500835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024669	0.86[EUR][1000 genomes]
rs11024677	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024688	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11024693	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11024714	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024715	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024727	0.85[ASN][1000 genomes]
rs11024728	0.85[ASN][1000 genomes]
rs12222154	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12289223	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12421394	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16935541	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16935559	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16935575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979051	0.83[EUR][1000 genomes]
rs2279902	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2291751	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2292179	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3781640	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4436523	0.83[EUR][1000 genomes]
rs55969503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61882886	0.87[EUR][1000 genomes]
rs61884673	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61884715	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61884716	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61884723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61884724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61886140	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61886141	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6416020	0.80[ASN][1000 genomes]
rs7105387	0.81[ASN][1000 genomes]
rs72881309	0.85[ASN][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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	esv2761651	chr11:18606832-18621409	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11024726	TSG101	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18565200-18609400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:18574400-18609400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:18575000-18609200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:18575200-18609200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:18583000-18609400	Weak transcription	Esophagus	oesophagus
6	chr11:18584400-18609800	Weak transcription	Spleen	Spleen
7	chr11:18592200-18609400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:18593600-18609400	Weak transcription	Aorta	Aorta
9	chr11:18595200-18609200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:18600000-18609400	Weak transcription	Left Ventricle	heart
11	chr11:18600200-18609200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:18601200-18609200	Weak transcription	NH-A	brain
13	chr11:18601200-18609400	Weak transcription	Fetal Intestine Small	intestine
14	chr11:18608000-18609200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:18608000-18609400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:18608200-18609400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:18608200-18609400	Enhancers	Placenta Amnion	Placenta Amnion
18	chr11:18608400-18609200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:18608400-18609200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:18608400-18609400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr11:18608600-18609200	Flanking Active TSS	GM12878-XiMat	blood
22	chr11:18608600-18609400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr11:18608600-18609400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr11:18608600-18609400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr11:18608600-18609400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:18608600-18609400	Enhancers	Liver	Liver
27	chr11:18608600-18609400	Enhancers	Brain Angular Gyrus	brain
28	chr11:18608600-18609400	Enhancers	Brain Cingulate Gyrus	brain
29	chr11:18608600-18609400	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr11:18608600-18609400	Enhancers	Fetal Heart	heart
31	chr11:18608600-18609400	Enhancers	Small Intestine	intestine
32	chr11:18608800-18609200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr11:18608800-18609200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:18608800-18609200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:18608800-18609200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr11:18608800-18609200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:18608800-18609200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:18608800-18609200	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr11:18608800-18609200	Enhancers	Fetal Lung	lung
40	chr11:18608800-18609200	Flanking Active TSS	HMEC	breast
41	chr11:18608800-18609200	Enhancers	HUVEC	blood vessel
42	chr11:18608800-18609200	Enhancers	K562	blood
43	chr11:18608800-18609400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr11:18608800-18609400	Enhancers	Primary B cells from peripheral blood	blood
45	chr11:18608800-18609400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr11:18608800-18609400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr11:18608800-18609400	Enhancers	Brain Substantia Nigra	brain
48	chr11:18608800-18609400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr11:18608800-18609400	Enhancers	Stomach Mucosa	stomach
50	chr11:18608800-18609600	Flanking Active TSS	Hela-S3	cervix

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