Variant report

Variant	rs11024725
Chromosome Location	chr11:18608839-18608840
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	chr11:18546321..18548809-chr11:18607625..18610007,2	K562	blood:
2	chr11:18599363..18605712-chr11:18606522..18612149,6	MCF-7	breast:
3	chr11:18606558..18609018-chr11:18609349..18612964,3	K562	blood:
4	chr11:18608525..18612049-chr11:18615119..18618882,10	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	chr11:18606558..18609018-chr11:18609349..18611794,2	K562	blood:
8	chr11:18547186..18549445-chr11:18607046..18609012,2	K562	blood:
9	chr11:18608159..18612115-chr11:18615596..18618860,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256282	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[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024669	0.86[EUR][1000 genomes]
rs11024677	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11024688	1.00[CEU][hapmap];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	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024726	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	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12289223	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12421394	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16935541	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16935559	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16935575	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979051	0.83[EUR][1000 genomes]
rs2279902	1.00[CEU][hapmap];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	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3781640	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4436523	0.83[EUR][1000 genomes]
rs55969503	0.89[AFR][1000 genomes];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[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61884724	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
rs11024725	TSG101	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18549600-18609000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:18549600-18609000	Weak transcription	Fetal Brain Male	brain
3	chr11:18565200-18609400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:18574400-18609400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:18575000-18609200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr11:18575200-18609200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:18578000-18609000	Weak transcription	Right Ventricle	heart
8	chr11:18578200-18609000	Weak transcription	Primary T cells from cord blood	blood
9	chr11:18578400-18609000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:18581000-18609000	Weak transcription	Pancreas	Pancrea
11	chr11:18583000-18609400	Weak transcription	Esophagus	oesophagus
12	chr11:18584400-18609800	Weak transcription	Spleen	Spleen
13	chr11:18586400-18609000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:18592200-18609000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:18592200-18609400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:18593600-18609400	Weak transcription	Aorta	Aorta
17	chr11:18594800-18609000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:18595000-18609000	Weak transcription	Primary B cells from cord blood	blood
19	chr11:18595200-18609200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:18597200-18609000	Weak transcription	Fetal Thymus	thymus
21	chr11:18599200-18609000	Weak transcription	Fetal Stomach	stomach
22	chr11:18600000-18609000	Weak transcription	Lung	lung
23	chr11:18600000-18609400	Weak transcription	Left Ventricle	heart
24	chr11:18600200-18609200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:18601000-18609000	Weak transcription	Placenta	Placenta
26	chr11:18601200-18609000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:18601200-18609000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:18601200-18609000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:18601200-18609000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:18601200-18609000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr11:18601200-18609000	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:18601200-18609000	Weak transcription	Ovary	ovary
33	chr11:18601200-18609200	Weak transcription	NH-A	brain
34	chr11:18601200-18609400	Weak transcription	Fetal Intestine Small	intestine
35	chr11:18601400-18609000	Weak transcription	HSMM	muscle
36	chr11:18601400-18609000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr11:18606600-18609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:18606600-18609000	Weak transcription	Gastric	stomach
39	chr11:18607400-18609000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:18607800-18609000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr11:18608000-18609200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:18608000-18609400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr11:18608200-18609000	Enhancers	Brain Germinal Matrix	brain
44	chr11:18608200-18609000	Weak transcription	Colonic Mucosa	Colon
45	chr11:18608200-18609400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:18608200-18609400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr11:18608400-18609000	Enhancers	Psoas Muscle	Psoas
48	chr11:18608400-18609200	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr11:18608400-18609200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:18608400-18609400	Enhancers	Sigmoid Colon	Sigmoid Colon

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