Variant report

Variant	rs11024693
Chromosome Location	chr11:18534522-18534523
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:18533757..18535476-chr11:18537479..18539659,2	MCF-7	breast:
2	chr11:18533507..18535848-chr11:18546408..18548301,3	K562	blood:
3	chr11:18533507..18535312-chr11:18546583..18548769,2	K562	blood:

Variant related genes	Relation type
ENSG00000074319	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10500835	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11024669	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11024677	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024688	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11024714	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11024715	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11024725	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11024726	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12222154	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12289223	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12421394	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16935541	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16935559	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16935575	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2279902	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2291751	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2292179	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3781640	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55969503	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61882886	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884673	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61884715	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61884716	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61884723	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61884724	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61886140	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61886141	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[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	nsv1038015	chr11:18435855-18558211	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	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
5	nsv467719	chr11:18447611-18542227	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv553634	chr11:18447611-18542227	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11024693	TSG101	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18496200-18538000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:18496200-18541200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr11:18496400-18542000	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr11:18496600-18540600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr11:18496600-18541000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:18500000-18547000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:18504000-18540600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:18509000-18537600	Strong transcription	Liver	Liver
9	chr11:18509000-18540200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:18509000-18540600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr11:18509600-18540200	Strong transcription	Placenta	Placenta
12	chr11:18510800-18541400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr11:18513000-18544000	Weak transcription	Gastric	stomach
14	chr11:18513000-18544000	Weak transcription	Psoas Muscle	Psoas
15	chr11:18513000-18547600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:18514600-18540800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:18514800-18539800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:18515000-18537600	Strong transcription	Fetal Thymus	thymus
19	chr11:18515000-18540000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:18515000-18540600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:18515200-18538000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:18515400-18547200	Weak transcription	Stomach Mucosa	stomach
23	chr11:18515600-18537600	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr11:18515600-18537800	Strong transcription	Fetal Intestine Large	intestine
25	chr11:18516200-18538200	Strong transcription	Adipose Nuclei	Adipose
26	chr11:18516200-18538800	Strong transcription	Fetal Muscle Trunk	muscle
27	chr11:18516200-18540400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:18516400-18540400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:18516800-18541800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:18517200-18540400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:18518000-18539200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:18518200-18538600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:18518200-18540400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr11:18518600-18537200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:18519200-18540600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:18519200-18540800	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:18519200-18540800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:18519400-18540400	Strong transcription	Primary T cells from cord blood	blood
39	chr11:18520600-18534800	Weak transcription	Right Ventricle	heart
40	chr11:18521200-18537400	Strong transcription	Primary B cells from cord blood	blood
41	chr11:18521400-18540800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:18523800-18547400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr11:18524200-18547200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:18524200-18547400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:18524400-18534800	Weak transcription	Fetal Heart	heart
46	chr11:18524600-18536200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:18525200-18536000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:18525400-18537400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:18525400-18537800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr11:18525600-18538200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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