Variant report

Variant	rs61884724
Chromosome Location	chr11:18610041-18610042
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18609996..18610733-chr13:28195557..28196494,2	NB4	blood:
2	chr11:18599363..18605712-chr11:18606522..18612149,6	MCF-7	breast:
3	chr11:18608525..18612049-chr11:18615119..18618882,10	MCF-7	breast:
4	chr11:18032918..18034516-chr11:18609753..18611706,2	MCF-7	breast:
5	chr11:18608840..18612225-chr11:18653403..18657833,8	MCF-7	breast:
6	chr11:18597269..18603847-chr11:18605648..18613112,11	MCF-7	breast:
7	chr11:18572038..18574109-chr11:18607520..18610133,2	MCF-7	breast:
8	chr11:18546303..18549278-chr11:18609985..18612598,2	K562	blood:
9	chr11:18609259..18612621-chr11:18654534..18657923,6	MCF-7	breast:
10	chr11:18608159..18612115-chr11:18615596..18618860,5	MCF-7	breast:
11	chr11:18548142..18548670-chr11:18609940..18610633,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000129158	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000186184	Chromatin interaction
ENSG00000256282	Chromatin interaction
ENSG00000179119	Chromatin interaction
ENSG00000151116	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10500835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11024669	0.86[EUR][1000 genomes]
rs11024677	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11024688	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11024693	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11024714	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11024715	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11024725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11024726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12222154	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12289223	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12421394	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16935541	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16935559	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16935575	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1979051	0.83[EUR][1000 genomes]
rs2279902	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2291751	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2292179	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3781640	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4436523	0.83[EUR][1000 genomes]
rs55969503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61882886	0.87[EUR][1000 genomes]
rs61884673	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61884715	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61884716	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61884723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61886140	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61886141	0.83[AMR][1000 genomes];0.89[EUR][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
rs61884724	TSG101	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18608800-18610800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:18608800-18610800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:18608800-18610800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr11:18608800-18611000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:18608800-18611000	Active TSS	Stomach Smooth Muscle	stomach
6	chr11:18608800-18611000	Active TSS	HSMMtube	muscle
7	chr11:18608800-18611400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:18608800-18612200	Active TSS	A549	lung
9	chr11:18609000-18610600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:18609000-18611000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:18609000-18611000	Active TSS	Fetal Kidney	kidney
12	chr11:18609000-18611200	Active TSS	NHLF	lung
13	chr11:18609000-18611400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:18609000-18611400	Active TSS	Right Atrium	heart
15	chr11:18609000-18611400	Active TSS	NHDF-Ad	bronchial
16	chr11:18609000-18611800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr11:18609000-18611800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr11:18609000-18611800	Active TSS	Fetal Brain Female	brain
19	chr11:18609000-18612000	Active TSS	Colonic Mucosa	Colon
20	chr11:18609200-18610400	Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr11:18609200-18610600	Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr11:18609200-18610600	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:18609200-18610600	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr11:18609200-18610800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:18609200-18610800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:18609200-18610800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:18609200-18610800	Active TSS	HSMM	muscle
28	chr11:18609200-18610800	Active TSS	NH-A	brain
29	chr11:18609200-18611000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:18609200-18611000	Active TSS	Fetal Intestine Large	intestine
31	chr11:18609200-18611000	Active TSS	HMEC	breast
32	chr11:18609200-18611000	Active TSS	K562	blood
33	chr11:18609200-18611200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr11:18609200-18611200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:18609200-18611200	Active TSS	Thymus	Thymus
36	chr11:18609200-18611400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr11:18609200-18611400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:18609200-18611400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:18609200-18611400	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr11:18609200-18611400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:18609200-18611400	Active TSS	GM12878-XiMat	blood
42	chr11:18609200-18612000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:18609200-18612000	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr11:18609200-18612200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:18609400-18610400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:18609400-18610600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr11:18609400-18610600	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr11:18609400-18610800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:18609400-18610800	Active TSS	Brain Cingulate Gyrus	brain
50	chr11:18609400-18610800	Active TSS	Colon Smooth Muscle	Colon

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