Variant report

Variant	rs34873514
Chromosome Location	chr11:86514204-86514205
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	chr11:86168596..86172615-chr11:86512849..86516301,3	MCF-7	breast:
2	chr11:45823993..45827958-chr11:86511064..86514676,4	MCF-7	breast:
3	chr11:86345451..86347957-chr11:86512981..86515684,2	MCF-7	breast:
4	chr11:86387500..86388166-chr11:86513307..86514298,2	MCF-7	breast:
5	chr11:86381425..86386014-chr11:86508895..86515059,6	MCF-7	breast:
6	chr11:86411235..86420303-chr11:86507153..86518645,29	MCF-7	breast:
7	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
8	chr11:86509457..86512204-chr11:86513556..86515682,3	K562	blood:
9	chr11:86414005..86419352-chr11:86508550..86514510,10	MCF-7	breast:
10	chr11:86512936..86514521-chr17:56707897..56710223,2	MCF-7	breast:
11	chr11:86166230..86170690-chr11:86512399..86515625,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212195	Chromatin interaction
ENSG00000150687	Chromatin interaction
ENSG00000151376	Chromatin interaction
ENSG00000254731	Chromatin interaction
ENSG00000181830	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10898535	1.00[ASN][1000 genomes]
rs11234804	1.00[ASN][1000 genomes]
rs11234805	1.00[ASN][1000 genomes]
rs11234806	1.00[ASN][1000 genomes]
rs11602721	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604191	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11606902	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362094	1.00[ASN][1000 genomes]
rs12786875	1.00[ASN][1000 genomes]
rs12787853	1.00[ASN][1000 genomes]
rs12788554	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793595	1.00[ASN][1000 genomes]
rs12799567	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12805405	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1939118	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000537	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2000538	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2105587	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186617	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781614	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592314	1.00[ASN][1000 genomes]
rs7128682	1.00[ASN][1000 genomes]
rs750789	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs754490	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs872619	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv523704	chr11:86508928-86528437	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2760199	chr11:86512312-86531118	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86511000-86514800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:86511200-86514400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:86511400-86514600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:86512000-86527000	Weak transcription	Spleen	Spleen
5	chr11:86512200-86515000	Enhancers	Fetal Brain Male	brain
6	chr11:86512400-86514800	Flanking Active TSS	Osteobl	bone
7	chr11:86512400-86515600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:86512400-86515800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:86512600-86515000	Flanking Active TSS	HMEC	breast
10	chr11:86512600-86515400	Flanking Active TSS	HUVEC	blood vessel
11	chr11:86512600-86518600	Weak transcription	Small Intestine	intestine
12	chr11:86512600-86520600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:86512800-86514800	Flanking Active TSS	NHEK	skin
14	chr11:86512800-86516000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr11:86512800-86516200	Weak transcription	Fetal Heart	heart
16	chr11:86512800-86516800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:86512800-86517400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:86512800-86518400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr11:86512800-86522800	Weak transcription	Pancreas	Pancrea
20	chr11:86513200-86519200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:86513400-86514600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr11:86513400-86514600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr11:86513400-86515800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:86513400-86517200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:86513400-86520400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:86513600-86514400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:86513600-86514600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:86513600-86515600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:86513600-86515800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:86513600-86517600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:86513600-86518600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:86513600-86518600	Weak transcription	Lung	lung
33	chr11:86513600-86525600	Weak transcription	Colonic Mucosa	Colon
34	chr11:86513800-86514400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr11:86513800-86514400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr11:86513800-86515000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr11:86513800-86515200	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr11:86513800-86515600	Weak transcription	HSMMtube	muscle
39	chr11:86513800-86515800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:86513800-86516200	Weak transcription	Adipose Nuclei	Adipose
41	chr11:86513800-86522200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:86513800-86522600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:86514000-86514400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr11:86514000-86514400	Flanking Active TSS	A549	lung
45	chr11:86514000-86514400	Flanking Active TSS	Hela-S3	cervix
46	chr11:86514000-86514600	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr11:86514000-86514600	Enhancers	HSMM	muscle
48	chr11:86514000-86516000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr11:86514000-86516000	Weak transcription	Ovary	ovary
50	chr11:86514000-86516000	Weak transcription	Right Atrium	heart

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