Variant report

Variant	esv3380342
Chromosome Location	chr11:45952168-45952713
allele	n/a
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45949947..45952714-chr11:45954303..45955932,2	MCF-7	breast:
2	chr11:45952509..45955320-chr11:46263473..46266230,2	MCF-7	breast:
3	chr11:45950793..45953982-chr11:45956779..45958840,3	MCF-7	breast:
4	chr11:45949887..45952560-chr11:46020571..46022730,2	K562	blood:
5	chr11:45952614..45954812-chr11:45958879..45961272,2	K562	blood:
6	chr11:45867884..45870625-chr11:45950267..45953158,3	MCF-7	breast:
7	chr11:45952136..45954051-chr11:45957421..45959854,3	MCF-7	breast:
8	chr11:45952006..45954841-chr11:45955334..45958699,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000135365	chromatin interactions
ENSG00000121671	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543701313	chr11:45952182-45952183	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs552982546	chr11:45952225-45952226	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs368556251	chr11:45952233-45952234	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs569005591	chr11:45952287-45952288	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs558820555	chr11:45952292-45952293	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs2863714	chr11:45952311-45952312	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs544736767	chr11:45952340-45952341	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs181516764	chr11:45952378-45952379	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs574748626	chr11:45952385-45952386	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs540670897	chr11:45952418-45952419	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs114914523	chr11:45952422-45952423	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs532878302	chr11:45952424-45952425	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs545955481	chr11:45952439-45952440	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562765556	chr11:45952447-45952448	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567891716	chr11:45952456-45952457	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs61505607	chr11:45952457-45952458	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs530475936	chr11:45952458-45952459	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs550272279	chr11:45952465-45952466	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs567397243	chr11:45952491-45952492	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs529654304	chr11:45952498-45952499	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs151279777	chr11:45952523-45952524	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs561805713	chr11:45952532-45952533	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569737461	chr11:45952554-45952555	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs78566865	chr11:45952568-45952569	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs143878034	chr11:45952594-45952595	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs538949684	chr11:45952598-45952599	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs558754903	chr11:45952631-45952632	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs569073969	chr11:45952660-45952661	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs538299756	chr11:45952668-45952669	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554755163	chr11:45952685-45952686	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45941200-45953400	Weak transcription	Dnd41	blood
2	chr11:45944800-45955200	Weak transcription	Ovary	ovary
3	chr11:45945000-45953200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:45945200-45952600	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:45945200-45953000	Weak transcription	Brain Anterior Caudate	brain
6	chr11:45945200-45953200	Weak transcription	Liver	Liver
7	chr11:45945200-45954400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:45945200-45955000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:45945200-45955200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:45945200-45969400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr11:45946400-45953000	Weak transcription	Right Atrium	heart
12	chr11:45946600-45952200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:45946800-45952200	Weak transcription	Fetal Brain Female	brain
14	chr11:45947400-45953600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:45947600-45953000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:45947600-45953200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:45947800-45952600	Enhancers	Placenta	Placenta
18	chr11:45947800-45952800	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:45948200-45954800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:45948600-45953000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:45948800-45957000	Weak transcription	NH-A	brain
22	chr11:45949000-45953800	Weak transcription	Osteobl	bone
23	chr11:45949200-45953400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:45949200-45954800	Strong transcription	Fetal Stomach	stomach
25	chr11:45949200-45956400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:45949400-45957000	Enhancers	HMEC	breast
27	chr11:45949600-45953400	Weak transcription	Adipose Nuclei	Adipose
28	chr11:45949600-45956600	Weak transcription	NHDF-Ad	bronchial
29	chr11:45949800-45956800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:45950000-45952400	Weak transcription	NHLF	lung
31	chr11:45950000-45954600	Weak transcription	Brain Substantia Nigra	brain
32	chr11:45950200-45953000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:45950200-45953200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr11:45950200-45953200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:45950200-45956200	Weak transcription	Fetal Lung	lung
36	chr11:45950200-45960000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:45950400-45952200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr11:45950400-45952600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:45950400-45953600	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr11:45950400-45953600	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:45950600-45952600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:45950600-45953000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr11:45950600-45953200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:45950600-45953400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:45950600-45955600	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr11:45950600-45955600	Weak transcription	Brain Angular Gyrus	brain
47	chr11:45950800-45952400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:45950800-45952800	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr11:45950800-45954000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:45950800-45954000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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