Variant report

Variant	esv3455786
Chromosome Location	chr11:5497897-5498595
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5497160..5498060-chr11:5733696..5734321,2	MCF-7	breast:
2	chr11:5497248..5498209-chr11:5574259..5575206,2	MCF-7	breast:
3	chr11:5497034..5498024-chr11:5574302..5575107,2	K562	blood:
4	chr11:5495902..5498056-chr11:5528624..5530826,2	K562	blood:
5	chr11:5494329..5498413-chr11:5524095..5528083,5	K562	blood:
6	chr11:5492428..5495809-chr11:5496479..5499256,6	K562	blood:
7	chr11:5402164..5402741-chr11:5497230..5497968,2	MCF-7	breast:
8	chr11:5497566..5498122-chr11:5575583..5576306,2	MCF-7	breast:
9	chr11:5495751..5498334-chr11:5524095..5527159,4	K562	blood:
10	chr11:5497451..5498014-chr11:5829478..5830015,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196565	chromatin interactions
ENSG00000167355	chromatin interactions
ENSG00000213931	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114227352	chr11:5497953-5497954	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs573811826	chr11:5497955-5497956	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs544270776	chr11:5497960-5497961	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs556327180	chr11:5497975-5497976	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs577723003	chr11:5498023-5498024	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs150826014	chr11:5498043-5498044	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs560098004	chr11:5498078-5498079	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs139278949	chr11:5498098-5498099	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs111934056	chr11:5498142-5498143	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs36109368	chr11:5498160-5498161	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs4076680	chr11:5498161-5498162	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs200344491	chr11:5498163-5498164	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs549080139	chr11:5498181-5498182	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs528791427	chr11:5498234-5498235	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs549567818	chr11:5498240-5498241	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs571307391	chr11:5498270-5498271	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs548672230	chr11:5498271-5498272	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs551926634	chr11:5498273-5498274	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs568947982	chr11:5498275-5498276	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs566858139	chr11:5498297-5498298	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs188300918	chr11:5498303-5498304	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs540610149	chr11:5498311-5498312	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs567275383	chr11:5498327-5498328	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs28532721	chr11:5498334-5498335	Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs556423658	chr11:5498342-5498343	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs578048786	chr11:5498347-5498348	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs544905157	chr11:5498351-5498352	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs553918833	chr11:5498357-5498358	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs565567840	chr11:5498385-5498386	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs189531007	chr11:5498387-5498388	Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs572387648	chr11:5498415-5498416	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182268993	chr11:5498426-5498427	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560873132	chr11:5498436-5498437	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531372067	chr11:5498449-5498450	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543400411	chr11:5498454-5498455	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7106115	chr11:5498515-5498516	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs532436844	chr11:5498533-5498534	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532217069	chr11:5498535-5498536	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs449825	chr11:5498551-5498552	Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs571606214	chr11:5498552-5498553	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11037665	chr11:5498569-5498570	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571508535	chr11:5498582-5498583	Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5497600-5498600	Genic enhancers	K562	blood

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