Variant report

Variant	esv3462829
Chromosome Location	chr11:76142328-76148554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:76130194..76132353-chr11:76143690..76145227,2	MCF-7	breast:
2	chr11:76124586..76126636-chr11:76140269..76143328,3	MCF-7	breast:
3	chr11:76142850..76144735-chr11:76148116..76151075,2	K562	blood:
4	chr11:76142495..76147142-chr11:76151618..76156672,5	MCF-7	breast:
5	chr11:76135625..76138105-chr11:76141929..76143509,2	K562	blood:
6	chr11:76142850..76144735-chr11:76148116..76151075,2	K562	blood:
7	chr11:76142363..76145168-chr11:76153967..76155892,2	K562	blood:

Variant related genes	Relation type
ENSG00000158636	chromatin interactions
ENSG00000255135	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192437493	chr11:76142389-76142390	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs74575171	chr11:76142401-76142402	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs559811204	chr11:76142424-76142425	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184849469	chr11:76142479-76142480	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372472796	chr11:76142528-76142529	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs138642344	chr11:76142564-76142565	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564892662	chr11:76142584-76142585	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529653526	chr11:76142620-76142621	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs188925423	chr11:76142629-76142630	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs10899214	chr11:76142652-76142653	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144224508	chr11:76142658-76142659	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs202185599	chr11:76142695-76142696	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs181614294	chr11:76142708-76142709	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552486858	chr11:76142725-76142726	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs548878067	chr11:76142735-76142736	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565773924	chr11:76142767-76142768	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs185219681	chr11:76142781-76142782	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148724272	chr11:76142782-76142783	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs189721076	chr11:76142792-76142793	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs181357290	chr11:76142793-76142794	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs557619304	chr11:76142872-76142873	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs185237036	chr11:76142911-76142912	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs570678956	chr11:76143004-76143005	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs10793164	chr11:76143019-76143020	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553386482	chr11:76143050-76143051	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs189976156	chr11:76143074-76143075	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs573007443	chr11:76143171-76143172	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs368571522	chr11:76143177-76143178	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs181892344	chr11:76143203-76143204	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs568451229	chr11:76143209-76143210	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs535990590	chr11:76143222-76143223	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs141980786	chr11:76143230-76143231	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs544248615	chr11:76143242-76143243	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs563623433	chr11:76143248-76143249	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs529132565	chr11:76143250-76143251	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs111448208	chr11:76143262-76143263	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs113582351	chr11:76143267-76143268	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs541847047	chr11:76143410-76143411	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs528242959	chr11:76143431-76143432	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs80330016	chr11:76143462-76143463	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs4945089	chr11:76143472-76143473	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs79937892	chr11:76143533-76143534	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs146322412	chr11:76143548-76143549	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs112567003	chr11:76143560-76143561	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs558910419	chr11:76143580-76143581	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs567952336	chr11:76143582-76143583	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs536503676	chr11:76143598-76143599	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs11236750	chr11:76143599-76143600	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs186576373	chr11:76143613-76143614	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs11236751	chr11:76143633-76143634	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76143600-76143800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:76143600-76143800	Enhancers	Aorta	Aorta
3	chr11:76143800-76144000	ZNF genes & repeats	Aorta	Aorta
4	chr11:76143800-76144000	Enhancers	Left Ventricle	heart
5	chr11:76144000-76154000	Weak transcription	Left Ventricle	heart
6	chr11:76145600-76153600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:76146000-76152400	Weak transcription	Fetal Intestine Small	intestine
8	chr11:76147000-76147600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:76147200-76148600	Enhancers	K562	blood
10	chr11:76147600-76150800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:76147600-76154400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:76148000-76154400	Weak transcription	HSMM	muscle
13	chr11:76148200-76154600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:76148400-76148600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:76148400-76148600	Enhancers	Fetal Heart	heart
16	chr11:76148400-76148600	Enhancers	Right Ventricle	heart
17	chr11:76148400-76148600	Active TSS	Stomach Smooth Muscle	stomach

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