Variant report

Variant	esv1799081
Chromosome Location	chr2:35967790-35991580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 593 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576883027	chr2:35967808-35967809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544888774	chr2:35967840-35967841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544230787	chr2:35967853-35967854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11313341	chr2:35967864-35967865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs397872799	chr2:35967870-35967871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562404390	chr2:35967871-35967872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529839349	chr2:35967891-35967892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189165315	chr2:35967898-35967899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560328858	chr2:35967912-35967913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527496750	chr2:35967986-35967987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552025038	chr2:35968008-35968009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10654012	chr2:35968020-35968021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72476934	chr2:35968021-35968022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34276587	chr2:35968022-35968023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570417252	chr2:35968028-35968029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs566944079	chr2:35968064-35968065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs72871363	chr2:35968074-35968075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550186878	chr2:35968102-35968103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114146572	chr2:35968110-35968111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554059001	chr2:35968173-35968174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145982710	chr2:35968190-35968191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567667948	chr2:35968218-35968219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386644811	chr2:35968228-35968229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540063134	chr2:35968281-35968282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13000629	chr2:35968310-35968311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576818281	chr2:35968338-35968339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549346520	chr2:35968343-35968344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs138522881	chr2:35968359-35968360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556192226	chr2:35968372-35968373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185654188	chr2:35968391-35968392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149253759	chr2:35968409-35968410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77826304	chr2:35968429-35968430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144588799	chr2:35968463-35968464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545600703	chr2:35968476-35968477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188846884	chr2:35968506-35968507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180887193	chr2:35968508-35968509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569085266	chr2:35968526-35968527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549882957	chr2:35968545-35968546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148474403	chr2:35968562-35968563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529288500	chr2:35968578-35968579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115922804	chr2:35968583-35968584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13001188	chr2:35968593-35968594	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs199688162	chr2:35968638-35968639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557155608	chr2:35968655-35968656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12477575	chr2:35968672-35968673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12477576	chr2:35968675-35968676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114160082	chr2:35968687-35968688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578260048	chr2:35968745-35968746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537778324	chr2:35968750-35968751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185968610	chr2:35968776-35968777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35963800-35971600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:35963800-35972000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:35971600-35972000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:35972000-35972200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:35977000-35977200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:35977200-35980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:35980000-35984600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:35984600-35985000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:35985000-35986600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:35986600-35987000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:35987000-35990600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:35990600-35991600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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