Variant report

Variant	esv1810361
Chromosome Location	chr2:35976473-36003061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 709 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:709 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375599677	chr2:35977067-35977068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs540437536	chr2:35977080-35977081	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs558979873	chr2:35977154-35977155	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs182102685	chr2:35977173-35977174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs544658073	chr2:35977192-35977193	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs563332812	chr2:35977194-35977195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs530539721	chr2:35977307-35977308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186827336	chr2:35977357-35977358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565744108	chr2:35977411-35977412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560971299	chr2:35977412-35977413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534445132	chr2:35977416-35977417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111722540	chr2:35977553-35977554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146119974	chr2:35977576-35977577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571429615	chr2:35977667-35977668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190900234	chr2:35977671-35977672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550614942	chr2:35977716-35977717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112285278	chr2:35977730-35977731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138960761	chr2:35977732-35977733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183475487	chr2:35977733-35977734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57028831	chr2:35977735-35977736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188000950	chr2:35977749-35977750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142917287	chr2:35977782-35977783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147396522	chr2:35977895-35977896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192870630	chr2:35977900-35977901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556580197	chr2:35977912-35977913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553098612	chr2:35977924-35977925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114216269	chr2:35977952-35977953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185448816	chr2:35977980-35977981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139153531	chr2:35977997-35977998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528222351	chr2:35978018-35978019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540038190	chr2:35978091-35978092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187967141	chr2:35978137-35978138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13007568	chr2:35978183-35978184	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542244823	chr2:35978199-35978200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192913806	chr2:35978200-35978201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183476224	chr2:35978220-35978221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201550161	chr2:35978254-35978255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530028479	chr2:35978301-35978302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12474772	chr2:35978313-35978314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs566607884	chr2:35978327-35978328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534338324	chr2:35978345-35978346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531649303	chr2:35978386-35978387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188208908	chr2:35978392-35978393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371665656	chr2:35978410-35978411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561079729	chr2:35978413-35978414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34758541	chr2:35978437-35978438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538062397	chr2:35978442-35978443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181785997	chr2:35978454-35978455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184653070	chr2:35978468-35978469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190805752	chr2:35978478-35978479	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35977000-35977200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:35977200-35980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:35980000-35984600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:35984600-35985000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:35985000-35986600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:35986600-35987000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:35987000-35990600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:35990600-35991600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:35997000-36004600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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