Variant report

Variant	nsv873868
Chromosome Location	chr2:35957851-36017688
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1853 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1853 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554624440	chr2:35959400-35959401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111840315	chr2:35959463-35959464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114149816	chr2:35959502-35959503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138569694	chr2:35959507-35959508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373605453	chr2:35959508-35959509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575726772	chr2:35959543-35959544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543139830	chr2:35959578-35959579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561528510	chr2:35959595-35959596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376813490	chr2:35959618-35959619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540848340	chr2:35959622-35959623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559338387	chr2:35959624-35959625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576778399	chr2:35959636-35959637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533265497	chr2:35959645-35959646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144118811	chr2:35959658-35959659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75256284	chr2:35959667-35959668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200934246	chr2:35959675-35959676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537355935	chr2:35959682-35959683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77844368	chr2:35959739-35959740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192083564	chr2:35959802-35959803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567784329	chr2:35959876-35959877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184684361	chr2:35959877-35959878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559063515	chr2:35959878-35959879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77948502	chr2:35959882-35959883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376156501	chr2:35959894-35959895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144320515	chr2:35959898-35959899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549115830	chr2:35959914-35959915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7605522	chr2:35959941-35959942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188655276	chr2:35959943-35959944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575664395	chr2:35959971-35959972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543028117	chr2:35959975-35959976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74459208	chr2:35959981-35959982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573404663	chr2:35959984-35959985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145540063	chr2:35962606-35962607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559600061	chr2:35962607-35962608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs377357764	chr2:35962617-35962618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111883312	chr2:35962627-35962628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548364050	chr2:35962650-35962651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566578029	chr2:35962668-35962669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143284424	chr2:35962688-35962689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552158988	chr2:35962706-35962707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570415669	chr2:35962715-35962716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373705977	chr2:35962799-35962800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537806474	chr2:35962939-35962940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34453263	chr2:35962948-35962949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548304183	chr2:35962950-35962951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151282951	chr2:35962956-35962957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574586861	chr2:35962976-35962977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13399838	chr2:35962983-35962984	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs371442542	chr2:35962990-35962991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13399856	chr2:35963038-35963039	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:35959400-35960000	Enhancers	Fetal Muscle Trunk	muscle
2	chr2:35962600-35963800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:35963600-35963800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr2:35963800-35971600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:35963800-35972000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:35971600-35972000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr2:35972000-35972200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:35977000-35977200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:35977200-35980000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:35980000-35984600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:35984600-35985000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:35985000-35986600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:35986600-35987000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:35987000-35990600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:35990600-35991600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:35997000-36004600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:36004600-36005600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:36005600-36008000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:36008000-36008600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:36008600-36009000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:36008600-36009400	Enhancers	A549	lung
22	chr2:36009000-36009200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:36009200-36011800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:36011800-36016600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:36012000-36012800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:36012200-36013200	Enhancers	HMEC	breast
27	chr2:36012800-36015200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:36013200-36020200	Weak transcription	HMEC	breast
29	chr2:36015200-36015600	Enhancers	Pancreas	Pancrea
30	chr2:36015200-36016000	Enhancers	NHEK	skin
31	chr2:36016000-36016400	Weak transcription	NHEK	skin
32	chr2:36016400-36016600	Enhancers	NHEK	skin
33	chr2:36016600-36017800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:36016600-36019400	Weak transcription	NHEK	skin
35	chr2:36017000-36018200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:36017200-36018400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:36017400-36018200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:36017400-36018400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:36017400-36018600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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