Variant report

Variant	nsv436959
Chromosome Location	chr4:94535897-94540966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544478797	chr4:94538419-94538420	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs577154739	chr4:94538420-94538421	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs72670689	chr4:94538421-94538422	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs559855937	chr4:94538433-94538434	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs72889179	chr4:94538494-94538495	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs542399269	chr4:94538533-94538534	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs73841811	chr4:94538537-94538538	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531155395	chr4:94538568-94538569	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs551245657	chr4:94538584-94538585	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs563958639	chr4:94538619-94538620	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs72889180	chr4:94538665-94538666	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546306379	chr4:94538673-94538674	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs17356460	chr4:94538720-94538721	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183828540	chr4:94538727-94538728	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs113239174	chr4:94538734-94538735	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs188553651	chr4:94538744-94538745	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs537787615	chr4:94538752-94538753	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs558007996	chr4:94538825-94538826	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs17020861	chr4:94538850-94538851	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73841812	chr4:94538854-94538855	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs180760927	chr4:94538873-94538874	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs577512185	chr4:94538887-94538888	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs142672606	chr4:94538897-94538898	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs573326836	chr4:94538902-94538903	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs545128591	chr4:94538955-94538956	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs542340033	chr4:94538963-94538964	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs555723123	chr4:94538964-94538965	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs111724599	chr4:94538983-94538984	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs148755907	chr4:94539004-94539005	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs544600974	chr4:94539027-94539028	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs199740775	chr4:94539131-94539132	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs1836644	chr4:94539132-94539133	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs58858797	chr4:94539137-94539138	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs113013997	chr4:94539138-94539139	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs539797303	chr4:94539141-94539142	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs182221460	chr4:94539186-94539187	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs528998330	chr4:94539201-94539202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537453119	chr4:94539223-94539224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142160540	chr4:94539238-94539239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10516927	chr4:94539295-94539296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs531504089	chr4:94539307-94539308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs73841813	chr4:94539310-94539311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116149654	chr4:94539331-94539332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151197886	chr4:94539334-94539335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553450587	chr4:94539344-94539345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186947391	chr4:94539356-94539357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566862857	chr4:94539371-94539372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190791131	chr4:94539386-94539387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531646289	chr4:94539391-94539392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535986825	chr4:94539446-94539447	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	20502679	CNVD
early-passage human iPS cells	21368824	CNVD
Glioma	20126413	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94538400-94538600	Enhancers	Brain Angular Gyrus	brain
2	chr4:94538400-94539000	Active TSS	Brain Anterior Caudate	brain
3	chr4:94538400-94539000	Active TSS	Brain Cingulate Gyrus	brain
4	chr4:94538400-94539200	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr4:94538400-94539200	Active TSS	Brain Substantia Nigra	brain
6	chr4:94538600-94539000	Active TSS	Brain Angular Gyrus	brain
7	chr4:94538600-94539000	Active TSS	Brain Hippocampus Middle	brain
8	chr4:94538600-94539400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:94538800-94539400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:94539000-94539200	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr4:94539000-94539200	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr4:94539000-94539600	Enhancers	Brain Angular Gyrus	brain
13	chr4:94539200-94539800	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:94539200-94539800	Enhancers	Brain Substantia Nigra	brain
15	chr4:94539400-94539600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:94539800-94540800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:94540800-94541600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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