Variant report

Variant	nsv968005
Chromosome Location	chr4:94816246-94820224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:94809463..94811409-chr4:94820137..94822795,2	K562	blood:
2	chr4:94818426..94818969-chr4:95048490..95049106,2	K562	blood:
3	chr4:94818194..94819480-chr4:95047856..95049178,6	MCF-7	breast:

Extended variants
information (count: 150 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549513587	chr4:94816249-94816250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569610368	chr4:94816269-94816270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75408381	chr4:94816287-94816288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76777079	chr4:94816290-94816291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577694945	chr4:94816315-94816316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201270801	chr4:94816452-94816453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191386882	chr4:94816473-94816474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553606376	chr4:94816475-94816476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573635442	chr4:94816514-94816515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148033765	chr4:94816517-94816518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572196831	chr4:94816534-94816535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141055112	chr4:94816588-94816589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575978893	chr4:94816665-94816666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9998896	chr4:94816722-94816723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564175899	chr4:94816726-94816727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545639168	chr4:94816835-94816836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533171811	chr4:94816837-94816838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184638759	chr4:94816866-94816867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546946716	chr4:94816903-94816904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144843263	chr4:94816958-94816959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529378584	chr4:94816964-94816965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149656827	chr4:94816986-94816987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111881728	chr4:94816989-94816990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549357736	chr4:94817092-94817093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187950563	chr4:94817093-94817094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538569626	chr4:94817098-94817099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193258331	chr4:94817101-94817102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185023429	chr4:94817125-94817126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373603298	chr4:94817134-94817135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138762626	chr4:94817161-94817162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532567976	chr4:94817190-94817191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59979382	chr4:94817199-94817200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533554882	chr4:94817225-94817226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367687121	chr4:94817241-94817242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372344856	chr4:94817249-94817250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190310884	chr4:94817315-94817316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536345710	chr4:94817322-94817323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35924842	chr4:94817339-94817340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575817338	chr4:94817373-94817374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57626516	chr4:94817449-94817450	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558448831	chr4:94817465-94817466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572263069	chr4:94817480-94817481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540308658	chr4:94817502-94817503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2033782	chr4:94817512-94817513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529396079	chr4:94817544-94817545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150714130	chr4:94817545-94817546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs137933809	chr4:94817551-94817552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531962551	chr4:94817575-94817576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551956062	chr4:94817602-94817603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571981527	chr4:94817697-94817698	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
Pancreatic cancer	17952125	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	20502679	CNVD
Glioma	20126413	CNVD
Cancer	20164919	CNVD
Sinonasal adenocarcinoma	21360264	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:94816000-94817600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:94816200-94816600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr4:94817600-94818600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:94818400-94818800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:94818400-94818800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:94818400-94818800	Enhancers	Brain Germinal Matrix	brain
7	chr4:94818600-94819000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr4:94818600-94820600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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