Variant report

Variant	nsv594908
Chromosome Location	chr4:96246461-96247297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10002089	chr4:96246461-96246462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs17023534	chr4:96246506-96246507	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560615886	chr4:96246612-96246613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573906803	chr4:96246661-96246662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200607543	chr4:96246666-96246667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145939615	chr4:96246674-96246675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562939961	chr4:96246697-96246698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs72891963	chr4:96246727-96246728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148623163	chr4:96246805-96246806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117668626	chr4:96246876-96246877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs2626034	chr4:96246887-96246888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs35733261	chr4:96246965-96246966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192751874	chr4:96246970-96246971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536738960	chr4:96247007-96247008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28526447	chr4:96247011-96247012	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539629738	chr4:96247020-96247021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142061197	chr4:96247040-96247041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547316046	chr4:96247069-96247070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538952446	chr4:96247119-96247120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151161527	chr4:96247145-96247146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571724987	chr4:96247152-96247153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534280237	chr4:96247184-96247185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554247597	chr4:96247191-96247192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182467483	chr4:96247226-96247227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149999978	chr4:96247231-96247232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565657575	chr4:96247237-96247238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552837789	chr4:96247241-96247242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs66536449	chr4:96247258-96247259	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs547883887	chr4:96247268-96247269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569688463	chr4:96247270-96247271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563134794	chr4:96247280-96247281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96223000-96252400	Weak transcription	Fetal Lung	lung
2	chr4:96239600-96250000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:96239600-96284400	Weak transcription	Aorta	Aorta
4	chr4:96240600-96248200	Weak transcription	Brain Anterior Caudate	brain
5	chr4:96240800-96246800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:96241000-96260800	Weak transcription	Brain Substantia Nigra	brain
7	chr4:96241000-96267600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:96242000-96260200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:96242800-96246800	Weak transcription	Brain Angular Gyrus	brain
10	chr4:96243000-96259600	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:96243400-96263200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:96246200-96255000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:96246800-96247200	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:96246800-96247600	Enhancers	Brain Angular Gyrus	brain
15	chr4:96247200-96247600	Enhancers	HUVEC	blood vessel
16	chr4:96247200-96265000	Weak transcription	Brain Cingulate Gyrus	brain

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