Variant report

Variant	esv3431304
Chromosome Location	chr4:96295779-96299277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:96294611..96296787-chr4:96298081..96299849,2	K562	blood:
2	chr4:96294611..96296787-chr4:96298081..96299849,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573329756	chr4:96295779-96295780	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549733310	chr4:96295800-96295801	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562459397	chr4:96295821-96295822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182668132	chr4:96295881-96295882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368729597	chr4:96295896-96295897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544484203	chr4:96295929-96295930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564663048	chr4:96295998-96295999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112876575	chr4:96296027-96296028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12650055	chr4:96296042-96296043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567940472	chr4:96296066-96296067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186807342	chr4:96296082-96296083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17023649	chr4:96296083-96296084	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12650061	chr4:96296086-96296087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529342447	chr4:96296095-96296096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553263331	chr4:96296124-96296125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2621455	chr4:96296134-96296135	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs141894788	chr4:96296159-96296160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538295074	chr4:96296208-96296209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557038511	chr4:96296211-96296212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551573265	chr4:96296250-96296251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535068458	chr4:96296262-96296263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571155159	chr4:96296291-96296292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185622261	chr4:96296359-96296360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188948027	chr4:96296363-96296364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76447691	chr4:96296383-96296384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573563447	chr4:96296406-96296407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193062870	chr4:96296422-96296423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184463521	chr4:96296461-96296462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576067453	chr4:96296470-96296471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545129790	chr4:96296491-96296492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556743056	chr4:96296507-96296508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564828273	chr4:96296568-96296569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116785202	chr4:96296607-96296608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540816502	chr4:96296643-96296644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553395752	chr4:96296701-96296702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575236087	chr4:96296783-96296784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545914638	chr4:96296805-96296806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549114619	chr4:96296811-96296812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368445030	chr4:96296847-96296848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562940398	chr4:96296861-96296862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188913364	chr4:96296880-96296881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146181574	chr4:96296888-96296889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573586848	chr4:96296893-96296894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375616835	chr4:96296946-96296947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564050570	chr4:96296950-96296951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2621454	chr4:96296995-96296996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567226428	chr4:96297032-96297033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181360839	chr4:96297044-96297045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183824832	chr4:96297045-96297046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140608477	chr4:96297052-96297053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96285200-96334600	Weak transcription	Aorta	Aorta
2	chr4:96285800-96305400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:96293400-96298000	Weak transcription	Brain Angular Gyrus	brain
4	chr4:96293400-96298200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr4:96293400-96303400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:96293600-96298000	Weak transcription	Brain Anterior Caudate	brain
7	chr4:96293600-96298200	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:96294200-96297800	Weak transcription	Brain Substantia Nigra	brain
9	chr4:96294800-96298000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr4:96295200-96298000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:96295400-96296400	Enhancers	Fetal Kidney	kidney
12	chr4:96295400-96302400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:96295400-96302400	Weak transcription	Fetal Lung	lung
14	chr4:96295600-96295800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:96295600-96296000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr4:96295800-96305400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:96296400-96316000	Weak transcription	Fetal Kidney	kidney
18	chr4:96297800-96298800	Enhancers	Brain Substantia Nigra	brain
19	chr4:96298000-96298400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:96298000-96298400	Enhancers	Brain Anterior Caudate	brain
21	chr4:96298000-96298600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr4:96298000-96298800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:96298000-96299000	Enhancers	Brain Angular Gyrus	brain
24	chr4:96298000-96299000	Enhancers	Brain Cingulate Gyrus	brain
25	chr4:96298200-96299000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr4:96298200-96299200	Enhancers	Brain Hippocampus Middle	brain
27	chr4:96298400-96299000	Enhancers	Fetal Brain Female	brain
28	chr4:96298400-96303800	Weak transcription	Brain Anterior Caudate	brain
29	chr4:96298600-96303800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:96298800-96300400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:96298800-96303000	Weak transcription	Brain Substantia Nigra	brain
32	chr4:96299000-96303800	Weak transcription	Brain Angular Gyrus	brain
33	chr4:96299000-96305600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:96299000-96310200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:96299200-96303800	Weak transcription	Brain Hippocampus Middle	brain

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