Variant report

Variant	esv3344345
Chromosome Location	chr4:80687822-80710071
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	chr4:80619168..80620918-chr4:80690936..80692886,2	K562	blood:

Extended variants
information (count: 470 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562530506	chr4:80691228-80691229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188055161	chr4:80691229-80691230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181300199	chr4:80691254-80691255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561904063	chr4:80691255-80691256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527575540	chr4:80691293-80691294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202085330	chr4:80691348-80691349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547696369	chr4:80691349-80691350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12510495	chr4:80691393-80691394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs12502574	chr4:80691402-80691403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs552161270	chr4:80691462-80691463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35905284	chr4:80691499-80691500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375767524	chr4:80691501-80691502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537992189	chr4:80691525-80691526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114374961	chr4:80691554-80691555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568346771	chr4:80691560-80691561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62299775	chr4:80691563-80691564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554413382	chr4:80691611-80691612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571067177	chr4:80691622-80691623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539371898	chr4:80691634-80691635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367635413	chr4:80691644-80691645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556240779	chr4:80691646-80691647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186224366	chr4:80691659-80691660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148516360	chr4:80691683-80691684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142771113	chr4:80691718-80691719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190335054	chr4:80691748-80691749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79502101	chr4:80691780-80691781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572176144	chr4:80691787-80691788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7686303	chr4:80691849-80691850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs367970467	chr4:80691910-80691911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565991932	chr4:80691980-80691981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545786587	chr4:80692046-80692047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181486976	chr4:80692053-80692054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76271317	chr4:80692073-80692074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531673094	chr4:80692124-80692125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551676661	chr4:80692129-80692130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373364822	chr4:80692141-80692142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568477955	chr4:80692220-80692221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371923708	chr4:80692277-80692278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377623318	chr4:80692330-80692331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147862263	chr4:80692357-80692358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571119868	chr4:80692372-80692373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375068951	chr4:80692403-80692404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375158325	chr4:80692434-80692435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139756153	chr4:80692446-80692447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568503591	chr4:80692456-80692457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536730434	chr4:80692543-80692544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6820097	chr4:80692549-80692550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs145244208	chr4:80692557-80692558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111793306	chr4:80692561-80692562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555465699	chr4:80692581-80692582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelodysplastic syndrome	18508791	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80691200-80697200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:80697200-80697400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:80697400-80701800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:80701800-80702000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:80703600-80704200	Enhancers	Colon Smooth Muscle	Colon
6	chr4:80703600-80704200	Enhancers	Fetal Brain Female	brain
7	chr4:80709800-80711200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:80709800-80711800	ZNF genes & repeats	Dnd41	blood
9	chr4:80710000-80710400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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