Variant report

Variant	esv1825720
Chromosome Location	chr4:93847904-93869564
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	chr4:93846312..93847841-chr4:93851226..93853929,2	K562	blood:

Extended variants
information (count: 326 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547664453	chr4:93852024-93852025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538231473	chr4:93852053-93852054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558507065	chr4:93852054-93852055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574248835	chr4:93852057-93852058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541733701	chr4:93852058-93852059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535372670	chr4:93852067-93852068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116181052	chr4:93852073-93852074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113384661	chr4:93852101-93852102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543942474	chr4:93852107-93852108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142093930	chr4:93852127-93852128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533111735	chr4:93852132-93852133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532559798	chr4:93852136-93852137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs190330091	chr4:93852139-93852140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559689671	chr4:93852153-93852154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527635283	chr4:93852206-93852207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181369229	chr4:93852217-93852218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567134844	chr4:93852221-93852222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35197316	chr4:93852260-93852261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs398107659	chr4:93852267-93852268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377018840	chr4:93852268-93852269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185251643	chr4:93852275-93852276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542934521	chr4:93852285-93852286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191193790	chr4:93852295-93852296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201696542	chr4:93852299-93852300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146215177	chr4:93852306-93852307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538714590	chr4:93852374-93852375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74933247	chr4:93852375-93852376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565664736	chr4:93852396-93852397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571825174	chr4:93852399-93852400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150135727	chr4:93864282-93864283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188802938	chr4:93864339-93864340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112645717	chr4:93864340-93864341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555336485	chr4:93864356-93864357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575533536	chr4:93864382-93864383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145578411	chr4:93864386-93864387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564354643	chr4:93864392-93864393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183522744	chr4:93864404-93864405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531580547	chr4:93864456-93864457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540798280	chr4:93864472-93864473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560417661	chr4:93864482-93864483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529380564	chr4:93864498-93864499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549155538	chr4:93864508-93864509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569227064	chr4:93864517-93864518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187472013	chr4:93864534-93864535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557804624	chr4:93864548-93864549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550862080	chr4:93864563-93864564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570684121	chr4:93864568-93864569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539285284	chr4:93864570-93864571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553120893	chr4:93864575-93864576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567084364	chr4:93864580-93864581	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
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
Chronic lymphocytic leukemia	18922857	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
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	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
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93852000-93852400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:93864200-93866800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:93864400-93874200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:93865400-93865800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr4:93865800-93895400	Weak transcription	H1 Cell Line	embryonic stem cell

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