Variant report

Variant	esv10640
Chromosome Location	chr4:93569065-93570266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564040547	chr4:93569106-93569107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11734654	chr4:93569160-93569161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs191956654	chr4:93569276-93569277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572297918	chr4:93569287-93569288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541017388	chr4:93569322-93569323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113126599	chr4:93569325-93569326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182826913	chr4:93569371-93569372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148097796	chr4:93569413-93569414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543658094	chr4:93569414-93569415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553544187	chr4:93569438-93569439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546462564	chr4:93569445-93569446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564681193	chr4:93569460-93569461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188200472	chr4:93569495-93569496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114564791	chr4:93569530-93569531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576636590	chr4:93569630-93569631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545773578	chr4:93569646-93569647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559131517	chr4:93569654-93569655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62309180	chr4:93569665-93569666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs367775862	chr4:93569678-93569679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201007089	chr4:93569688-93569689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547528414	chr4:93569756-93569757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115859860	chr4:93569808-93569809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34340904	chr4:93569830-93569831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs75993660	chr4:93569881-93569882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570572548	chr4:93569940-93569941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191791929	chr4:93569971-93569972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553331299	chr4:93570068-93570069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116555726	chr4:93570091-93570092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183609933	chr4:93570158-93570159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201475632	chr4:93570163-93570164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186801611	chr4:93570177-93570178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565447851	chr4:93570189-93570190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550893342	chr4:93570247-93570248	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
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	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
Chronic lymphocytic leukemia	21546498	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93550000-93574800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:93552000-93579000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:93554400-93570400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:93569400-93575200	Weak transcription	H9 Cell Line	embryonic stem cell

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