Variant report

Variant	esv3468340
Chromosome Location	chr4:93568136-93570434
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180812047	chr4:93568173-93568174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185431478	chr4:93568195-93568196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554872101	chr4:93568208-93568209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574582561	chr4:93568209-93568210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537194471	chr4:93568222-93568223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111876974	chr4:93568238-93568239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190987604	chr4:93568261-93568262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61427955	chr4:93568262-93568263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183396008	chr4:93568266-93568267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565156449	chr4:93568278-93568279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572256400	chr4:93568404-93568405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372230247	chr4:93568458-93568459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374531962	chr4:93568459-93568460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17842180	chr4:93568550-93568551	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561109707	chr4:93568632-93568633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576884379	chr4:93568633-93568634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549930853	chr4:93568678-93568679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563258882	chr4:93568738-93568739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145472058	chr4:93568783-93568784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs137996097	chr4:93568838-93568839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545931941	chr4:93568842-93568843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566322125	chr4:93568888-93568889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142070820	chr4:93568901-93568902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548760276	chr4:93568903-93568904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376326830	chr4:93568905-93568906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79727218	chr4:93568918-93568919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537129139	chr4:93568941-93568942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574370233	chr4:93568948-93568949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556999119	chr4:93568958-93568959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201678275	chr4:93568960-93568961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188177180	chr4:93568974-93568975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552920949	chr4:93569030-93569031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146328833	chr4:93569039-93569040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542143567	chr4:93569057-93569058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564040547	chr4:93569106-93569107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11734654	chr4:93569160-93569161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191956654	chr4:93569276-93569277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572297918	chr4:93569287-93569288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541017388	chr4:93569322-93569323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113126599	chr4:93569325-93569326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182826913	chr4:93569371-93569372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148097796	chr4:93569413-93569414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543658094	chr4:93569414-93569415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553544187	chr4:93569438-93569439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546462564	chr4:93569445-93569446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564681193	chr4:93569460-93569461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188200472	chr4:93569495-93569496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114564791	chr4:93569530-93569531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576636590	chr4:93569630-93569631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545773578	chr4:93569646-93569647	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:6 , 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	chr4:93568000-93568400	Enhancers	Brain Substantia Nigra	brain
5	chr4:93569400-93575200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:93570400-93571200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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