Variant report

Variant	esv3464514
Chromosome Location	chr4:91930720-91933834
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565888930	chr4:91930762-91930763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536572993	chr4:91930791-91930792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530821561	chr4:91930804-91930805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550933456	chr4:91930846-91930847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187560785	chr4:91930869-91930870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533190113	chr4:91930991-91930992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546837981	chr4:91931005-91931006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566922774	chr4:91931012-91931013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567290642	chr4:91931018-91931019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149053541	chr4:91931032-91931033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62309833	chr4:91931071-91931072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs114004818	chr4:91931084-91931085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193028067	chr4:91931090-91931091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558066643	chr4:91931094-91931095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185562829	chr4:91931118-91931119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540402745	chr4:91931140-91931141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554079164	chr4:91931240-91931241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572847079	chr4:91931287-91931288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577652867	chr4:91931300-91931301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375395001	chr4:91931338-91931339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143052146	chr4:91931410-91931411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561713938	chr4:91931414-91931415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530554383	chr4:91931419-91931420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544495510	chr4:91931458-91931459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148191424	chr4:91931490-91931491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78479336	chr4:91931500-91931501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1599455	chr4:91931508-91931509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs200343820	chr4:91931558-91931559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201149847	chr4:91931559-91931560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546734502	chr4:91931634-91931635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189037499	chr4:91931640-91931641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529378517	chr4:91931656-91931657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140415529	chr4:91931669-91931670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569210548	chr4:91931670-91931671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192491139	chr4:91931751-91931752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183579430	chr4:91931813-91931814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571576674	chr4:91931889-91931890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2199391	chr4:91931940-91931941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554336071	chr4:91931958-91931959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113438667	chr4:91931980-91931981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572241678	chr4:91932033-91932034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574201822	chr4:91932077-91932078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535513760	chr4:91932124-91932125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529976166	chr4:91932166-91932167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575427387	chr4:91932196-91932197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12374338	chr4:91932206-91932207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs564074393	chr4:91932270-91932271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577969351	chr4:91932302-91932303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72667512	chr4:91932333-91932334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560290158	chr4:91932355-91932356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Multiple myeloma	17550852	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
Obesity	20622171	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Esophageal adenocarcinoma	18519675	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91924800-91933400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:91930400-91932600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:91932600-91933000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:91933600-91933800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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