Variant report

Variant	esv3355949
Chromosome Location	chr4:159026802-159030100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 201 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12511713	chr4:159026828-159026829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556834965	chr4:159026829-159026830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547235812	chr4:159026855-159026856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543551412	chr4:159026911-159026912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553267952	chr4:159026925-159026926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572881448	chr4:159026930-159026931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs114980874	chr4:159026948-159026949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75957319	chr4:159027014-159027015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28547578	chr4:159027046-159027047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115937326	chr4:159027050-159027051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71587448	chr4:159027061-159027062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374736908	chr4:159027062-159027063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201054233	chr4:159027076-159027077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62337011	chr4:159027077-159027078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs190569655	chr4:159027078-159027079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562402108	chr4:159027082-159027083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs36128489	chr4:159027083-159027084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530349466	chr4:159027084-159027085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548164246	chr4:159027114-159027115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71587449	chr4:159027115-159027116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570563649	chr4:159027116-159027117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182008671	chr4:159027126-159027127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185054422	chr4:159027145-159027146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200620233	chr4:159027148-159027149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377511329	chr4:159027162-159027163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35367309	chr4:159027163-159027164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs67206939	chr4:159027164-159027165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560810869	chr4:159027179-159027180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545561555	chr4:159027191-159027192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372511274	chr4:159027203-159027204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533187244	chr4:159027204-159027205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199991659	chr4:159027206-159027207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180866921	chr4:159027230-159027231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186359911	chr4:159027236-159027237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551357175	chr4:159027238-159027239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114478192	chr4:159027252-159027253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191278430	chr4:159027259-159027260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536721723	chr4:159027260-159027261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116520662	chr4:159027276-159027277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200490837	chr4:159027290-159027291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs33966115	chr4:159027307-159027308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547951028	chr4:159027310-159027311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62642454	chr4:159027319-159027320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183586179	chr4:159027326-159027327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567196157	chr4:159027335-159027336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536476040	chr4:159027349-159027350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186927337	chr4:159027356-159027357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28973207	chr4:159027378-159027379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191011137	chr4:159027404-159027405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578091587	chr4:159027413-159027414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Autism	20841430	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:159018600-159030000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:159029800-159030000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr4:159030000-159030800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:159030000-159034000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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