Variant report

Variant	esv3397514
Chromosome Location	chr4:55997895-55999893
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12331597	chr4:55997914-55997915	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6835587	chr4:55997924-55997925	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544192013	chr4:55997934-55997935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547573176	chr4:55998009-55998010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12331538	chr4:55998086-55998087	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs79210355	chr4:55998087-55998088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539742027	chr4:55998119-55998120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10026340	chr4:55998136-55998137	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs376505396	chr4:55998141-55998142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559926118	chr4:55998235-55998236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112222444	chr4:55998280-55998281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552039729	chr4:55998310-55998311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571885545	chr4:55998329-55998330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537824330	chr4:55998346-55998347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112346719	chr4:55998362-55998363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200679191	chr4:55998380-55998381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560779537	chr4:55998381-55998382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79742175	chr4:55998392-55998393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188227857	chr4:55998403-55998404	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62304730	chr4:55998433-55998434	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs202212047	chr4:55998455-55998456	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567214963	chr4:55998475-55998476	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180983520	chr4:55998508-55998509	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184811856	chr4:55998516-55998517	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572630160	chr4:55998519-55998520	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190456545	chr4:55998548-55998549	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs56104237	chr4:55998590-55998591	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71202492	chr4:55998591-55998592	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368229208	chr4:55998622-55998623	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544856949	chr4:55998745-55998746	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558293646	chr4:55998747-55998748	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181641290	chr4:55998842-55998843	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373589438	chr4:55998889-55998890	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186758889	chr4:55998902-55998903	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561034541	chr4:55998906-55998907	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs367762337	chr4:55998938-55998939	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573967934	chr4:55998983-55998984	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543074174	chr4:55999057-55999058	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs138483282	chr4:55999080-55999081	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs528562827	chr4:55999108-55999109	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs551927489	chr4:55999141-55999142	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs565435050	chr4:55999181-55999182	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs17711225	chr4:55999185-55999186	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551247991	chr4:55999222-55999223	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs192062201	chr4:55999230-55999231	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs536220348	chr4:55999237-55999238	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs142524344	chr4:55999238-55999239	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs566143213	chr4:55999248-55999249	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs538316349	chr4:55999253-55999254	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs564677988	chr4:55999288-55999289	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Hodgkin''s lymphoma	17606441	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	22183965	CNVD
Autism	22543975	CNVD
Breast cancer	21785460	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55996800-55998400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr4:55997400-55998400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:55997400-55999200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:55997400-55999200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr4:55997600-55998000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:55997600-55998000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr4:55997600-55998600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr4:55997800-55999000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:55997800-55999000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:55997800-56003000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:55998000-55999000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:55998000-55999200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr4:55998400-55999200	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr4:55998400-55999400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:55998600-55999000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:55999000-55999200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr4:55999000-55999600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:55999000-55999600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:55999000-56000200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:55999000-56000400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:55999000-56000600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr4:55999200-55999600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:55999200-55999600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr4:55999200-55999600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr4:55999200-55999600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr4:55999200-56000200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr4:55999400-56000600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:55999600-56000000	Enhancers	H1 Cell Line	embryonic stem cell
29	chr4:55999600-56000400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:55999600-56000600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr4:55999600-56000600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr4:55999600-56002000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:55999600-56020600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr4:55999800-56001200	Enhancers	Fetal Lung	lung

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