Variant report

Variant	esv1833145
Chromosome Location	chr4:60293703-60330880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:60301296..60303463-chr4:60317465..60318968,2	K562	blood:
2	chr4:60301296..60303463-chr4:60317465..60318968,2	K562	blood:

Extended variants
information (count: 440 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113059653	chr4:60300603-60300604	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs553649042	chr4:60300609-60300610	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs182422124	chr4:60300741-60300742	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs187031175	chr4:60300763-60300764	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs560738007	chr4:60300785-60300786	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs576062196	chr4:60300896-60300897	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs139548604	chr4:60300929-60300930	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs191956571	chr4:60300941-60300942	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs368287157	chr4:60300948-60300949	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181460428	chr4:60300956-60300957	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111310937	chr4:60300960-60300961	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs563284901	chr4:60300969-60300970	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs185606274	chr4:60300977-60300978	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs149696485	chr4:60300987-60300988	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs190063124	chr4:60300989-60300990	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs73194576	chr4:60300996-60300997	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192967566	chr4:60315000-60315001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6820858	chr4:60315007-60315008	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531591537	chr4:60315010-60315011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556381292	chr4:60315026-60315027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73196606	chr4:60315069-60315070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs377101766	chr4:60315070-60315071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532471426	chr4:60315081-60315082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79277808	chr4:60315114-60315115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551117227	chr4:60315117-60315118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs6827039	chr4:60315125-60315126	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs141210806	chr4:60315171-60315172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75691326	chr4:60315214-60315215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558880044	chr4:60315242-60315243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548986344	chr4:60315246-60315247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77808496	chr4:60315247-60315248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577202787	chr4:60315256-60315257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182993938	chr4:60315273-60315274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556148725	chr4:60315296-60315297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543996746	chr4:60315306-60315307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs137931626	chr4:60315327-60315328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377666841	chr4:60315351-60315352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538747447	chr4:60315352-60315353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6827654	chr4:60315365-60315366	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs376463832	chr4:60315384-60315385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572673816	chr4:60315412-60315413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147135484	chr4:60315473-60315474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1567566	chr4:60315492-60315493	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs1018263	chr4:60315535-60315536	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576695237	chr4:60315542-60315543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543405010	chr4:60315591-60315592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368021294	chr4:60315596-60315597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187335331	chr4:60315611-60315612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532409135	chr4:60315649-60315650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547480859	chr4:60315650-60315651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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	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
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	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
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
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	20369283	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:60300600-60301000	Active TSS	A549	lung
2	chr4:60315000-60315600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr4:60315400-60315600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:60315600-60317800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:60317800-60318000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:60318000-60323000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:60323000-60323400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:60323000-60323800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:60323000-60323800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:60323200-60323400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:60323200-60323600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr4:60323200-60323600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:60323200-60323600	Enhancers	HUES64 Cell Line	embryonic stem cell

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