Variant report

Variant	esv1803439
Chromosome Location	chr4:187880690-187899222
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	chr4:187759553..187761639-chr4:187893343..187896166,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 79 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112885722	chr4:187880697-187880698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565330130	chr4:187880698-187880699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112403487	chr4:187880708-187880709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532506682	chr4:187880711-187880712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565444518	chr4:187880717-187880718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113537675	chr4:187880737-187880738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531234248	chr4:187880750-187880751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113726818	chr4:187880756-187880757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576853248	chr4:187880757-187880758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200093335	chr4:187880759-187880760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550634359	chr4:187880766-187880767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377464964	chr4:187880770-187880771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529841049	chr4:187880774-187880775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112975677	chr4:187880777-187880778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557472904	chr4:187880786-187880787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546737575	chr4:187880790-187880791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62345062	chr4:187880797-187880798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562636945	chr4:187880800-187880801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188166828	chr4:187898442-187898443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150632632	chr4:187898454-187898455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10008450	chr4:187898520-187898521	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs572238141	chr4:187898540-187898541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191391156	chr4:187898568-187898569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs376002043	chr4:187898583-187898584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34058005	chr4:187898586-187898587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76315462	chr4:187898605-187898606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568383683	chr4:187898607-187898608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113507739	chr4:187898640-187898641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564581130	chr4:187898644-187898645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112821757	chr4:187898660-187898661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563871300	chr4:187898691-187898692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543933726	chr4:187898704-187898705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144389192	chr4:187898751-187898752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9998172	chr4:187898773-187898774	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs74644622	chr4:187898774-187898775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9998173	chr4:187898778-187898779	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs528057296	chr4:187898786-187898787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551511855	chr4:187898803-187898804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs59364127	chr4:187898836-187898837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs7672831	chr4:187898882-187898883	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs575965596	chr4:187898905-187898906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs59208113	chr4:187899002-187899003	Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs74321400	chr4:187899031-187899032	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs371192050	chr4:187899099-187899100	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs139758208	chr4:187899158-187899159	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs192564608	chr4:187899161-187899162	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs76000566	chr4:187899171-187899172	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs534660950	chr4:187899186-187899187	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs149891098	chr4:187899209-187899210	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs577714906	chr4:187899211-187899212	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Oral cancer	17325662	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187868400-187880800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:187898400-187899400	Enhancers	Fetal Lung	lung
3	chr4:187898800-187899000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:187898800-187900000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:187899000-187899200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:187899000-187899600	Active TSS	NHLF	lung
7	chr4:187899000-187899800	Enhancers	Osteobl	bone
8	chr4:187899200-187899400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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