Variant report

Variant	esv1812159
Chromosome Location	chr4:99682175-99688004
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	chr4:99677306..99679346-chr4:99681003..99682727,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535125955	chr4:99686241-99686242	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs143495293	chr4:99686351-99686352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs12501917	chr4:99686361-99686362	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs545960360	chr4:99686425-99686426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs564166733	chr4:99686458-99686459	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs576711123	chr4:99686476-99686477	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs543989822	chr4:99686479-99686480	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs2178126	chr4:99686494-99686495	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147169988	chr4:99686507-99686508	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs547759863	chr4:99686582-99686583	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs2866024	chr4:99686600-99686601	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533153513	chr4:99686601-99686602	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs551465840	chr4:99686604-99686605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs569774757	chr4:99686621-99686622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs534665850	chr4:99686633-99686634	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs537666423	chr4:99686641-99686642	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs190573028	chr4:99686671-99686672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs183816809	chr4:99686758-99686759	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs201806762	chr4:99686766-99686767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs568139964	chr4:99686789-99686790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs4388093	chr4:99686792-99686793	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534618783	chr4:99686807-99686808	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374685974	chr4:99686933-99686934	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74738019	chr4:99687004-99687005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139440194	chr4:99687016-99687017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149667026	chr4:99687020-99687021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557893770	chr4:99687096-99687097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11097632	chr4:99687168-99687169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs188758834	chr4:99687196-99687197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562344121	chr4:99687203-99687204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574144812	chr4:99687240-99687241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541757713	chr4:99687302-99687303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550287884	chr4:99687330-99687331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536166772	chr4:99687344-99687345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144466249	chr4:99687357-99687358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192127442	chr4:99687386-99687387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148794475	chr4:99687407-99687408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554324968	chr4:99687533-99687534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143934540	chr4:99687543-99687544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530939736	chr4:99687549-99687550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1443805	chr4:99687555-99687556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549193906	chr4:99687557-99687558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376779756	chr4:99687568-99687569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568285189	chr4:99687584-99687585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146840418	chr4:99687608-99687609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28591663	chr4:99687614-99687615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs565937740	chr4:99687615-99687616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80186679	chr4:99687720-99687721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557755178	chr4:99687726-99687727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1406034	chr4:99687738-99687739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:77)

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
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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99686200-99686600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:99686200-99687000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:99686800-99687800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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