Variant report

Variant	esv3466190
Chromosome Location	chr4:127640245-127640795
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:127638974..127640928-chr4:127641015..127644597,3	K562	blood:
2	chr4:127638496..127641456-chr4:127876411..127877938,2	K562	blood:
3	chr4:127640714..127642968-chr4:127649677..127651591,2	K562	blood:
4	chr4:127632932..127635040-chr4:127639597..127642063,2	K562	blood:
5	chr4:127587813..127589490-chr4:127637912..127640356,2	K562	blood:
6	chr4:127639635..127641216-chr4:127646966..127649464,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531670579	chr4:127640257-127640258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543601158	chr4:127640267-127640268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561887753	chr4:127640270-127640271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528964180	chr4:127640272-127640273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547500104	chr4:127640276-127640277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs36062249	chr4:127640283-127640284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192218644	chr4:127640298-127640299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550113226	chr4:127640341-127640342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77477543	chr4:127640363-127640364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149744215	chr4:127640380-127640381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145585761	chr4:127640386-127640387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563313867	chr4:127640388-127640389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555510244	chr4:127640393-127640394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4330366	chr4:127640394-127640395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201367804	chr4:127640448-127640449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567532790	chr4:127640484-127640485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569982370	chr4:127640535-127640536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184599881	chr4:127640543-127640544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578082985	chr4:127640590-127640591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545063665	chr4:127640592-127640593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370758778	chr4:127640645-127640646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564904146	chr4:127640667-127640668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557333227	chr4:127640681-127640682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57101295	chr4:127640683-127640684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189386316	chr4:127640696-127640697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558671485	chr4:127640719-127640720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116910614	chr4:127640722-127640723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377469546	chr4:127640726-127640727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534852306	chr4:127640769-127640770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73846081	chr4:127640777-127640778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs541276434	chr4:127640785-127640786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79520215	chr4:127640786-127640787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	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
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127637200-127647200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr4:127639600-127647400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr4:127640000-127641000	Weak transcription	K562	blood
4	chr4:127640200-127640600	Weak transcription	Fetal Lung	lung
5	chr4:127640600-127642200	Enhancers	Fetal Lung	lung

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