Variant report

Variant	esv3464878
Chromosome Location	chr4:21160939-21167125
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	chr4:21159106..21161937-chr4:21165905..21168685,2	MCF-7	breast:
2	chr4:21159106..21161937-chr4:21165905..21168685,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146172312	chr4:21160979-21160980	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs139115038	chr4:21160995-21160996	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs201918233	chr4:21161003-21161004	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375875925	chr4:21161006-21161007	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs368687047	chr4:21161007-21161008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs542689146	chr4:21161067-21161068	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs560860090	chr4:21161070-21161071	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs528286010	chr4:21161077-21161078	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376814720	chr4:21161174-21161175	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs369709349	chr4:21161194-21161195	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs373973682	chr4:21166859-21166860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373791810	chr4:21166941-21166942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13127911	chr4:21167027-21167028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538397549	chr4:21167032-21167033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368775846	chr4:21167054-21167055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371469159	chr4:21167095-21167096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375755250	chr4:21167096-21167097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368889612	chr4:21167097-21167098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Cancer	22183965	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21160800-21161200	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr4:21166400-21169800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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