Variant report

Variant	esv21089
Chromosome Location	chr4:21118712-21119251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537793762	chr4:21118817-21118818	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs532674089	chr4:21118822-21118823	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs368021957	chr4:21118829-21118830	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs5027019	chr4:21118914-21118915	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544369201	chr4:21118915-21118916	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs386672385	chr4:21118923-21118924	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs372039728	chr4:21118924-21118925	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs112144327	chr4:21118929-21118930	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs142384595	chr4:21118930-21118931	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs372855474	chr4:21118934-21118935	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs562663166	chr4:21118936-21118937	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs59872714	chr4:21118937-21118938	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566675688	chr4:21118938-21118939	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs187128287	chr4:21118953-21118954	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs9685659	chr4:21118965-21118966	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114901294	chr4:21118968-21118969	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs571335480	chr4:21119001-21119002	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs146036744	chr4:21119033-21119034	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs557076748	chr4:21119064-21119065	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs9683640	chr4:21119102-21119103	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs7661722	chr4:21119104-21119105	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs569071318	chr4:21119106-21119107	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs536452695	chr4:21119116-21119117	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs559700750	chr4:21119127-21119128	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs192409088	chr4:21119148-21119149	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs139999883	chr4:21119214-21119215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533614871	chr4:21119216-21119217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116710919	chr4:21119225-21119226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77219537	chr4:21119239-21119240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21115000-21119800	Weak transcription	Ovary	ovary
2	chr4:21115400-21119200	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:21115600-21119000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:21116800-21120000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:21118800-21119000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr4:21118800-21119200	Active TSS	HSMM	muscle
7	chr4:21119000-21120200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:21119200-21120200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr4:21119200-21120600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr4:21119200-21120600	Enhancers	Colon Smooth Muscle	Colon
11	chr4:21119200-21120800	Enhancers	HUES64 Cell Line	embryonic stem cell

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