Variant report

Variant	esv13414
Chromosome Location	chr4:21782010-21782635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7681415	chr4:21782045-21782046	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574750323	chr4:21782070-21782071	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542121125	chr4:21782088-21782089	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181166005	chr4:21782094-21782095	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529916233	chr4:21782143-21782144	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549650912	chr4:21782219-21782220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186391317	chr4:21782242-21782243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386672436	chr4:21782268-21782269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs6448080	chr4:21782334-21782335	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs386672437	chr4:21782340-21782341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114443724	chr4:21782341-21782342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374053707	chr4:21782374-21782375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191812512	chr4:21782388-21782389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528941232	chr4:21782399-21782400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547703081	chr4:21782455-21782456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565996719	chr4:21782459-21782460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34379638	chr4:21782475-21782476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6448082	chr4:21782493-21782494	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551574455	chr4:21782500-21782501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369160677	chr4:21782515-21782516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534371057	chr4:21782537-21782538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35161937	chr4:21782583-21782584	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116300661	chr4:21782584-21782585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6448083	chr4:21782597-21782598	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535498101	chr4:21782604-21782605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138842390	chr4:21782618-21782619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6448084	chr4:21782619-21782620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:58)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21781000-21782800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:21781800-21782400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr4:21781800-21782600	Enhancers	NH-A	brain
4	chr4:21781800-21782600	Enhancers	Osteobl	bone
5	chr4:21781800-21783200	Enhancers	HUVEC	blood vessel
6	chr4:21782000-21782200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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