Variant report

Variant	esv3368590
Chromosome Location	chr4:18978854-18982752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181184421	chr4:18981088-18981089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531486239	chr4:18981093-18981094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549702251	chr4:18981134-18981135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142940635	chr4:18981185-18981186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185445700	chr4:18981221-18981222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547282722	chr4:18981278-18981279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566137869	chr4:18981312-18981313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35538355	chr4:18981315-18981316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs397974237	chr4:18981321-18981322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377541252	chr4:18981369-18981370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146103707	chr4:18981379-18981380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190990083	chr4:18981380-18981381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78102597	chr4:18981383-18981384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201448630	chr4:18981398-18981399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs397974238	chr4:18981406-18981407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs199950307	chr4:18981407-18981408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148742185	chr4:18981417-18981418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555980925	chr4:18981454-18981455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2537919	chr4:18981483-18981484	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2256795	chr4:18981541-18981542	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs114309663	chr4:18981576-18981577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571784184	chr4:18981628-18981629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370460055	chr4:18981642-18981643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545527054	chr4:18981656-18981657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184080984	chr4:18981690-18981691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531251561	chr4:18981739-18981740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537474975	chr4:18981791-18981792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187224160	chr4:18981821-18981822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551644490	chr4:18981824-18981825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561977183	chr4:18981870-18981871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191653672	chr4:18981966-18981967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs36067081	chr4:18981992-18981993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571412090	chr4:18981997-18981998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183559032	chr4:18982136-18982137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565771449	chr4:18982154-18982155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142300108	chr4:18982189-18982190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187295965	chr4:18982210-18982211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191837851	chr4:18982220-18982221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527916063	chr4:18982271-18982272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570168290	chr4:18982273-18982274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372916670	chr4:18982285-18982286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182504880	chr4:18982298-18982299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373658588	chr4:18982315-18982316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs150826529	chr4:18982402-18982403	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs11731511	chr4:18982413-18982414	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs534097522	chr4:18982456-18982457	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs371236801	chr4:18982477-18982478	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs139234409	chr4:18982523-18982524	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs2537918	chr4:18982533-18982534	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577854825	chr4:18982541-18982542	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18981000-18983200	Enhancers	Primary B cells from cord blood	blood
2	chr4:18982200-18982400	Enhancers	NHEK	skin
3	chr4:18982200-18982600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:18982200-18982800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:18982200-18983000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:18982200-18983000	Enhancers	Primary B cells from peripheral blood	blood
7	chr4:18982200-18983000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:18982400-18982800	Flanking Active TSS	NHEK	skin
9	chr4:18982400-18983000	Enhancers	HMEC	breast

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