Variant report

Variant	esv2061559
Chromosome Location	chr4:21758655-21759035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150967466	chr4:21758682-21758683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184464766	chr4:21758692-21758693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199632544	chr4:21758721-21758722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188613561	chr4:21758726-21758727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532941686	chr4:21758732-21758733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181137687	chr4:21758750-21758751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139565230	chr4:21758754-21758755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535582734	chr4:21758758-21758759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531881175	chr4:21758770-21758771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28691241	chr4:21758782-21758783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371169071	chr4:21758786-21758787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569303821	chr4:21758789-21758790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200642413	chr4:21758793-21758794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184254020	chr4:21758797-21758798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368489510	chr4:21758798-21758799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374979112	chr4:21758817-21758818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4627851	chr4:21758821-21758822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60406104	chr4:21758825-21758826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371382190	chr4:21758826-21758827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs58440438	chr4:21758829-21758830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59880573	chr4:21758837-21758838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373629685	chr4:21758846-21758847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13144011	chr4:21758850-21758851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200786367	chr4:21758851-21758852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367647580	chr4:21758858-21758859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145596310	chr4:21758867-21758868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373053045	chr4:21758871-21758872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372905920	chr4:21758874-21758875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371778719	chr4:21758876-21758877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs67743382	chr4:21758881-21758882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368671614	chr4:21758886-21758887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377355335	chr4:21758891-21758892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550464634	chr4:21758894-21758895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142173311	chr4:21758909-21758910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568268480	chr4:21758910-21758911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545052064	chr4:21758912-21758913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535652398	chr4:21758915-21758916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553986287	chr4:21758923-21758924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13143578	chr4:21758926-21758927	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs181745724	chr4:21758965-21758966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs207464389	chr4:21758969-21758970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557443722	chr4:21758980-21758981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1823503	chr4:21758981-21758982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs374826794	chr4:21758986-21758987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543313266	chr4:21759011-21759012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21752200-21764600	Weak transcription	HMEC	breast
2	chr4:21755400-21764000	Weak transcription	Colon Smooth Muscle	Colon

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