Variant report

Variant	esv3468311
Chromosome Location	chr4:21248954-21250252
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560387013	chr4:21248963-21248964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562512042	chr4:21248980-21248981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527877195	chr4:21248997-21248998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565556669	chr4:21249018-21249019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564777837	chr4:21249021-21249022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531914104	chr4:21249076-21249077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190750612	chr4:21249099-21249100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374424415	chr4:21249139-21249140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531700870	chr4:21249192-21249193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550076023	chr4:21249199-21249200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368574338	chr4:21249201-21249202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372458825	chr4:21249202-21249203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567686899	chr4:21249215-21249216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs60732659	chr4:21249216-21249217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28528979	chr4:21249225-21249226	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs28628640	chr4:21249276-21249277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111494944	chr4:21249282-21249283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200974594	chr4:21249285-21249286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372713067	chr4:21249322-21249323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549053876	chr4:21249359-21249360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534018761	chr4:21249369-21249370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs58465908	chr4:21249383-21249384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141560898	chr4:21249387-21249388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566544193	chr4:21249421-21249422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374349586	chr4:21249423-21249424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369985938	chr4:21249424-21249425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28738747	chr4:21249443-21249444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555200615	chr4:21249457-21249458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370852203	chr4:21249472-21249473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373448262	chr4:21249473-21249474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575181716	chr4:21249488-21249489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186413035	chr4:21249490-21249491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377574507	chr4:21249516-21249517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560733464	chr4:21249531-21249532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13435475	chr4:21249538-21249539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372237209	chr4:21249553-21249554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201314507	chr4:21249559-21249560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs67717435	chr4:21249560-21249561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201440002	chr4:21249605-21249606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577602634	chr4:21249606-21249607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11933872	chr4:21249607-21249608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150168836	chr4:21249623-21249624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs67282246	chr4:21249625-21249626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35633880	chr4:21249627-21249628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200886748	chr4:21249628-21249629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200578127	chr4:21249683-21249684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61123017	chr4:21249684-21249685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397795057	chr4:21249702-21249703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148018666	chr4:21249705-21249706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560187581	chr4:21249714-21249715	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	chr4:21247000-21249800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:21249800-21250200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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