Variant report

Variant	esv3495171
Chromosome Location	chr4:16443327-16445273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16291216..16292322-chr4:16444840..16445760,4	MCF-7	breast:
2	chr4:16291175..16292655-chr4:16444905..16445780,4	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186435047	chr4:16443338-16443339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575873809	chr4:16443345-16443346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544956119	chr4:16443359-16443360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191987748	chr4:16443367-16443368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371055809	chr4:16443452-16443453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201162794	chr4:16443460-16443461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149086150	chr4:16443464-16443465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs199855145	chr4:16443465-16443466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs33983809	chr4:16443466-16443467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143109570	chr4:16443467-16443468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34857676	chr4:16443486-16443487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199806369	chr4:16443487-16443488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs398063316	chr4:16443498-16443499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183469129	chr4:16443500-16443501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76769444	chr4:16443502-16443503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188450819	chr4:16443504-16443505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199905180	chr4:16443507-16443508	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112065621	chr4:16443509-16443510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192840735	chr4:16443528-16443529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562567518	chr4:16443540-16443541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563294083	chr4:16443574-16443575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145454160	chr4:16443575-16443576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs551225934	chr4:16443622-16443623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182919578	chr4:16443641-16443642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115963680	chr4:16443647-16443648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34473162	chr4:16443654-16443655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74511755	chr4:16443672-16443673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567346205	chr4:16443675-16443676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535992025	chr4:16443721-16443722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555913388	chr4:16443843-16443844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187110647	chr4:16443851-16443852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538465030	chr4:16443864-16443865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558448291	chr4:16443866-16443867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530719746	chr4:16443900-16443901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4698148	chr4:16443928-16443929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs373240198	chr4:16443956-16443957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75404600	chr4:16443978-16443979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553927125	chr4:16443979-16443980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574054411	chr4:16444008-16444009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533202797	chr4:16444021-16444022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542785858	chr4:16444105-16444106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563013536	chr4:16444136-16444137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531373401	chr4:16444240-16444241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73798771	chr4:16444272-16444273	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs73798772	chr4:16444303-16444304	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527620739	chr4:16444305-16444306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145044260	chr4:16444339-16444340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs116215980	chr4:16444357-16444358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529708863	chr4:16444386-16444387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1158866	chr4:16444413-16444414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:51)

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
Breast cancer	21509527	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	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16441000-16443800	Enhancers	Fetal Brain Male	brain
2	chr4:16443800-16449600	Weak transcription	Fetal Brain Male	brain
3	chr4:16444200-16444400	Enhancers	NH-A	brain

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