Variant report

Variant	esv3347442
Chromosome Location	chr4:7483102-7485500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35108172	chr4:7483120-7483121	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562892233	chr4:7483155-7483156	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs184851808	chr4:7483157-7483158	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs13108112	chr4:7483168-7483169	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560561297	chr4:7483205-7483206	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs527936808	chr4:7483221-7483222	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112424391	chr4:7483228-7483229	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs377138130	chr4:7483242-7483243	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs550031198	chr4:7483254-7483255	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs575668755	chr4:7483275-7483276	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs190383761	chr4:7483292-7483293	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs181019818	chr4:7483298-7483299	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs539029864	chr4:7483299-7483300	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs558040928	chr4:7483303-7483304	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs11930924	chr4:7483346-7483347	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11936696	chr4:7483391-7483392	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184248115	chr4:7483398-7483399	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs371808560	chr4:7483401-7483402	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs189310198	chr4:7483421-7483422	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs573751977	chr4:7483454-7483455	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs538168543	chr4:7483476-7483477	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs76927959	chr4:7483501-7483502	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs369230337	chr4:7483520-7483521	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs62277652	chr4:7483536-7483537	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371417755	chr4:7483547-7483548	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs181341157	chr4:7483558-7483559	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs560448673	chr4:7483563-7483564	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs572460897	chr4:7483566-7483567	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs529887922	chr4:7483590-7483591	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs548518607	chr4:7483600-7483601	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs201048281	chr4:7483614-7483615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55739784	chr4:7483618-7483619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11937662	chr4:7483656-7483657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550096680	chr4:7483657-7483658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565229851	chr4:7483664-7483665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56062331	chr4:7483676-7483677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532812366	chr4:7483680-7483681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13140888	chr4:7483703-7483704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550965691	chr4:7483710-7483711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55923357	chr4:7483715-7483716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56377216	chr4:7483731-7483732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566428694	chr4:7483736-7483737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56365226	chr4:7483771-7483772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55764518	chr4:7483775-7483776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56033134	chr4:7483796-7483797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13146480	chr4:7483798-7483799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571688692	chr4:7483834-7483835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112160956	chr4:7483836-7483837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567382561	chr4:7483838-7483839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113111023	chr4:7483843-7483844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	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
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7482800-7483600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:7483000-7483600	Active TSS	Gastric	stomach
3	chr4:7483600-7486400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:7484000-7486800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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