Variant report

Variant	esv3380429
Chromosome Location	chr4:46700045-46702543
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566386702	chr4:46700640-46700641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs148395143	chr4:46700661-46700662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs562589569	chr4:46700680-46700681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs569544364	chr4:46700687-46700688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs62303494	chr4:46700705-46700706	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs377601587	chr4:46700713-46700714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs7673010	chr4:46700738-46700739	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181011815	chr4:46700739-46700740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs527562832	chr4:46700748-46700749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs570273280	chr4:46700749-46700750	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs571605567	chr4:46700786-46700787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs534091749	chr4:46700807-46700808	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs28816718	chr4:46700840-46700841	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569358379	chr4:46700854-46700855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs536411444	chr4:46700872-46700873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs554862498	chr4:46700875-46700876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs573232872	chr4:46700893-46700894	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs534208588	chr4:46700913-46700914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs117770389	chr4:46700914-46700915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs576770851	chr4:46700915-46700916	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs543976239	chr4:46700924-46700925	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs377466638	chr4:46700951-46700952	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs574699812	chr4:46700958-46700959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs542073065	chr4:46700959-46700960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs560372419	chr4:46700961-46700962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs374568921	chr4:46700988-46700989	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs116429630	chr4:46701039-46701040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs113340589	chr4:46701054-46701055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs147630636	chr4:46701069-46701070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs112005420	chr4:46701091-46701092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs114967183	chr4:46701092-46701093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs386674222	chr4:46701110-46701111	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs28768400	chr4:46701111-46701112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs111722228	chr4:46701114-46701115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113726302	chr4:46701117-46701118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs548411227	chr4:46701159-46701160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs28839512	chr4:46701160-46701161	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112152905	chr4:46701203-46701204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs559159239	chr4:46701206-46701207	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs377201766	chr4:46701207-46701208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs537814946	chr4:46701213-46701214	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs190506570	chr4:46701220-46701221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs538921106	chr4:46701229-46701230	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs182481395	chr4:46701230-46701231	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs370046929	chr4:46701233-46701234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs541936064	chr4:46701234-46701235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs151202216	chr4:46701235-46701236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs187060366	chr4:46701257-46701258	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs552142607	chr4:46701258-46701259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs564369400	chr4:46701265-46701266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
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
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	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
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:46700600-46701000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:46700600-46701200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:46700800-46701400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:46701400-46701600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links