Variant report

Variant	esv2450256
Chromosome Location	chr4:46796388-46799761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566461432	chr4:46796432-46796433	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs114574090	chr4:46796462-46796463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs142081842	chr4:46796466-46796467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs570530196	chr4:46796477-46796478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541077250	chr4:46796530-46796531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs556347343	chr4:46796534-46796535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs199861634	chr4:46796555-46796556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs150796842	chr4:46796565-46796566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs139214516	chr4:46796570-46796571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs554692100	chr4:46796576-46796577	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs376897482	chr4:46796587-46796588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs145219208	chr4:46796597-46796598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs187317518	chr4:46796606-46796607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs192377257	chr4:46796617-46796618	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs576876152	chr4:46796625-46796626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544409041	chr4:46796727-46796728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs10029824	chr4:46796758-46796759	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs530375610	chr4:46796776-46796777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs183693411	chr4:46796786-46796787	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs559929673	chr4:46796787-46796788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs113882673	chr4:46796808-46796809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs147605786	chr4:46796829-46796830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs10938458	chr4:46796836-46796837	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs115910229	chr4:46796883-46796884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs537900586	chr4:46796946-46796947	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs550046923	chr4:46796949-46796950	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs10030045	chr4:46797022-46797023	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs374728090	chr4:46797042-46797043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554049655	chr4:46797079-46797080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572217550	chr4:46797120-46797121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534200238	chr4:46797121-46797122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370640328	chr4:46797136-46797137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576962016	chr4:46797145-46797146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544299147	chr4:46797222-46797223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373885861	chr4:46797244-46797245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574964237	chr4:46797336-46797337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9715447	chr4:46797356-46797357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200040668	chr4:46797518-46797519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs56653693	chr4:46797583-46797584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs371211969	chr4:46797855-46797856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542024324	chr4:46797933-46797934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560863180	chr4:46797935-46797936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527934058	chr4:46797954-46797955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12015212	chr4:46797956-46797957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545794007	chr4:46798267-46798268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564068073	chr4:46798268-46798269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531461803	chr4:46798296-46798297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549886159	chr4:46798320-46798321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568127656	chr4:46798333-46798334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529105584	chr4:46798353-46798354	Weak transcription	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
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:46795800-46796400	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr4:46795800-46797000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:46797000-46799200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:46799200-46799800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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