Variant report

Variant	nsv818231
Chromosome Location	chr4:46555042-46589847
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	chr4:46444130..46446100-chr4:46557651..46559731,2	K562	blood:

Extended variants
information (count: 284 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:284 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551800352	chr4:46556224-46556225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147769776	chr4:46556233-46556234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570036256	chr4:46556255-46556256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561578442	chr4:46556264-46556265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10517164	chr4:46556265-46556266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139494725	chr4:46556350-46556351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184539053	chr4:46556371-46556372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114266314	chr4:46556372-46556373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149951945	chr4:46556375-46556376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551359876	chr4:46556395-46556396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575714233	chr4:46556457-46556458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376288899	chr4:46556466-46556467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374584115	chr4:46556534-46556535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535290889	chr4:46556550-46556551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189293771	chr4:46556592-46556593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193114259	chr4:46556648-46556649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568262098	chr4:46556747-46556748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184594286	chr4:46556780-46556781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201159958	chr4:46556782-46556783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189236717	chr4:46556808-46556809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539758970	chr4:46556855-46556856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78168232	chr4:46556864-46556865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575990678	chr4:46556937-46556938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543153942	chr4:46556969-46556970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4576046	chr4:46557025-46557026	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573812613	chr4:46557067-46557068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181643215	chr4:46557097-46557098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565846704	chr4:46557124-46557125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559612197	chr4:46557132-46557133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs12508971	chr4:46557146-46557147	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs545299451	chr4:46557179-46557180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367948336	chr4:46557213-46557214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574755439	chr4:46557214-46557215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75982034	chr4:46557229-46557230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59415827	chr4:46557232-46557233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557354683	chr4:46557260-46557261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530831289	chr4:46557261-46557262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549948561	chr4:46557266-46557267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561732903	chr4:46557291-46557292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114375870	chr4:46557441-46557442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs16859477	chr4:46557475-46557476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs565942602	chr4:46557499-46557500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34016189	chr4:46557531-46557532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112613785	chr4:46557543-46557544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35084043	chr4:46557568-46557569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184295836	chr4:46557602-46557603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370782798	chr4:46557638-46557639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs555428704	chr4:46557641-46557642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573653979	chr4:46557655-46557656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534725249	chr4:46557706-46557707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:46556200-46557400	Enhancers	Fetal Brain Male	brain
2	chr4:46556600-46557200	Enhancers	Fetal Brain Female	brain
3	chr4:46557200-46557600	Weak transcription	Fetal Brain Female	brain
4	chr4:46557400-46557800	Weak transcription	Fetal Brain Male	brain
5	chr4:46557600-46558000	Enhancers	Fetal Brain Female	brain
6	chr4:46557800-46558000	Enhancers	Fetal Brain Male	brain
7	chr4:46558000-46561000	Weak transcription	Fetal Brain Male	brain
8	chr4:46559000-46559800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:46559000-46560000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:46561000-46561200	Enhancers	Fetal Brain Male	brain
11	chr4:46561200-46561600	Weak transcription	Fetal Brain Male	brain
12	chr4:46561600-46562000	Enhancers	Fetal Brain Male	brain
13	chr4:46587600-46588800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:46588400-46589000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:46588400-46589600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:46588600-46589000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:46588600-46589000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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