Variant report

Variant	esv2481294
Chromosome Location	chr4:30985561-30987035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552198418	chr4:30985640-30985641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570745816	chr4:30985644-30985645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535153193	chr4:30985687-30985688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553170560	chr4:30985752-30985753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148162640	chr4:30985756-30985757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536068306	chr4:30985769-30985770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557546533	chr4:30985784-30985785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112465445	chr4:30985792-30985793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546511499	chr4:30985832-30985833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371258885	chr4:30985855-30985856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564931462	chr4:30985903-30985904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551495525	chr4:30985935-30985936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576744513	chr4:30985974-30985975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373183385	chr4:30985977-30985978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78765213	chr4:30985978-30985979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559199842	chr4:30986004-30986005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529701827	chr4:30986007-30986008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142023154	chr4:30986056-30986057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563140088	chr4:30986140-30986141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530753530	chr4:30986170-30986171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs571299668	chr4:30986180-30986181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146159609	chr4:30986227-30986228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570852841	chr4:30986239-30986240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528496092	chr4:30986279-30986280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546936423	chr4:30986303-30986304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138217506	chr4:30986316-30986317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112777782	chr4:30986355-30986356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535902941	chr4:30986367-30986368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557630261	chr4:30986397-30986398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367738420	chr4:30986496-30986497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140005850	chr4:30986511-30986512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371294095	chr4:30986570-30986571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540166401	chr4:30986575-30986576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202106995	chr4:30986589-30986590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183423845	chr4:30986615-30986616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567411525	chr4:30986627-30986628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188825243	chr4:30986632-30986633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540681164	chr4:30986646-30986647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35305973	chr4:30986674-30986675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs141964489	chr4:30986679-30986680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146317333	chr4:30986680-30986681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193074037	chr4:30986681-30986682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530596848	chr4:30986682-30986683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545951298	chr4:30986714-30986715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185807521	chr4:30986798-30986799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555891270	chr4:30986799-30986800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559416232	chr4:30986820-30986821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528345282	chr4:30986844-30986845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9986088	chr4:30986848-30986849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs9985629	chr4:30986860-30986861	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
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
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
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	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
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Tetralogy of Fallot	22912587	CNVD
Renal cell carcinoma	18194544	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:30928600-30997400	Weak transcription	Fetal Lung	lung
2	chr4:30964600-30992600	Weak transcription	Aorta	Aorta
3	chr4:30982000-30998400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:30984600-30986400	Enhancers	Fetal Stomach	stomach
5	chr4:30985000-30985600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:30985000-30986000	Enhancers	Fetal Heart	heart
7	chr4:30985200-30985600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:30985200-30985600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:30985200-30985600	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links