Variant report

Variant	esv3447009
Chromosome Location	chr4:3567854-3571952
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	chr4:3557568..3561232-chr4:3567417..3570129,3	K562	blood:

Extended variants
information (count: 322 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572270565	chr4:3567868-3567869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533450938	chr4:3567874-3567875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71180201	chr4:3567885-3567886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs3868905	chr4:3567897-3567898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13141874	chr4:3567916-3567917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79642680	chr4:3567921-3567922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543848392	chr4:3567937-3567938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13121757	chr4:3567959-3567960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13152127	chr4:3567974-3567975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566941838	chr4:3568001-3568002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563653848	chr4:3568005-3568006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529444476	chr4:3568006-3568007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140829089	chr4:3568013-3568014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13107164	chr4:3568023-3568024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568263446	chr4:3568025-3568026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191549136	chr4:3568059-3568060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs13152341	chr4:3568061-3568062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547262703	chr4:3568064-3568065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13122018	chr4:3568065-3568066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113334321	chr4:3568087-3568088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376000716	chr4:3568106-3568107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13142319	chr4:3568137-3568138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs539330526	chr4:3568139-3568140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550047640	chr4:3568154-3568155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13152577	chr4:3568161-3568162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77670913	chr4:3568184-3568185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13152600	chr4:3568217-3568218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183752951	chr4:3568229-3568230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535196452	chr4:3568236-3568237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs13122303	chr4:3568237-3568238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571636955	chr4:3568244-3568245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572561348	chr4:3568250-3568251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541654233	chr4:3568256-3568257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80125118	chr4:3568279-3568280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558067392	chr4:3568307-3568308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578219643	chr4:3568318-3568319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200546559	chr4:3568346-3568347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs544114615	chr4:3568379-3568380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563692786	chr4:3568383-3568384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529256299	chr4:3568399-3568400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201411449	chr4:3568437-3568438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1730796	chr4:3568454-3568455	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs1730797	chr4:3568460-3568461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs193300897	chr4:3568467-3568468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs528573489	chr4:3568468-3568469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1741573	chr4:3568505-3568506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs113814884	chr4:3568522-3568523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369918357	chr4:3568586-3568587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs190474513	chr4:3568590-3568591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533271419	chr4:3568593-3568594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3550600-3580400	Weak transcription	Right Atrium	heart
2	chr4:3558800-3574600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:3567800-3568800	Enhancers	Fetal Brain Male	brain
4	chr4:3568000-3568200	Enhancers	Fetal Lung	lung
5	chr4:3568000-3569000	Enhancers	Fetal Brain Female	brain
6	chr4:3568800-3569200	Active TSS	Fetal Lung	lung
7	chr4:3571800-3572000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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