Variant report

Variant	nsv520260
Chromosome Location	chr4:22664767-22666055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2581968	chr4:22664767-22664768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189280196	chr4:22664778-22664779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531284334	chr4:22664831-22664832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371359709	chr4:22664854-22664855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113406622	chr4:22664869-22664870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs143765953	chr4:22664872-22664873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569342422	chr4:22664876-22664877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185532070	chr4:22664908-22664909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10625564	chr4:22664909-22664910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35407878	chr4:22664914-22664915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554916848	chr4:22664927-22664928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567161948	chr4:22665011-22665012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73106150	chr4:22665025-22665026	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543836480	chr4:22665120-22665121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4697333	chr4:22665162-22665163	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577335119	chr4:22665189-22665190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532907554	chr4:22665190-22665191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556744665	chr4:22665278-22665279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78889713	chr4:22665296-22665297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74589941	chr4:22665297-22665298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574502653	chr4:22665298-22665299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78820187	chr4:22665299-22665300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542019204	chr4:22665316-22665317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560155231	chr4:22665347-22665348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144964312	chr4:22665418-22665419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs527607252	chr4:22665419-22665420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs201130887	chr4:22665420-22665421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs202198612	chr4:22665421-22665422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200345634	chr4:22665422-22665423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545721377	chr4:22665466-22665467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563723848	chr4:22665467-22665468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs373353354	chr4:22665478-22665479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114311861	chr4:22665481-22665482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551681253	chr4:22665534-22665535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530192632	chr4:22665545-22665546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570102061	chr4:22665563-22665564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189934495	chr4:22665653-22665654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567023115	chr4:22665676-22665677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534471251	chr4:22665689-22665690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140244750	chr4:22665709-22665710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116553133	chr4:22665711-22665712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558123981	chr4:22665720-22665721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs80264781	chr4:22665736-22665737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575235947	chr4:22665764-22665765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556344222	chr4:22665796-22665797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574893550	chr4:22665892-22665893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541632907	chr4:22665928-22665929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7682899	chr4:22665990-22665991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77660838	chr4:22666003-22666004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545682792	chr4:22666009-22666010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22663200-22668000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr4:22663200-22668600	Weak transcription	Placenta	Placenta
3	chr4:22663200-22674800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:22663800-22665000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:22663800-22668400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:22664000-22668200	Weak transcription	NHEK	skin
7	chr4:22665000-22665200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:22665400-22665800	Enhancers	Fetal Intestine Small	intestine
9	chr4:22665600-22666000	Enhancers	Liver	Liver
10	chr4:22665800-22670000	Weak transcription	Fetal Intestine Small	intestine
11	chr4:22666000-22669200	Weak transcription	Liver	Liver

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