Variant report

Variant	esv3421939
Chromosome Location	chr4:21015879-21018727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553587832	chr4:21015897-21015898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560636435	chr4:21015915-21015916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528204243	chr4:21015927-21015928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs118138305	chr4:21015949-21015950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564951667	chr4:21015963-21015964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532393773	chr4:21015984-21015985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187975504	chr4:21016018-21016019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs62293774	chr4:21016091-21016092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs180932911	chr4:21016105-21016106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150961182	chr4:21016130-21016131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs58928945	chr4:21016133-21016134	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs140813201	chr4:21016143-21016144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150140571	chr4:21016159-21016160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578112917	chr4:21016170-21016171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138885585	chr4:21016184-21016185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115762104	chr4:21016196-21016197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546542500	chr4:21016197-21016198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116141329	chr4:21016220-21016221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112310162	chr4:21016253-21016254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560573809	chr4:21016258-21016259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572863807	chr4:21016280-21016281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116655394	chr4:21016334-21016335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189495840	chr4:21016342-21016343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532202180	chr4:21016343-21016344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571998074	chr4:21016350-21016351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75603621	chr4:21016351-21016352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562754401	chr4:21016362-21016363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76349941	chr4:21016367-21016368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs549368866	chr4:21016379-21016380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567567956	chr4:21016380-21016381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142935481	chr4:21016453-21016454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181500721	chr4:21016469-21016470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79906401	chr4:21016480-21016481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568909995	chr4:21016533-21016534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147035041	chr4:21016535-21016536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186733509	chr4:21016538-21016539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575506854	chr4:21016565-21016566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138322297	chr4:21016588-21016589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61710404	chr4:21016628-21016629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs377024140	chr4:21016672-21016673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190793008	chr4:21016698-21016699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540266939	chr4:21016705-21016706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371491807	chr4:21016711-21016712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375821091	chr4:21016715-21016716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564818091	chr4:21016724-21016725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557918417	chr4:21016730-21016731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181798860	chr4:21016748-21016749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80193349	chr4:21016799-21016800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368171713	chr4:21016809-21016810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370653978	chr4:21016846-21016847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	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
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
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
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21011800-21016200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:21012400-21016000	Enhancers	HUVEC	blood vessel
3	chr4:21014000-21016400	Enhancers	HMEC	breast
4	chr4:21014400-21016000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:21014600-21016000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr4:21014800-21016000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:21014800-21016000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:21015200-21016000	Enhancers	NHEK	skin
9	chr4:21016000-21017800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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