Variant report

Variant	nsv999227
Chromosome Location	chr4:19948910-19975405
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 395 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185143524	chr4:19948914-19948915	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373431982	chr4:19948932-19948933	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190720441	chr4:19948951-19948952	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571723086	chr4:19948964-19948965	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138115574	chr4:19948967-19948968	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557445938	chr4:19949004-19949005	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73240130	chr4:19949015-19949016	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543110680	chr4:19949047-19949048	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562311532	chr4:19949140-19949141	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs73240131	chr4:19949223-19949224	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs184166066	chr4:19949255-19949256	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188736344	chr4:19949257-19949258	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533647954	chr4:19949258-19949259	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551801508	chr4:19949344-19949345	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73803906	chr4:19949349-19949350	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs145176765	chr4:19949367-19949368	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192123437	chr4:19949374-19949375	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549159503	chr4:19949422-19949423	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537246530	chr4:19949425-19949426	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570143539	chr4:19949453-19949454	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555563142	chr4:19949458-19949459	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532654711	chr4:19949468-19949469	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73803907	chr4:19949489-19949490	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147222243	chr4:19949498-19949499	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565665517	chr4:19949508-19949509	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183044678	chr4:19949619-19949620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558606387	chr4:19949764-19949765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566162900	chr4:19949768-19949769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528535200	chr4:19949869-19949870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575901507	chr4:19949887-19949888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61790380	chr4:19949890-19949891	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs75318765	chr4:19949901-19949902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573765289	chr4:19949953-19949954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34552240	chr4:19949960-19949961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74665055	chr4:19949962-19949963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78783529	chr4:19949979-19949980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374681948	chr4:19950012-19950013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4597829	chr4:19950071-19950072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs578260865	chr4:19950075-19950076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545333996	chr4:19950083-19950084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73803908	chr4:19950084-19950085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs75523879	chr4:19950098-19950099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140643960	chr4:19950134-19950135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61790422	chr4:19950138-19950139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs528542612	chr4:19950166-19950167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7435851	chr4:19950192-19950193	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs61790423	chr4:19950201-19950202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539722940	chr4:19950202-19950203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551359561	chr4:19950207-19950208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534365052	chr4:19950235-19950236	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
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19946400-19949800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:19946600-19949000	Enhancers	HUVEC	blood vessel
3	chr4:19946600-19949800	Enhancers	NHLF	lung
4	chr4:19946800-19949600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:19946800-19949600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:19947400-19949000	Enhancers	Dnd41	blood
7	chr4:19947600-19950000	Enhancers	NHDF-Ad	bronchial
8	chr4:19947800-19949600	Enhancers	NH-A	brain
9	chr4:19947800-19950000	Enhancers	Osteobl	bone
10	chr4:19948200-19949000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:19948400-19949000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:19948400-19950000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:19948600-19949800	Weak transcription	NHEK	skin
14	chr4:19948800-19949000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:19948800-19949600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:19949000-19949200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:19949000-19949200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:19949000-19950000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:19949200-19949400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:19949200-19949600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:19949400-19950000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:19949600-19950000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:19949600-19950000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:19949800-19950000	Enhancers	NHEK	skin
25	chr4:19949800-19952000	Weak transcription	NHLF	lung
26	chr4:19959800-19961400	Enhancers	Dnd41	blood
27	chr4:19960000-19960600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:19960600-19960800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr4:19962200-19963400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr4:19962200-19963600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:19962200-19963600	Enhancers	NHDF-Ad	bronchial
32	chr4:19962400-19962600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr4:19962400-19963000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:19962400-19963400	Enhancers	NHLF	lung
35	chr4:19962400-19963600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:19962600-19963400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:19962600-19963400	Enhancers	NH-A	brain
38	chr4:19962600-19963600	Enhancers	Osteobl	bone
39	chr4:19962800-19963200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:19963200-19963400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr4:19963200-19963800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:19967800-19968000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:19968000-19971200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:19969000-19971400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:19971200-19971600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr4:19973000-19974000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:19973400-19973800	Enhancers	NH-A	brain
48	chr4:19973400-19974000	Enhancers	NHEK	skin
49	chr4:19973600-19974000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr4:19973600-19974400	Enhancers	Placenta Amnion	Placenta Amnion

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