Variant report

Variant	nsv822501
Chromosome Location	chr4:20195633-20196572
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	chr4:20195655..20196157-chrX:69563999..69564842,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530629714	chr4:20195680-20195681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189937739	chr4:20195688-20195689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567473143	chr4:20195704-20195705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528367722	chr4:20195742-20195743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs59532782	chr4:20195799-20195800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570902290	chr4:20195829-20195830	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs677198	chr4:20195830-20195831	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs575487794	chr4:20195869-20195870	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs517903	chr4:20195890-20195891	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115900926	chr4:20195953-20195954	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs375731593	chr4:20195960-20195961	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs182193525	chr4:20196002-20196003	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs114593020	chr4:20196028-20196029	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs573491514	chr4:20196097-20196098	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs188035793	chr4:20196141-20196142	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs115290064	chr4:20196148-20196149	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs192496072	chr4:20196155-20196156	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs34251496	chr4:20196168-20196169	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs559036694	chr4:20196253-20196254	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs11937622	chr4:20196256-20196257	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs557692806	chr4:20196268-20196269	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs370436810	chr4:20196269-20196270	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs544579502	chr4:20196274-20196275	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs183636068	chr4:20196296-20196297	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs530183975	chr4:20196330-20196331	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs76673915	chr4:20196334-20196335	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs34807154	chr4:20196337-20196338	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs188682331	chr4:20196341-20196342	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs561123289	chr4:20196355-20196356	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs16869343	chr4:20196370-20196371	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs565185412	chr4:20196399-20196400	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs576954042	chr4:20196400-20196401	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs541265147	chr4:20196401-20196402	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs546488157	chr4:20196443-20196444	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs564792182	chr4:20196469-20196470	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs531995024	chr4:20196473-20196474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs550133135	chr4:20196511-20196512	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs568886209	chr4:20196530-20196531	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs577931041	chr4:20196563-20196564	Weak transcription Enhancers Flanking Active TSS	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20194200-20197600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:20194200-20197800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:20194200-20197800	Enhancers	HMEC	breast
4	chr4:20194200-20197800	Enhancers	NHEK	skin
5	chr4:20194200-20199600	Enhancers	NHDF-Ad	bronchial
6	chr4:20194200-20199800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:20194400-20196000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:20194400-20196600	Enhancers	Fetal Lung	lung
9	chr4:20194400-20198400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:20194600-20197400	Enhancers	HUVEC	blood vessel
11	chr4:20194600-20197800	Enhancers	NH-A	brain
12	chr4:20194600-20198200	Enhancers	NHLF	lung
13	chr4:20194600-20198400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:20194800-20195800	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr4:20194800-20196400	Enhancers	Fetal Stomach	stomach
16	chr4:20194800-20197000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:20195000-20196600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:20195000-20196600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:20195200-20196200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:20195200-20196400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:20195200-20196600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:20195200-20197400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:20195200-20198200	Enhancers	Hela-S3	cervix
24	chr4:20195400-20195800	Enhancers	Osteobl	bone
25	chr4:20195400-20197400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:20195800-20196200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr4:20195800-20196200	Flanking Active TSS	Osteobl	bone
28	chr4:20195800-20197200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:20196000-20197200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:20196200-20196400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr4:20196200-20196800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr4:20196200-20197000	Enhancers	Osteobl	bone
33	chr4:20196400-20196600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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