Variant report

Variant	esv1820603
Chromosome Location	chr4:93890098-93911163
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	chr4:93908293..93911044-chr4:93911588..93914279,2	MCF-7	breast:
2	chr4:93886231..93887821-chr4:93901908..93903959,2	K562	blood:

Extended variants
information (count: 287 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6836612	chr4:93890098-93890099	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549151331	chr4:93890121-93890122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs17020040	chr4:93890168-93890169	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181862735	chr4:93890184-93890185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545876363	chr4:93890210-93890211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138387655	chr4:93890281-93890282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142472452	chr4:93890302-93890303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547594695	chr4:93890354-93890355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567488401	chr4:93890447-93890448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529880009	chr4:93890459-93890460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186425670	chr4:93890485-93890486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569719149	chr4:93890525-93890526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538536398	chr4:93890542-93890543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538673643	chr4:93890544-93890545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538567536	chr4:93890585-93890586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558253222	chr4:93890604-93890605	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs547584690	chr4:93890605-93890606	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs188568446	chr4:93890619-93890620	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs566095012	chr4:93890625-93890626	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs554809312	chr4:93890649-93890650	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs375546816	chr4:93890723-93890724	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs12510452	chr4:93890730-93890731	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs79719391	chr4:93890750-93890751	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs145923277	chr4:93890766-93890767	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs538809671	chr4:93890772-93890773	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs181327232	chr4:93890780-93890781	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs185150413	chr4:93890855-93890856	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs559464320	chr4:93890856-93890857	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs138851997	chr4:93890857-93890858	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs572892549	chr4:93890864-93890865	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs189854782	chr4:93890878-93890879	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs184029561	chr4:93890905-93890906	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs187377815	chr4:93890915-93890916	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs62308160	chr4:93890933-93890934	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191762328	chr4:93890979-93890980	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs183538135	chr4:93890989-93890990	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs141311231	chr4:93891048-93891049	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs552223320	chr4:93891076-93891077	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs150798905	chr4:93891133-93891134	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs573272254	chr4:93891156-93891157	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs62308161	chr4:93891162-93891163	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs140922667	chr4:93891169-93891170	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs548478148	chr4:93891174-93891175	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs568413999	chr4:93891199-93891200	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs537290515	chr4:93891205-93891206	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs557115469	chr4:93891256-93891257	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs577292990	chr4:93891288-93891289	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs80311597	chr4:93891297-93891298	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs553394791	chr4:93891354-93891355	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs573164264	chr4:93891370-93891371	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:93865800-93895400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:93884400-93890600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:93889600-93891000	Enhancers	NHEK	skin
4	chr4:93889800-93891000	Enhancers	HMEC	breast
5	chr4:93889800-93891200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:93889800-93892400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:93889800-93892400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:93889800-93892400	Enhancers	HSMM	muscle
9	chr4:93889800-93892400	Enhancers	NH-A	brain
10	chr4:93890000-93890600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:93890000-93890600	Enhancers	A549	lung
12	chr4:93890000-93890600	Enhancers	Hela-S3	cervix
13	chr4:93890000-93891000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:93890000-93891800	Enhancers	NHDF-Ad	bronchial
15	chr4:93890400-93890600	Enhancers	Liver	Liver
16	chr4:93890400-93891400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:93890400-93892000	Enhancers	HepG2	liver
18	chr4:93890600-93891000	Flanking Active TSS	Liver	Liver
19	chr4:93890600-93891000	Flanking Active TSS	A549	lung
20	chr4:93890600-93891400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:93890600-93891600	Weak transcription	Hela-S3	cervix
22	chr4:93890600-93891800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:93890600-93892000	Enhancers	HUVEC	blood vessel
24	chr4:93890600-93892400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr4:93891000-93891400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:93891000-93891400	Active TSS	A549	lung
27	chr4:93891000-93892000	Enhancers	Liver	Liver
28	chr4:93891200-93891400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr4:93891400-93892400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:93891400-93892400	Enhancers	A549	lung
31	chr4:93891600-93892000	Enhancers	Hela-S3	cervix
32	chr4:93900800-93901000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:93909200-93910200	Enhancers	Liver	Liver
34	chr4:93909200-93910200	Enhancers	Fetal Intestine Large	intestine
35	chr4:93909400-93909600	Enhancers	Fetal Intestine Small	intestine
36	chr4:93909600-93910000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:93909600-93913800	Weak transcription	Fetal Intestine Small	intestine
38	chr4:93910200-93912400	Weak transcription	Liver	Liver

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