Variant report

Variant	esv3467222
Chromosome Location	chr4:81531081-81536062
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 164 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115251247	chr4:81531102-81531103	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192996031	chr4:81531162-81531163	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112567294	chr4:81531179-81531180	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532047871	chr4:81531222-81531223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545384867	chr4:81531262-81531263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565155749	chr4:81531304-81531305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs398051205	chr4:81531354-81531355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35304952	chr4:81531355-81531356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs397994199	chr4:81531362-81531363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550973485	chr4:81531373-81531374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs141875001	chr4:81531407-81531408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150621008	chr4:81531416-81531417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546802452	chr4:81531475-81531476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566198058	chr4:81531523-81531524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538369612	chr4:81531531-81531532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545116734	chr4:81531566-81531567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558647740	chr4:81531571-81531572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190512753	chr4:81531601-81531602	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181802466	chr4:81531632-81531633	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139668345	chr4:81531771-81531772	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574786688	chr4:81531790-81531791	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114998668	chr4:81531797-81531798	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs199668509	chr4:81531853-81531854	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554023972	chr4:81531892-81531893	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573345468	chr4:81531917-81531918	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545147652	chr4:81531920-81531921	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375097800	chr4:81531926-81531927	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117103043	chr4:81531975-81531976	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186140363	chr4:81531981-81531982	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544599436	chr4:81532040-81532041	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188209236	chr4:81532064-81532065	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530345188	chr4:81532074-81532075	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77854126	chr4:81532094-81532095	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs923178	chr4:81532108-81532109	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs180690316	chr4:81532187-81532188	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577381420	chr4:81532193-81532194	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551977040	chr4:81532220-81532221	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144154620	chr4:81532233-81532234	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186532557	chr4:81532272-81532273	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373533880	chr4:81532274-81532275	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568325197	chr4:81532301-81532302	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534100216	chr4:81532316-81532317	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554134057	chr4:81532329-81532330	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577093765	chr4:81532368-81532369	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150483746	chr4:81532466-81532467	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539656483	chr4:81532490-81532491	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530270346	chr4:81532495-81532496	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546726183	chr4:81532511-81532512	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557911170	chr4:81532523-81532524	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558737685	chr4:81532531-81532532	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81530200-81531400	Weak transcription	Fetal Intestine Large	intestine
2	chr4:81530400-81531600	Weak transcription	Osteobl	bone
3	chr4:81530600-81532000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:81531000-81531200	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr4:81531000-81531200	Enhancers	Colon Smooth Muscle	Colon
6	chr4:81531200-81531600	Enhancers	Primary B cells from cord blood	blood
7	chr4:81531200-81532400	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:81531200-81533200	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:81531400-81532800	Enhancers	Duodenum Mucosa	Duodenum
10	chr4:81531400-81533200	Enhancers	Fetal Intestine Large	intestine
11	chr4:81531400-81533200	Enhancers	Fetal Intestine Small	intestine
12	chr4:81531400-81533200	Enhancers	GM12878-XiMat	blood
13	chr4:81531400-81535000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr4:81531600-81532200	Enhancers	Osteobl	bone
15	chr4:81531600-81533000	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr4:81532000-81532400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:81532000-81532400	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:81532000-81532400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:81532000-81532400	Enhancers	Stomach Mucosa	stomach
20	chr4:81532000-81532400	Enhancers	NHDF-Ad	bronchial
21	chr4:81532000-81532800	Enhancers	Primary T cells from cord blood	blood
22	chr4:81532000-81532800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr4:81532000-81532800	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr4:81532000-81533000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr4:81532200-81532400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:81532200-81533000	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr4:81532400-81532800	Enhancers	Colon Smooth Muscle	Colon
28	chr4:81532400-81532800	Weak transcription	Stomach Mucosa	stomach
29	chr4:81532800-81533000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr4:81532800-81533000	Enhancers	Stomach Mucosa	stomach
31	chr4:81532800-81533200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr4:81533000-81533600	Enhancers	Primary B cells from cord blood	blood
33	chr4:81533000-81534200	Weak transcription	Stomach Mucosa	stomach
34	chr4:81533000-81534400	Enhancers	Duodenum Mucosa	Duodenum
35	chr4:81533200-81534000	Weak transcription	Fetal Intestine Small	intestine
36	chr4:81533200-81536800	Weak transcription	Fetal Intestine Large	intestine
37	chr4:81534000-81535000	Enhancers	Fetal Intestine Small	intestine
38	chr4:81534200-81535800	Enhancers	Stomach Mucosa	stomach
39	chr4:81534600-81535000	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr4:81534600-81536000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr4:81535400-81536000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr4:81535600-81535800	Bivalent Enhancer	Gastric	stomach
43	chr4:81535800-81536800	Weak transcription	Stomach Mucosa	stomach

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