Variant report

Variant	esv3419500
Chromosome Location	chr1:215384229-215387127
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555179126	chr1:215384238-215384239	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10458471	chr1:215384239-215384240	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540794389	chr1:215384246-215384247	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554049095	chr1:215384355-215384356	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142841936	chr1:215384378-215384379	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182090008	chr1:215384449-215384450	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564538983	chr1:215384466-215384467	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530661780	chr1:215384481-215384482	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543984670	chr1:215384526-215384527	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561008440	chr1:215384610-215384611	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529850230	chr1:215384629-215384630	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546732485	chr1:215384644-215384645	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566811962	chr1:215384771-215384772	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145019652	chr1:215384780-215384781	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377364799	chr1:215384795-215384796	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552631669	chr1:215384862-215384863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373823971	chr1:215384895-215384896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569260359	chr1:215384966-215384967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559189518	chr1:215384987-215384988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577231519	chr1:215385017-215385018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369589846	chr1:215385051-215385052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538204740	chr1:215385094-215385095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78022665	chr1:215385116-215385117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574955881	chr1:215385122-215385123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568496516	chr1:215385141-215385142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115805869	chr1:215385260-215385261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544559376	chr1:215385286-215385287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28444342	chr1:215385321-215385322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553939070	chr1:215385349-215385350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186728231	chr1:215385351-215385352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141870850	chr1:215385395-215385396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192431472	chr1:215385398-215385399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575150537	chr1:215385464-215385465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114399188	chr1:215385524-215385525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560827690	chr1:215385551-215385552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543997448	chr1:215385555-215385556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574465042	chr1:215385610-215385611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563781356	chr1:215385633-215385634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs540478733	chr1:215385649-215385650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200684091	chr1:215385650-215385651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116538926	chr1:215385759-215385760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532484187	chr1:215385790-215385791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552516528	chr1:215385813-215385814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373077705	chr1:215385912-215385913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531612856	chr1:215386056-215386057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548525236	chr1:215386064-215386065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12031738	chr1:215386154-215386155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs28739371	chr1:215386167-215386168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568503918	chr1:215386173-215386174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs79628920	chr1:215386238-215386239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215375000-215387200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:215380600-215408000	Weak transcription	Osteobl	bone
3	chr1:215383600-215384800	Strong transcription	NHDF-Ad	bronchial
4	chr1:215384200-215384800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:215384800-215388800	Weak transcription	NHDF-Ad	bronchial
6	chr1:215384800-215391200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:215385400-215389600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:215386000-215386600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:215386200-215386600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:215386400-215386600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:215386600-215388200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:215386600-215388400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:215386600-215388800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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