Variant report

Variant	nsv945634
Chromosome Location	chr1:215718075-215720233
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	chr1:215718496..215720254-chr1:215739655..215742103,3	MCF-7	breast:
2	chr1:215655508..215656065-chr1:215718108..215718963,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136636	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186926667	chr1:215718088-215718089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541931674	chr1:215718101-215718102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566232944	chr1:215718150-215718151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546307146	chr1:215718240-215718241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527407049	chr1:215718241-215718242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370388624	chr1:215718294-215718295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116614268	chr1:215718295-215718296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376442669	chr1:215718300-215718301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533030153	chr1:215718359-215718360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550093094	chr1:215718444-215718445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190120657	chr1:215718452-215718453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535297641	chr1:215718456-215718457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373334848	chr1:215718469-215718470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565807332	chr1:215718501-215718502	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535134745	chr1:215718553-215718554	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs557825778	chr1:215718558-215718559	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs115191634	chr1:215718619-215718620	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537335571	chr1:215718625-215718626	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs557670593	chr1:215718647-215718648	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs115693378	chr1:215718662-215718663	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs73083482	chr1:215718666-215718667	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553622389	chr1:215718684-215718685	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145375462	chr1:215718686-215718687	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs111361371	chr1:215718699-215718700	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs560294760	chr1:215718725-215718726	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538032539	chr1:215718747-215718748	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs73083483	chr1:215718766-215718767	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs532982112	chr1:215718801-215718802	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543333508	chr1:215718821-215718822	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs181179007	chr1:215718848-215718849	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs529171709	chr1:215718865-215718866	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548732606	chr1:215718885-215718886	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556850295	chr1:215718886-215718887	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs565545818	chr1:215718983-215718984	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs73083485	chr1:215718991-215718992	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs185586518	chr1:215718997-215718998	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551891894	chr1:215718998-215718999	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs73083488	chr1:215719099-215719100	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs537481805	chr1:215719115-215719116	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs142534869	chr1:215719141-215719142	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573741376	chr1:215719153-215719154	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536956905	chr1:215719170-215719171	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs553559186	chr1:215719200-215719201	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542262516	chr1:215719242-215719243	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573523626	chr1:215719269-215719270	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs190296623	chr1:215719296-215719297	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs554160478	chr1:215719321-215719322	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs572579887	chr1:215719452-215719453	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543377931	chr1:215719458-215719459	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564527311	chr1:215719462-215719463	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	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
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215715000-215719600	Enhancers	Colon Smooth Muscle	Colon
2	chr1:215717800-215718800	Enhancers	Rectal Smooth Muscle	rectum
3	chr1:215718800-215720200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:215719600-215721000	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:215720200-215722000	Enhancers	Rectal Smooth Muscle	rectum

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