Variant report

Variant	esv3326106
Chromosome Location	chr1:217270420-217271648
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	chr1:217262623..217264529-chr1:217271593..217273634,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196482	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578236336	chr1:217270421-217270422	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538302835	chr1:217270424-217270425	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143864893	chr1:217270439-217270440	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557438233	chr1:217270473-217270474	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12034683	chr1:217270475-217270476	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs543030375	chr1:217270479-217270480	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146853944	chr1:217270480-217270481	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527568408	chr1:217270524-217270525	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540956813	chr1:217270527-217270528	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375122994	chr1:217270558-217270559	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551750803	chr1:217270599-217270600	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201604665	chr1:217270632-217270633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567394611	chr1:217270633-217270634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12756259	chr1:217270643-217270644	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs830307	chr1:217270667-217270668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569753138	chr1:217270690-217270691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528847483	chr1:217270715-217270716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12137803	chr1:217270757-217270758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs12126987	chr1:217270794-217270795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs535331943	chr1:217270796-217270797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558528305	chr1:217270852-217270853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114976420	chr1:217270855-217270856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140638575	chr1:217270900-217270901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75484482	chr1:217270914-217270915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574096973	chr1:217270985-217270986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144304518	chr1:217271038-217271039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79689922	chr1:217271078-217271079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200005529	chr1:217271112-217271113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35118047	chr1:217271113-217271114	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs386639381	chr1:217271114-217271115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201118041	chr1:217271115-217271116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564039430	chr1:217271132-217271133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181689689	chr1:217271149-217271150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185065959	chr1:217271168-217271169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368950995	chr1:217271185-217271186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs5780964	chr1:217271186-217271187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34051845	chr1:217271202-217271203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189479224	chr1:217271250-217271251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563478810	chr1:217271266-217271267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181027472	chr1:217271270-217271271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576363348	chr1:217271283-217271284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545452324	chr1:217271315-217271316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563369407	chr1:217271338-217271339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145242544	chr1:217271362-217271363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11808948	chr1:217271374-217271375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs830313	chr1:217271395-217271396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549144280	chr1:217271398-217271399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565669434	chr1:217271448-217271449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528101730	chr1:217271459-217271460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61816747	chr1:217271481-217271482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217264000-217271800	Weak transcription	Pancreas	Pancrea
2	chr1:217264400-217270800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:217266200-217271200	Weak transcription	Fetal Heart	heart
4	chr1:217266200-217271400	Weak transcription	Fetal Intestine Small	intestine
5	chr1:217266200-217271800	Weak transcription	Fetal Intestine Large	intestine
6	chr1:217269600-217270600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:217270400-217270600	Enhancers	Fetal Muscle Leg	muscle
8	chr1:217270400-217271400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:217270600-217272200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:217270600-217278200	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:217271000-217271400	Enhancers	Adipose Nuclei	Adipose
12	chr1:217271400-217271600	Enhancers	Fetal Heart	heart
13	chr1:217271400-217272000	Enhancers	Sigmoid Colon	Sigmoid Colon

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