Variant report

Variant	esv3437260
Chromosome Location	chr6:55407243-55409091
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	chr6:55408291..55411136-chr6:55443086..55445470,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146151	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531781839	chr6:55407243-55407244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548411825	chr6:55407244-55407245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374500090	chr6:55407299-55407300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568224909	chr6:55407334-55407335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534100327	chr6:55407362-55407363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573128786	chr6:55407386-55407387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529998005	chr6:55407394-55407395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539059572	chr6:55407435-55407436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556079128	chr6:55407500-55407501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542338941	chr6:55407508-55407509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541876134	chr6:55407532-55407533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554766461	chr6:55407563-55407564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192847440	chr6:55407564-55407565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4520017	chr6:55407592-55407593	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs373445022	chr6:55407596-55407597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377279324	chr6:55407598-55407599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs70986730	chr6:55407599-55407600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139010313	chr6:55407617-55407618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12198763	chr6:55407636-55407637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs4475324	chr6:55407652-55407653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562858679	chr6:55407673-55407674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531726067	chr6:55407678-55407679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12212388	chr6:55407783-55407784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568288317	chr6:55407797-55407798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540767762	chr6:55407798-55407799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527466797	chr6:55407800-55407801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547754219	chr6:55407828-55407829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562862403	chr6:55407838-55407839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533644715	chr6:55407887-55407888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111218637	chr6:55407893-55407894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111218635	chr6:55407895-55407896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368622295	chr6:55407896-55407897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12200276	chr6:55407897-55407898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62647314	chr6:55407898-55407899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372080775	chr6:55407900-55407901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375872157	chr6:55407903-55407904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367586680	chr6:55407908-55407909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185212629	chr6:55407909-55407910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375765843	chr6:55407914-55407915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62647316	chr6:55407916-55407917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372168912	chr6:55407917-55407918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367935999	chr6:55407924-55407925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370786824	chr6:55407940-55407941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374325706	chr6:55407947-55407948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6933515	chr6:55407954-55407955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6913447	chr6:55407955-55407956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs367729680	chr6:55407956-55407957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6933527	chr6:55407965-55407966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6913454	chr6:55407971-55407972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6933534	chr6:55407972-55407973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	16912164	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55384400-55410200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:55400400-55418600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:55404400-55407600	Weak transcription	Fetal Lung	lung
4	chr6:55408400-55408800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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