Variant report

Variant	esv3360898
Chromosome Location	chr6:2418403-2425101
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	chr6:2424842..2426390-chr6:2428236..2430027,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372969171	chr6:2418582-2418583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377003146	chr6:2418716-2418717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369923165	chr6:2418725-2418726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373378888	chr6:2418913-2418914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544902096	chr6:2418931-2418932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376304883	chr6:2419145-2419146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200666908	chr6:2419167-2419168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564792498	chr6:2419177-2419178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201996544	chr6:2419538-2419539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572843888	chr6:2420492-2420493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200128055	chr6:2420676-2420677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373991868	chr6:2420848-2420849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200742158	chr6:2421047-2421048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538629272	chr6:2421163-2421164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201393621	chr6:2421221-2421222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200016401	chr6:2421857-2421858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181491792	chr6:2422172-2422173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113505686	chr6:2422798-2422799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs202154334	chr6:2423188-2423189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377109055	chr6:2423333-2423334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575460816	chr6:2423672-2423673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543768225	chr6:2423686-2423687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563551749	chr6:2423689-2423690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374172347	chr6:2423710-2423711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549531425	chr6:2423814-2423815	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559975166	chr6:2423849-2423850	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528741079	chr6:2423866-2423867	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552005255	chr6:2423871-2423872	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112415388	chr6:2423873-2423874	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571868447	chr6:2423882-2423883	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537359730	chr6:2423900-2423901	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4959665	chr6:2423947-2423948	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183825418	chr6:2423961-2423962	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12199363	chr6:2423975-2423976	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs71552122	chr6:2423980-2423981	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs376088532	chr6:2423985-2423986	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572609576	chr6:2423998-2423999	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538408593	chr6:2424000-2424001	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545549323	chr6:2424005-2424006	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558348710	chr6:2424016-2424017	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575465235	chr6:2424017-2424018	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544205286	chr6:2424018-2424019	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114841388	chr6:2424028-2424029	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573988537	chr6:2424040-2424041	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193097415	chr6:2424041-2424042	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34701095	chr6:2424042-2424043	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559837667	chr6:2424101-2424102	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115615073	chr6:2424103-2424104	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545583113	chr6:2424112-2424113	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182156481	chr6:2424161-2424162	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Uveal melanoma	20484589	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2399800-2449200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:2401200-2421000	Weak transcription	Fetal Intestine Large	intestine
3	chr6:2401400-2426200	Weak transcription	Aorta	Aorta
4	chr6:2402200-2449200	Weak transcription	Left Ventricle	heart
5	chr6:2414600-2434600	Weak transcription	Fetal Intestine Small	intestine
6	chr6:2414600-2452000	Weak transcription	Ovary	ovary
7	chr6:2414800-2448800	Weak transcription	Liver	Liver
8	chr6:2414800-2449200	Weak transcription	Fetal Stomach	stomach
9	chr6:2416000-2427400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:2417600-2454200	Weak transcription	Pancreas	Pancrea
11	chr6:2423800-2424200	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:2424600-2425200	Weak transcription	Primary hematopoietic stem cells	blood

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