Variant report

Variant	esv11304
Chromosome Location	chr6:55413583-55417605
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	chr6:55412158..55414482-chr6:55747955..55749467,2	MCF-7	breast:

Extended variants
information (count: 152 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546431617	chr6:55413586-55413587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78292980	chr6:55413591-55413592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539187253	chr6:55413645-55413646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556214132	chr6:55413692-55413693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182061869	chr6:55413765-55413766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185955593	chr6:55413773-55413774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554701294	chr6:55413819-55413820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145188264	chr6:55413833-55413834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574807122	chr6:55413842-55413843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543190570	chr6:55413851-55413852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540890369	chr6:55413922-55413923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113702498	chr6:55413949-55413950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386407143	chr6:55413950-55413951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560311318	chr6:55414081-55414082	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571656072	chr6:55414108-55414109	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs577156452	chr6:55414111-55414112	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs546023594	chr6:55414140-55414141	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs114546606	chr6:55414147-55414148	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs68117773	chr6:55414155-55414156	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs34826651	chr6:55414168-55414169	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs144469471	chr6:55414171-55414172	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs70986732	chr6:55414205-55414206	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs199783673	chr6:55414206-55414207	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs141293561	chr6:55414237-55414238	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs144727428	chr6:55414259-55414260	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs191077137	chr6:55414306-55414307	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs547648038	chr6:55414311-55414312	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs570392917	chr6:55414317-55414318	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs539415979	chr6:55414346-55414347	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs183222517	chr6:55414402-55414403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569420179	chr6:55414403-55414404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552867411	chr6:55414412-55414413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148939735	chr6:55414427-55414428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574952018	chr6:55414428-55414429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187882974	chr6:55414459-55414460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554440127	chr6:55414468-55414469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577218294	chr6:55414480-55414481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73451178	chr6:55414527-55414528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs72051533	chr6:55414566-55414567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs78277597	chr6:55414573-55414574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191191572	chr6:55414591-55414592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77742691	chr6:55414622-55414623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542317377	chr6:55414628-55414629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561892151	chr6:55414634-55414635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182525139	chr6:55414635-55414636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369295635	chr6:55414658-55414659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188388256	chr6:55414759-55414760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62407365	chr6:55414785-55414786	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564409943	chr6:55414820-55414821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567923306	chr6:55414821-55414822	Weak transcription Enhancers	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55400400-55418600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:55413400-55414400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:55414000-55414400	Active TSS	Right Atrium	heart
4	chr6:55414400-55415000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr6:55414800-55415600	Enhancers	Fetal Heart	heart
6	chr6:55415000-55415200	Enhancers	Right Atrium	heart
7	chr6:55415000-55421200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:55415600-55418800	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links