Variant report

Variant	esv12713
Chromosome Location	chr6:55964651-55965665
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	chr6:55964932..55967397-chr6:55975389..55977144,2	MCF-7	breast:
2	chr22:21977904..21980225-chr6:55963610..55966434,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62411453	chr6:55964651-55964652	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559415500	chr6:55964678-55964679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76354798	chr6:55964679-55964680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12203653	chr6:55964693-55964694	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs183140604	chr6:55964751-55964752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185379428	chr6:55964757-55964758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561707120	chr6:55964792-55964793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149925166	chr6:55964819-55964820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578011001	chr6:55964889-55964890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543475828	chr6:55964904-55964905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76537001	chr6:55964912-55964913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs58584994	chr6:55964914-55964915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542544808	chr6:55964929-55964930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190688649	chr6:55964950-55964951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528313551	chr6:55964952-55964953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551509651	chr6:55964974-55964975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372647997	chr6:55964997-55964998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12212135	chr6:55965006-55965007	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530598286	chr6:55965046-55965047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12212143	chr6:55965055-55965056	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182741694	chr6:55965093-55965094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375245265	chr6:55965159-55965160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536232093	chr6:55965195-55965196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549743590	chr6:55965200-55965201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367730520	chr6:55965214-55965215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147912524	chr6:55965245-55965246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558304592	chr6:55965364-55965365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578045693	chr6:55965393-55965394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537587980	chr6:55965449-55965450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4295483	chr6:55965456-55965457	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573747268	chr6:55965480-55965481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187763064	chr6:55965490-55965491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542604967	chr6:55965553-55965554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559228877	chr6:55965555-55965556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs386701414	chr6:55965646-55965647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:55920600-56018400	Weak transcription	Ovary	ovary
2	chr6:55956600-55965800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:55956600-55978400	Weak transcription	Aorta	Aorta
4	chr6:55956800-55965600	Weak transcription	NHLF	lung
5	chr6:55958200-55965600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:55959600-55969600	Weak transcription	Fetal Lung	lung
7	chr6:55960600-55977800	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:55960600-55978000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:55961400-55969600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:55962200-55965600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:55962200-55977200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr6:55962400-55964800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:55962400-55965200	Weak transcription	NHDF-Ad	bronchial
14	chr6:55962400-55965800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:55962600-55965800	Weak transcription	HUVEC	blood vessel
16	chr6:55963800-55967400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:55964200-55967200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr6:55964400-55966800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:55964400-55968000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr6:55964800-55967800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:55965000-55965800	Enhancers	A549	lung
22	chr6:55965200-55967400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:55965200-55967600	Enhancers	NHDF-Ad	bronchial
24	chr6:55965200-55967800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr6:55965400-55966600	Enhancers	NH-A	brain
26	chr6:55965400-55967400	Enhancers	HSMMtube	muscle
27	chr6:55965600-55966400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:55965600-55966400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr6:55965600-55966400	Enhancers	NHEK	skin
30	chr6:55965600-55966600	Enhancers	NHLF	lung
31	chr6:55965600-55967200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:55965600-55967400	Enhancers	Hela-S3	cervix
33	chr6:55965600-55967400	Enhancers	HSMM	muscle
34	chr6:55965600-55967400	Enhancers	Osteobl	bone
35	chr6:55965600-55967800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links