Variant report

Variant	esv3473317
Chromosome Location	chr6:128516046-128516816
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556822276	chr6:128516049-128516050	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs9375551	chr6:128516061-128516062	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs542311338	chr6:128516178-128516179	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs9388619	chr6:128516191-128516192	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs527641941	chr6:128516195-128516196	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546191867	chr6:128516264-128516265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565025232	chr6:128516301-128516302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532485326	chr6:128516351-128516352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550339955	chr6:128516395-128516396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74645638	chr6:128516419-128516420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182075957	chr6:128516475-128516476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547834626	chr6:128516494-128516495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186815364	chr6:128516508-128516509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78300422	chr6:128516512-128516513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190017831	chr6:128516519-128516520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564538347	chr6:128516563-128516564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569393408	chr6:128516642-128516643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528158468	chr6:128516694-128516695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543656146	chr6:128516702-128516703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545926943	chr6:128516705-128516706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546379070	chr6:128516741-128516742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148771348	chr6:128516744-128516745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370572223	chr6:128516765-128516766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558567368	chr6:128516770-128516771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21958427	CNVD
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21390271	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128465600-128523200	Weak transcription	Left Ventricle	heart
2	chr6:128488200-128565200	Weak transcription	Fetal Stomach	stomach
3	chr6:128490000-128520200	Weak transcription	Fetal Intestine Small	intestine
4	chr6:128492600-128567800	Weak transcription	Ovary	ovary
5	chr6:128494400-128526000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:128495000-128523400	Weak transcription	HSMMtube	muscle
7	chr6:128503200-128541800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:128505800-128523200	Weak transcription	Fetal Thymus	thymus
9	chr6:128505800-128525600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:128505800-128525600	Weak transcription	NHEK	skin
11	chr6:128505800-128538800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:128505800-128552200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:128506000-128523600	Weak transcription	HepG2	liver
14	chr6:128506000-128561000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:128510200-128518800	Weak transcription	Primary B cells from cord blood	blood
16	chr6:128510200-128521000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:128513600-128525600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:128513800-128516400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:128514000-128530600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:128515800-128516200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr6:128515800-128516800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:128515800-128517000	Enhancers	HMEC	breast
23	chr6:128516000-128524800	Weak transcription	HSMM	muscle
24	chr6:128516000-128530400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:128516200-128516600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr6:128516400-128516800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:128516600-128517800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr6:128516800-128526000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:128516800-128526000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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