Variant report

Variant	esv2484840
Chromosome Location	chr6:128056080-128056455
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71543123	chr6:128056083-128056084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574514459	chr6:128056103-128056104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563903085	chr6:128056124-128056125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370188018	chr6:128056125-128056126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542129697	chr6:128056126-128056127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73595717	chr6:128056133-128056134	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs527294134	chr6:128056163-128056164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs368177381	chr6:128056204-128056205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538289165	chr6:128056209-128056210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183445690	chr6:128056210-128056211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578252431	chr6:128056253-128056254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187885606	chr6:128056263-128056264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6934865	chr6:128056302-128056303	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs377293163	chr6:128056374-128056375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35158225	chr6:128056380-128056381	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs192661353	chr6:128056392-128056393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs977948	chr6:128056411-128056412	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543011794	chr6:128056414-128056415	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568683368	chr6:128056430-128056431	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128039800-128069200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:128045600-128069200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:128047200-128082400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr6:128047600-128060800	Weak transcription	Thymus	Thymus
5	chr6:128052600-128058200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:128053800-128057800	Strong transcription	Fetal Thymus	thymus
7	chr6:128054200-128058200	Weak transcription	Stomach Mucosa	stomach
8	chr6:128054400-128058600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:128055200-128056200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr6:128055200-128056400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:128055200-128069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:128055600-128057800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:128055600-128058200	Weak transcription	Primary T cells from cord blood	blood
14	chr6:128055600-128058400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:128055800-128058400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:128056200-128056800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr6:128056400-128056600	Enhancers	Fetal Brain Male	brain
18	chr6:128056400-128060400	Enhancers	Primary T helper cells PMA-I stimulated	--

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