Variant report

Variant	esv3473262
Chromosome Location	chr6:121808803-121809266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191805614	chr6:121808821-121808822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528648863	chr6:121808853-121808854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541963408	chr6:121808931-121808932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561796430	chr6:121808932-121808933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7742729	chr6:121808933-121808934	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142086726	chr6:121808940-121808941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550663937	chr6:121808944-121808945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569953210	chr6:121808991-121808992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532330746	chr6:121809007-121809008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552483833	chr6:121809016-121809017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568536529	chr6:121809057-121809058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7743275	chr6:121809074-121809075	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs184307269	chr6:121809080-121809081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140538627	chr6:121809097-121809098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550649073	chr6:121809121-121809122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570927520	chr6:121809135-121809136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113367345	chr6:121809162-121809163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556657331	chr6:121809196-121809197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11381312	chr6:121809203-121809204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397963328	chr6:121809213-121809214	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367635004	chr6:121809214-121809215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	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
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Ovarian cancer	21781307	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Adenoid cystic carcinoma	18332873	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121806600-121809600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:121807000-121809600	Weak transcription	NHEK	skin
3	chr6:121807000-121812600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:121807200-121809200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:121807400-121809000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:121807400-121812600	Weak transcription	Hela-S3	cervix
7	chr6:121807400-121824400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:121808200-121810000	Enhancers	A549	lung
9	chr6:121808400-121809000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:121808400-121809000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:121808400-121810000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:121808400-121810000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:121808400-121810400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:121808400-121810400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:121808600-121809200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:121808600-121809800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:121808600-121809800	Enhancers	HMEC	breast
18	chr6:121808600-121810400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:121808800-121809000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:121808800-121809200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:121808800-121809200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr6:121808800-121809800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:121809000-121809400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:121809000-121809400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr6:121809000-121809400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr6:121809000-121810400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr6:121809200-121809400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:121809200-121809600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:121809200-121809600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:121809200-121810000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links