Variant report

Variant	esv3444134
Chromosome Location	chr6:121837149-121837659
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	chr6:121837230..121839698-chr6:121851080..121853527,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 110 )

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	rs149677722	chr6:121837152-121837153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570437446	chr6:121837191-121837192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544746380	chr6:121837214-121837215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539315572	chr6:121837261-121837262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34280744	chr6:121837268-121837269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552615513	chr6:121837277-121837278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371816459	chr6:121837283-121837284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9385199	chr6:121837314-121837315	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs566284634	chr6:121837380-121837381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371211118	chr6:121837386-121837387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77144333	chr6:121837387-121837388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9401411	chr6:121837391-121837392	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575158748	chr6:121837467-121837468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537868462	chr6:121837505-121837506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557750896	chr6:121837510-121837511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs578252076	chr6:121837542-121837543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560536146	chr6:121837566-121837567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527727350	chr6:121837580-121837581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76057443	chr6:121837587-121837588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190633502	chr6:121837588-121837589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369759706	chr6:121837597-121837598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574165553	chr6:121837608-121837609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79782802	chr6:121837627-121837628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374810274	chr6:121837659-121837660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Adenoid cystic carcinoma	18332873	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121828600-121841200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:121830600-121843200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:121832000-121841400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:121832000-121842000	Weak transcription	HMEC	breast
5	chr6:121832200-121840600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:121835200-121838800	Enhancers	HUVEC	blood vessel
7	chr6:121836400-121837600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:121836400-121838000	Enhancers	Osteobl	bone
9	chr6:121836600-121837200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:121836600-121838000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:121836600-121838200	Enhancers	NH-A	brain
12	chr6:121836800-121837200	Enhancers	A549	lung
13	chr6:121836800-121837400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:121837000-121837400	Enhancers	Dnd41	blood
15	chr6:121837000-121837600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:121837200-121840600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:121837200-121840600	Weak transcription	A549	lung
18	chr6:121837400-121838200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:121837400-121841000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:121837600-121842200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:121837600-121843000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links