Variant report

Variant	esv3344043
Chromosome Location	chr6:113884509-113886407
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	chr6:113879729..113882473-chr6:113886043..113888473,2	MCF-7	breast:

Extended variants
information (count: 65 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193277701	chr6:113884525-113884526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183660353	chr6:113884529-113884530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537554961	chr6:113884567-113884568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148121067	chr6:113884573-113884574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578126940	chr6:113884628-113884629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528197607	chr6:113884686-113884687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140987731	chr6:113884689-113884690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554393654	chr6:113884732-113884733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556020368	chr6:113884741-113884742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34104742	chr6:113884762-113884763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187534736	chr6:113884770-113884771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543337117	chr6:113884783-113884784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541840866	chr6:113884935-113884936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561305213	chr6:113884945-113884946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576343049	chr6:113885051-113885052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543553890	chr6:113885070-113885071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565350554	chr6:113885090-113885091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532996966	chr6:113885117-113885118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9400632	chr6:113885205-113885206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs67465325	chr6:113885244-113885245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559851456	chr6:113885247-113885248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35990786	chr6:113885249-113885250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544957816	chr6:113885255-113885256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563177499	chr6:113885258-113885259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541736229	chr6:113885276-113885277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559913064	chr6:113885285-113885286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527620876	chr6:113885288-113885289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548825414	chr6:113885291-113885292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs202124292	chr6:113885299-113885300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566927393	chr6:113885300-113885301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537822605	chr6:113885326-113885327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544427859	chr6:113885327-113885328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11967439	chr6:113885348-113885349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9400633	chr6:113885354-113885355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571357166	chr6:113885360-113885361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs58891033	chr6:113885362-113885363	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554450864	chr6:113885380-113885381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572665211	chr6:113885442-113885443	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs562078319	chr6:113885483-113885484	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs75089932	chr6:113885494-113885495	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs75836399	chr6:113885495-113885496	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs115402913	chr6:113885597-113885598	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs13220006	chr6:113885643-113885644	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555253095	chr6:113885734-113885735	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575199376	chr6:113885793-113885794	Flanking Active TSS Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576380255	chr6:113885855-113885856	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs543764461	chr6:113885899-113885900	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs369988515	chr6:113885962-113885963	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs565118892	chr6:113885966-113885967	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs577315381	chr6:113885984-113885985	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

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
Acute lymphoblastic leukemia	17443227	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
Leukemia	18688285	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
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:113876600-113885600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr6:113877600-113885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:113878800-113885600	Weak transcription	Fetal Intestine Small	intestine
4	chr6:113879600-113885600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:113879800-113885600	Weak transcription	Fetal Brain Female	brain
6	chr6:113880000-113885000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:113880000-113885800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr6:113880400-113885600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr6:113880400-113885600	Weak transcription	Ovary	ovary
10	chr6:113880600-113885600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:113880600-113885600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:113880600-113885800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr6:113880800-113885400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:113880800-113885600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr6:113880800-113885600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:113880800-113885600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:113880800-113885600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:113880800-113885600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:113881000-113885000	Weak transcription	Fetal Stomach	stomach
20	chr6:113881000-113885400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:113881000-113885600	Weak transcription	Colon Smooth Muscle	Colon
22	chr6:113881200-113885400	Weak transcription	Fetal Brain Male	brain
23	chr6:113881200-113885600	Weak transcription	Fetal Lung	lung
24	chr6:113882000-113885600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:113882400-113885600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:113882600-113885600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:113882800-113885400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:113882800-113885800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:113883000-113885400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:113883000-113885400	Weak transcription	Osteobl	bone
31	chr6:113883000-113885600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:113883000-113885600	Weak transcription	HSMMtube	muscle
33	chr6:113883000-113885600	Weak transcription	HUVEC	blood vessel
34	chr6:113883200-113885400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr6:113883200-113885400	Weak transcription	HSMM	muscle
36	chr6:113883200-113885600	Weak transcription	HMEC	breast
37	chr6:113883400-113885000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:113883600-113884600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:113883800-113885400	Enhancers	NHDF-Ad	bronchial
40	chr6:113884200-113884600	Enhancers	NH-A	brain
41	chr6:113884200-113884800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:113884200-113885400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:113884200-113885600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:113884200-113885600	Weak transcription	GM12878-XiMat	blood
45	chr6:113884400-113885400	Enhancers	HepG2	liver
46	chr6:113884400-113885600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:113884400-113885600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr6:113884400-113885600	Enhancers	NHLF	lung
49	chr6:113884400-113885800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:113884400-113885800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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