Variant report

Variant	esv3413723
Chromosome Location	chr6:109541684-109544232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:109542960..109544899-chr6:109700564..109702558,2	K562	blood:
2	chr6:109541416..109543560-chr6:109616012..109618470,2	MCF-7	breast:
3	chr6:109544188..109545945-chr6:109546253..109548753,2	MCF-7	breast:
4	chr6:109542871..109545801-chr6:109546672..109548924,2	K562	blood:
5	chr6:109537846..109539361-chr6:109541996..109544593,2	MCF-7	breast:
6	chr6:109541946..109544521-chr6:109546672..109551149,4	K562	blood:
7	chr6:109540365..109541888-chr6:109549940..109552681,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135535	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534816906	chr6:109541694-109541695	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373430623	chr6:109541739-109541740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111392162	chr6:109541772-109541773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11153161	chr6:109541774-109541775	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs536131788	chr6:109541847-109541848	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149578982	chr6:109541887-109541888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184457344	chr6:109541937-109541938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534800372	chr6:109541944-109541945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558196194	chr6:109541994-109541995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569611783	chr6:109542068-109542069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577974808	chr6:109542081-109542082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543824467	chr6:109542087-109542088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563527054	chr6:109542092-109542093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574434576	chr6:109542103-109542104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75324702	chr6:109542161-109542162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144296530	chr6:109542180-109542181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528663378	chr6:109542259-109542260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551210589	chr6:109542266-109542267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565019955	chr6:109542333-109542334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140869805	chr6:109542364-109542365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367600193	chr6:109542367-109542368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189743357	chr6:109542385-109542386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536143980	chr6:109542388-109542389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548676640	chr6:109542422-109542423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143202404	chr6:109542432-109542433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566343292	chr6:109542450-109542451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147523142	chr6:109542479-109542480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375197143	chr6:109542491-109542492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112197665	chr6:109542507-109542508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537148081	chr6:109542586-109542587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557329439	chr6:109542616-109542617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200362262	chr6:109542625-109542626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181226871	chr6:109542654-109542655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111762044	chr6:109542655-109542656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543359276	chr6:109542657-109542658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560062010	chr6:109542661-109542662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573556614	chr6:109542662-109542663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369846979	chr6:109542665-109542666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113597700	chr6:109542753-109542754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113579192	chr6:109542839-109542840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545618110	chr6:109542940-109542941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565328720	chr6:109542960-109542961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375731110	chr6:109542998-109542999	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543925031	chr6:109543033-109543034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142994945	chr6:109543090-109543091	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs529606848	chr6:109543100-109543101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs546510677	chr6:109543135-109543136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs830554	chr6:109543226-109543227	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs112103636	chr6:109543317-109543318	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552397775	chr6:109543341-109543342	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
small cell lung cancer	20016488	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
abnormal development	18461090	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
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109517200-109544800	Weak transcription	Psoas Muscle	Psoas
2	chr6:109535200-109543000	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr6:109535200-109544000	Weak transcription	Aorta	Aorta
4	chr6:109535200-109545800	Weak transcription	Right Atrium	heart
5	chr6:109536000-109550800	Weak transcription	HSMMtube	muscle
6	chr6:109541600-109542000	Enhancers	Fetal Thymus	thymus
7	chr6:109541600-109542000	Enhancers	K562	blood
8	chr6:109541600-109542400	Enhancers	Primary T cells from cord blood	blood
9	chr6:109541600-109542400	Enhancers	Stomach Mucosa	stomach
10	chr6:109541600-109543200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:109541600-109543400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:109541800-109542000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr6:109541800-109542200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:109541800-109542200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:109541800-109542200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:109541800-109542400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:109541800-109542400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr6:109541800-109542400	Enhancers	Adipose Nuclei	Adipose
19	chr6:109541800-109542400	Enhancers	Fetal Kidney	kidney
20	chr6:109541800-109542400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr6:109541800-109542600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:109542000-109542400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr6:109542000-109544000	Weak transcription	K562	blood
24	chr6:109542000-109545400	Weak transcription	Fetal Thymus	thymus
25	chr6:109542200-109543400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:109542400-109542800	Weak transcription	Adipose Nuclei	Adipose
27	chr6:109542400-109544000	Weak transcription	Primary T cells from cord blood	blood
28	chr6:109542400-109544000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:109542400-109547800	Weak transcription	Stomach Mucosa	stomach
30	chr6:109542800-109543200	Enhancers	Fetal Heart	heart
31	chr6:109542800-109543400	Enhancers	Adipose Nuclei	Adipose
32	chr6:109543000-109543200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr6:109543200-109543600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr6:109543400-109544200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:109543600-109544000	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr6:109544000-109544200	Enhancers	Aorta	Aorta
37	chr6:109544000-109544200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr6:109544000-109544200	Enhancers	K562	blood
39	chr6:109544000-109544600	Enhancers	Primary T cells from cord blood	blood
40	chr6:109544000-109544800	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr6:109544200-109544800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr6:109544200-109546800	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links