Variant report

Variant	esv3445149
Chromosome Location	chr6:110449308-110474569
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	chr6:110474212..110476243-chr6:110478588..110481984,3	K562	blood:

Extended variants
information (count: 1004 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:1004 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541172124	chr6:110449410-110449411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78340255	chr6:110449548-110449549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78342256	chr6:110449570-110449571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181808765	chr6:110449589-110449590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs369161462	chr6:110449645-110449646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372049602	chr6:110449650-110449651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141505268	chr6:110449733-110449734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563770527	chr6:110449755-110449756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552659317	chr6:110449766-110449767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76731695	chr6:110449781-110449782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185233900	chr6:110449786-110449787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565863989	chr6:110449794-110449795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543053228	chr6:110449801-110449802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190770145	chr6:110449806-110449807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534939435	chr6:110449829-110449830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182626822	chr6:110449885-110449886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571232088	chr6:110449907-110449908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369878183	chr6:110449931-110449932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35403992	chr6:110449932-110449933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112214459	chr6:110449948-110449949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74375333	chr6:110449991-110449992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531898633	chr6:110449993-110449994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368505584	chr6:110450035-110450036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573392457	chr6:110450046-110450047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561647441	chr6:110450080-110450081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548457871	chr6:110450099-110450100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535686687	chr6:110450159-110450160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116064636	chr6:110450169-110450170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548355800	chr6:110450192-110450193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572515898	chr6:110450194-110450195	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76865842	chr6:110450212-110450213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566772629	chr6:110450229-110450230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114617721	chr6:110450303-110450304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578007861	chr6:110450304-110450305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137918433	chr6:110450373-110450374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527878070	chr6:110450407-110450408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563809776	chr6:110450417-110450418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529387226	chr6:110450426-110450427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549471922	chr6:110450435-110450436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149472361	chr6:110450458-110450459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528234010	chr6:110450489-110450490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188021655	chr6:110450577-110450578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191296469	chr6:110450593-110450594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs6899430	chr6:110450608-110450609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34862965	chr6:110450625-110450626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550145411	chr6:110450627-110450628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183115850	chr6:110450658-110450659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547527467	chr6:110450661-110450662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552757665	chr6:110450690-110450691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566269919	chr6:110450704-110450705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
Bipolar disorder	19114987	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110419000-110449600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:110419000-110461800	Weak transcription	HSMMtube	muscle
3	chr6:110419200-110449600	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:110423400-110450000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:110423400-110459000	Weak transcription	Fetal Stomach	stomach
6	chr6:110423400-110459200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:110423400-110459200	Weak transcription	Aorta	Aorta
8	chr6:110425000-110456400	Weak transcription	HUVEC	blood vessel
9	chr6:110427600-110459600	Weak transcription	NHEK	skin
10	chr6:110428200-110450000	Weak transcription	HepG2	liver
11	chr6:110429800-110453600	Weak transcription	Liver	Liver
12	chr6:110429800-110459200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:110430000-110449800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:110430000-110452200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr6:110430400-110450200	Weak transcription	NHDF-Ad	bronchial
16	chr6:110431400-110459200	Weak transcription	HSMM	muscle
17	chr6:110436600-110449600	Weak transcription	Brain Anterior Caudate	brain
18	chr6:110436800-110449600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr6:110438000-110449800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:110438000-110449800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:110438000-110459200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:110441600-110463400	Weak transcription	A549	lung
23	chr6:110443200-110449800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:110443400-110449800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:110443400-110452200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr6:110443800-110449800	Weak transcription	Fetal Brain Male	brain
27	chr6:110443800-110459200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:110444000-110449600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:110444000-110449800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:110444000-110483800	Weak transcription	Fetal Kidney	kidney
31	chr6:110444200-110450000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:110444200-110459200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:110444200-110459200	Weak transcription	Ovary	ovary
34	chr6:110444600-110462000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:110445200-110450000	Weak transcription	Fetal Brain Female	brain
36	chr6:110445200-110459000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr6:110445200-110482400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:110445400-110449800	Weak transcription	Fetal Lung	lung
39	chr6:110445800-110451800	Weak transcription	Brain Germinal Matrix	brain
40	chr6:110446600-110458600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:110446800-110449600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:110446800-110450000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:110447000-110458600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr6:110447200-110459200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:110447200-110461200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:110447400-110449800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:110448200-110449600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:110448200-110450600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:110448200-110459200	Weak transcription	Primary B cells from cord blood	blood
50	chr6:110448600-110452200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links