Variant report

Variant	esv1819890
Chromosome Location	chr6:75548441-75564691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:75557714-75557743	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr6:75558084-75558360	HepG2	liver:	n/a	chr6:75558204-75558215
3	CTCF	chr6:75553140-75553290	HPAF	blood vessel:	n/a	n/a
4	FOS	chr6:75561445-75561586	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr6:75561583-75561655	MCF10A-Er-Src	breast:	n/a	n/a
6	MAFK	chr6:75558666-75558812	HepG2	liver:	n/a	chr6:75558717-75558733 chr6:75558718-75558729
7	MYC	chr6:75561054-75561063	MCF-7	breast:	n/a	n/a
8	MYC	chr6:75561384-75561584	MCF10A-Er-Src	breast:	n/a	n/a
9	MYC	chr6:75561020-75561042	MCF-7	breast:	n/a	n/a
10	POLR2A	chr6:75553253-75553366	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr6:75552060-75552189	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr6:75554972-75555007	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr6:75556742-75556802	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr6:75550857-75550926	MCF-7	breast:	n/a	n/a
15	POLR2A	chr6:75561392-75561538	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr6:75552190-75552205	HUVEC	blood vessel:	n/a	n/a
17	STAT1	chr6:75561591-75561610	GM12878	blood:	n/a	n/a
18	STAT3	chr6:75564065-75564075	MCF10A-Er-Src	breast:	n/a	n/a
19	STAT3	chr6:75561429-75561969	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL12A1-2	chr6:75558793-75560200	NONHSAT113595

Variant related genes	Relation type
ENSG00000219736	TF binding region

Extended variants
information (count: 176 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147559883	chr6:75558853-75558854	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs111667152	chr6:75558905-75558906	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs191107167	chr6:75558906-75558907	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs4112829	chr6:75558947-75558948	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs536540315	chr6:75558979-75558980	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs6931755	chr6:75559018-75559019	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs77921955	chr6:75559038-75559039	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs567772011	chr6:75559095-75559096	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs183655483	chr6:75559110-75559111	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs533508659	chr6:75559160-75559161	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs558250372	chr6:75559172-75559173	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs11273741	chr6:75559176-75559177	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs58778690	chr6:75559180-75559181	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs140344544	chr6:75559205-75559206	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs186802001	chr6:75559217-75559218	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs572981741	chr6:75559255-75559256	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs12665138	chr6:75559262-75559263	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574530461	chr6:75559263-75559264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs4112828	chr6:75559265-75559266	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs114120026	chr6:75559281-75559282	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs528518982	chr6:75559287-75559288	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs540610661	chr6:75559297-75559298	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs191670339	chr6:75559313-75559314	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs555368388	chr6:75559314-75559315	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs6932300	chr6:75559326-75559327	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551202832	chr6:75559335-75559336	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs184889391	chr6:75559398-75559399	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs569353899	chr6:75559435-75559436	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs368625274	chr6:75559448-75559449	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs111347100	chr6:75559449-75559450	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs144492235	chr6:75559454-75559455	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs147859644	chr6:75559488-75559489	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs59360261	chr6:75559538-75559539	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs111657830	chr6:75559557-75559558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs6912253	chr6:75559564-75559565	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs570261671	chr6:75559588-75559589	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs190179943	chr6:75559595-75559596	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs563684530	chr6:75559668-75559669	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs556185545	chr6:75559672-75559673	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs79696382	chr6:75559732-75559733	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs34340545	chr6:75559746-75559747	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs535612118	chr6:75559769-75559770	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs35874335	chr6:75559781-75559782	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs150342669	chr6:75559813-75559814	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs572354839	chr6:75559814-75559815	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs181787004	chr6:75559843-75559844	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs143167278	chr6:75559912-75559913	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs373758896	chr6:75559914-75559915	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs565276633	chr6:75559932-75559933	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs55655559	chr6:75559956-75559957	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75561000-75561400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:75561000-75561400	Enhancers	Adipose Nuclei	Adipose
3	chr6:75561000-75561800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:75561000-75561800	Enhancers	NHDF-Ad	bronchial
5	chr6:75561000-75562200	Enhancers	HSMM	muscle
6	chr6:75561000-75562200	Enhancers	HSMMtube	muscle
7	chr6:75561000-75562400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:75561200-75561800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:75562200-75563400	Weak transcription	HSMM	muscle
10	chr6:75562400-75562800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:75562800-75563800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:75563000-75563600	Enhancers	Rectal Smooth Muscle	rectum
13	chr6:75563000-75564000	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr6:75563200-75563600	Enhancers	Ovary	ovary
15	chr6:75563200-75563800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:75563600-75563800	Enhancers	HSMM	muscle
17	chr6:75563600-75564400	Weak transcription	Ovary	ovary
18	chr6:75564400-75564600	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links