Variant report

Variant	esv20055
Chromosome Location	chr6:113777044-113778155
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9481357	chr6:113777044-113777045	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566172615	chr6:113777063-113777064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76503147	chr6:113777071-113777072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117708403	chr6:113777077-113777078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114805735	chr6:113777078-113777079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543984847	chr6:113777083-113777084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148196844	chr6:113777104-113777105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556060607	chr6:113777119-113777120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142067270	chr6:113777126-113777127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116593152	chr6:113777150-113777151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559848687	chr6:113777204-113777205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9372363	chr6:113777259-113777260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs73543865	chr6:113777292-113777293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs9481358	chr6:113777319-113777320	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34762871	chr6:113777363-113777364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151141287	chr6:113777382-113777383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558516899	chr6:113777400-113777401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114012232	chr6:113777405-113777406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557948447	chr6:113777465-113777466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188083584	chr6:113777514-113777515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532812957	chr6:113777515-113777516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576868799	chr6:113777522-113777523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548108539	chr6:113777569-113777570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181913749	chr6:113777594-113777595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536635620	chr6:113777603-113777604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186134568	chr6:113777622-113777623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114623938	chr6:113777637-113777638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2179118	chr6:113777642-113777643	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs191582199	chr6:113777697-113777698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577521287	chr6:113777729-113777730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367938424	chr6:113777740-113777741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367548911	chr6:113777743-113777744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs9488189	chr6:113777748-113777749	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs554023085	chr6:113777749-113777750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571977317	chr6:113777823-113777824	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs73765209	chr6:113777843-113777844	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560841708	chr6:113777855-113777856	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs2142641	chr6:113777858-113777859	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs182163639	chr6:113777875-113777876	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs565431051	chr6:113777888-113777889	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs9481359	chr6:113777914-113777915	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs547810986	chr6:113777915-113777916	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559975563	chr6:113777928-113777929	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs530061939	chr6:113777931-113777932	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs9488190	chr6:113777933-113777934	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs570063103	chr6:113777938-113777939	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs537102495	chr6:113777974-113777975	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs9488191	chr6:113777980-113777981	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571147791	chr6:113777996-113777997	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs564141337	chr6:113778054-113778055	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:113769800-113777800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:113770000-113778200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr6:113771400-113777800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:113771400-113779400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:113771600-113777800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:113771600-113782400	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:113772200-113777400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:113772200-113777800	Weak transcription	NHLF	lung
9	chr6:113772400-113777800	Weak transcription	HSMM	muscle
10	chr6:113772400-113785800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:113772600-113777800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:113772600-113778400	Weak transcription	Fetal Lung	lung
13	chr6:113774800-113777200	Weak transcription	NHDF-Ad	bronchial
14	chr6:113776600-113777400	Enhancers	Placenta	Placenta
15	chr6:113777200-113780000	Enhancers	NHDF-Ad	bronchial
16	chr6:113777200-113785600	Weak transcription	A549	lung
17	chr6:113777400-113777800	Weak transcription	Placenta	Placenta
18	chr6:113777400-113778000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:113777400-113779000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:113777400-113780000	Enhancers	HSMMtube	muscle
21	chr6:113777800-113778200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:113777800-113778600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:113777800-113778600	Enhancers	Lung	lung
24	chr6:113777800-113779000	Enhancers	Placenta	Placenta
25	chr6:113777800-113779000	Enhancers	Osteobl	bone
26	chr6:113777800-113779200	Enhancers	HUVEC	blood vessel
27	chr6:113777800-113780000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:113777800-113780000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:113777800-113780000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:113777800-113780000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:113777800-113780000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:113777800-113780000	Enhancers	HSMM	muscle
33	chr6:113777800-113780000	Enhancers	NHLF	lung
34	chr6:113777800-113780600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:113778000-113778400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr6:113778000-113778600	Enhancers	Right Atrium	heart
37	chr6:113778000-113780400	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links