Variant report

Variant	esv3419861
Chromosome Location	chr6:109942959-109944507
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	REST	chr6:109943091-109943176	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
AK9	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112008750	chr6:109943066-109943067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374250730	chr6:109943108-109943109	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs59405869	chr6:109943115-109943116	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs368310401	chr6:109943116-109943117	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs71018355	chr6:109943118-109943119	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs12193271	chr6:109943121-109943122	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs12193276	chr6:109943154-109943155	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs370468209	chr6:109943156-109943157	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs376483185	chr6:109943157-109943158	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs373208819	chr6:109943168-109943169	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs114555481	chr6:109943185-109943186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188549373	chr6:109943257-109943258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545748465	chr6:109943259-109943260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201423968	chr6:109943353-109943354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12206993	chr6:109943417-109943418	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs371015468	chr6:109943425-109943426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112586124	chr6:109943430-109943431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570843217	chr6:109943453-109943454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565566695	chr6:109943516-109943517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533269231	chr6:109943549-109943550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556378585	chr6:109943553-109943554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs67018523	chr6:109943634-109943635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12208435	chr6:109943638-109943639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191504956	chr6:109943644-109943645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs57630072	chr6:109943701-109943702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185330567	chr6:109943703-109943704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141926056	chr6:109943728-109943729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10690530	chr6:109943729-109943730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34196062	chr6:109943730-109943731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111218586	chr6:109943731-109943732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111301244	chr6:109943776-109943777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190226541	chr6:109943789-109943790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9400307	chr6:109943793-109943794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs182225539	chr6:109943805-109943806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117856737	chr6:109943813-109943814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9374110	chr6:109943857-109943858	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs187295668	chr6:109943859-109943860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370934151	chr6:109943875-109943876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563228457	chr6:109944002-109944003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79275373	chr6:109944120-109944121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189336252	chr6:109944137-109944138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141957611	chr6:109944164-109944165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180951871	chr6:109944186-109944187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs527922542	chr6:109944266-109944267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534007126	chr6:109944308-109944309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs139101622	chr6:109944309-109944310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185129332	chr6:109944314-109944315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200469032	chr6:109944316-109944317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548086856	chr6:109944317-109944318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571207908	chr6:109944367-109944368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:109923600-109952600	Weak transcription	Right Ventricle	heart
2	chr6:109928000-109966400	Weak transcription	Pancreas	Pancrea
3	chr6:109933000-109948800	Weak transcription	Thymus	Thymus
4	chr6:109933000-109962800	Weak transcription	Left Ventricle	heart
5	chr6:109933000-109966400	Weak transcription	Brain Germinal Matrix	brain
6	chr6:109933000-109985200	Weak transcription	Psoas Muscle	Psoas
7	chr6:109933800-109951400	Weak transcription	Primary B cells from cord blood	blood
8	chr6:109944000-109945000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:109944400-109944800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:109944400-109945000	Enhancers	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links