Variant report

Variant	esv3448966
Chromosome Location	chr6:26956873-26960071
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201586386	chr6:26956942-26956943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs59152492	chr6:26956952-26956953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576882166	chr6:26957073-26957074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566137731	chr6:26957216-26957217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539569508	chr6:26957224-26957225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556488766	chr6:26957276-26957277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs193130951	chr6:26957289-26957290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185284278	chr6:26957389-26957390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554705244	chr6:26957398-26957399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148720851	chr6:26957431-26957432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111355542	chr6:26957435-26957436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3999242	chr6:26957445-26957446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576223369	chr6:26957510-26957511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561072784	chr6:26957525-26957526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191649411	chr6:26957544-26957545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3999243	chr6:26957586-26957587	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540388244	chr6:26957587-26957588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560392533	chr6:26957610-26957611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532217469	chr6:26957643-26957644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545928054	chr6:26957670-26957671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562483458	chr6:26957725-26957726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188180583	chr6:26957773-26957774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180930806	chr6:26957792-26957793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3999248	chr6:26957805-26957806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs527984155	chr6:26957806-26957807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184456991	chr6:26957817-26957818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs3999250	chr6:26957915-26957916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570730040	chr6:26957960-26957961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190623279	chr6:26957965-26957966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182291835	chr6:26957968-26957969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570027601	chr6:26957989-26957990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535518417	chr6:26958102-26958103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3999253	chr6:26958120-26958121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577481509	chr6:26958169-26958170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555738944	chr6:26958172-26958173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9366676	chr6:26958180-26958181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540554222	chr6:26958187-26958188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559087363	chr6:26958308-26958309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553973256	chr6:26958314-26958315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577141437	chr6:26958315-26958316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574431685	chr6:26958348-26958349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545913305	chr6:26958384-26958385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113534039	chr6:26958422-26958423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541936019	chr6:26958481-26958482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9467936	chr6:26958528-26958529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs190503934	chr6:26958667-26958668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561748840	chr6:26958761-26958762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12663161	chr6:26958784-26958785	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs147609970	chr6:26958790-26958791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181089497	chr6:26958791-26958792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Retinoblastoma	16790693	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
T-cell lymphomas	19863542	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Williams-beuren syndrome	16971481	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21509527	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26953600-26966000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links