Variant report

Variant	esv3388939
Chromosome Location	chr6:13739323-13740321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13625404..13627006-chr6:13739192..13742116,2	MCF-7	breast:
2	chr6:13738311..13740748-chr6:13742371..13744717,2	K562	blood:
3	chr6:13733063..13736009-chr6:13738109..13740804,2	MCF-7	breast:
4	chr6:13736668..13740748-chr6:13741569..13743871,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553656058	chr6:13739334-13739335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115598062	chr6:13739365-13739366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571898494	chr6:13739407-13739408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186324633	chr6:13739408-13739409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554222892	chr6:13739421-13739422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191626563	chr6:13739434-13739435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538749757	chr6:13739441-13739442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543371839	chr6:13739462-13739463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10456703	chr6:13739490-13739491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532796979	chr6:13739515-13739516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546191439	chr6:13739526-13739527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560131911	chr6:13739561-13739562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372550611	chr6:13739594-13739595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112766037	chr6:13739597-13739598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549366860	chr6:13739621-13739622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548832019	chr6:13739623-13739624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568529430	chr6:13739624-13739625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs71552754	chr6:13739629-13739630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151021813	chr6:13739642-13739643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140273161	chr6:13739644-13739645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs68020466	chr6:13739645-13739646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371172490	chr6:13739649-13739650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368728054	chr6:13739657-13739658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139226621	chr6:13739675-13739676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55986421	chr6:13739685-13739686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs56997663	chr6:13739686-13739687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575721776	chr6:13739691-13739692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10456704	chr6:13739692-13739693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200487802	chr6:13739694-13739695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540932416	chr6:13739700-13739701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376533170	chr6:13739701-13739702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10456706	chr6:13739714-13739715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10456707	chr6:13739721-13739722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531046339	chr6:13739725-13739726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563320410	chr6:13739728-13739729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550905462	chr6:13739730-13739731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570766072	chr6:13739751-13739752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534557104	chr6:13739787-13739788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115654029	chr6:13739823-13739824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183828037	chr6:13739918-13739919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185859367	chr6:13739940-13739941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146856482	chr6:13739959-13739960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138712746	chr6:13739987-13739988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142765524	chr6:13740072-13740073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551539651	chr6:13740088-13740089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554359763	chr6:13740092-13740093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191003946	chr6:13740093-13740094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183182651	chr6:13740130-13740131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556878868	chr6:13740182-13740183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79137163	chr6:13740183-13740184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
small cell lung cancer	20016488	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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
abnormal development	18461090	CNVD
Cancer	16790693	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13739000-13743200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links