Variant report

Variant	esv2333109
Chromosome Location	chr6:5927555-5927956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5921958..5924499-chr6:5927250..5929077,2	K562	blood:
2	chr6:5926393..5928298-chr6:5979263..5980997,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546676255	chr6:5927555-5927556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13197916	chr6:5927559-5927560	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs371633132	chr6:5927591-5927592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535841834	chr6:5927626-5927627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550742270	chr6:5927676-5927677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569495436	chr6:5927687-5927688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539747808	chr6:5927690-5927691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558304677	chr6:5927692-5927693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573492933	chr6:5927694-5927695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371894174	chr6:5927701-5927702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573667021	chr6:5927720-5927721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534421306	chr6:5927724-5927725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553099653	chr6:5927728-5927729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376285599	chr6:5927732-5927733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552892881	chr6:5927736-5927737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200412996	chr6:5927737-5927738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572951297	chr6:5927740-5927741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201619768	chr6:5927741-5927742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564687189	chr6:5927744-5927745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13198173	chr6:5927749-5927750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4053240	chr6:5927752-5927753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376911865	chr6:5927753-5927754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs5008934	chr6:5927756-5927757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368480411	chr6:5927764-5927765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13209705	chr6:5927767-5927768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190680598	chr6:5927768-5927769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13198181	chr6:5927770-5927771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145749715	chr6:5927772-5927773	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182311292	chr6:5927776-5927777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541767943	chr6:5927780-5927781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13198190	chr6:5927797-5927798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199985902	chr6:5927804-5927805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543430060	chr6:5927805-5927806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369324139	chr6:5927808-5927809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs59401184	chr6:5927809-5927810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs70975937	chr6:5927812-5927813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191695414	chr6:5927817-5927818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs60054438	chr6:5927821-5927822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369983007	chr6:5927839-5927840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575465096	chr6:5927857-5927858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567604935	chr6:5927860-5927861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538933148	chr6:5927868-5927869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529371645	chr6:5927871-5927872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141681891	chr6:5927903-5927904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564071917	chr6:5927925-5927926	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
dysmorphism	22105932	CNVD
psychomotor delay	22105932	CNVD
Ovarian cancer	19193619	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Melanoma	20688739	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5927400-5928400	Enhancers	NHDF-Ad	bronchial

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