Variant report

Variant	esv3399133
Chromosome Location	chr6:26866973-26870371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576002798	chr6:26866975-26866976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563847876	chr6:26866982-26866983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377204540	chr6:26866996-26866997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62400843	chr6:26867025-26867026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192512511	chr6:26867031-26867032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12180920	chr6:26867071-26867072	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537531682	chr6:26867117-26867118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147844171	chr6:26867118-26867119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574216108	chr6:26867129-26867130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533512453	chr6:26867130-26867131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553362477	chr6:26867158-26867159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112037063	chr6:26867159-26867160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112489591	chr6:26867183-26867184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577418937	chr6:26867187-26867188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546524783	chr6:26867203-26867204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562934007	chr6:26867227-26867228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576601684	chr6:26867240-26867241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542460898	chr6:26867303-26867304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562127982	chr6:26867309-26867310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150347822	chr6:26867366-26867367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547766226	chr6:26867377-26867378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553157641	chr6:26867378-26867379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532295042	chr6:26867409-26867410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574766365	chr6:26867431-26867432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369782884	chr6:26867435-26867436	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552479296	chr6:26867453-26867454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144973795	chr6:26867473-26867474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554973145	chr6:26867499-26867500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537623345	chr6:26867500-26867501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188856954	chr6:26867503-26867504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547999225	chr6:26867528-26867529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567776790	chr6:26867543-26867544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576507903	chr6:26867544-26867545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372856974	chr6:26867562-26867563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576815707	chr6:26867573-26867574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377238434	chr6:26867592-26867593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370087968	chr6:26867609-26867610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576677682	chr6:26867615-26867616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113586036	chr6:26867632-26867633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542399453	chr6:26867634-26867635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10080732	chr6:26867710-26867711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10080478	chr6:26867711-26867712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62400844	chr6:26867722-26867723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200593824	chr6:26867723-26867724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200217479	chr6:26867781-26867782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201393601	chr6:26867789-26867790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533397753	chr6:26867793-26867794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200163507	chr6:26867799-26867800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6926944	chr6:26867850-26867851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562772977	chr6:26867866-26867867	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
Lung cancer	21569311	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26844400-26872000	Weak transcription	Fetal Intestine Small	intestine
2	chr6:26865800-26867600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr6:26866400-26867000	Enhancers	Fetal Muscle Leg	muscle
4	chr6:26866600-26867200	Enhancers	Fetal Muscle Trunk	muscle
5	chr6:26866600-26867400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:26866800-26867000	Enhancers	Skeletal Muscle Male	skeletal muscle

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