Variant report

Variant	esv3374244
Chromosome Location	chr6:24170968-24171803
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189628767	chr6:24170974-24170975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs16888748	chr6:24170975-24170976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs535659924	chr6:24170992-24170993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549192738	chr6:24171063-24171064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565812200	chr6:24171066-24171067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534962212	chr6:24171194-24171195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs369614663	chr6:24171201-24171202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574517705	chr6:24171228-24171229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557860630	chr6:24171243-24171244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577628499	chr6:24171267-24171268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537102427	chr6:24171285-24171286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557056312	chr6:24171311-24171312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191634029	chr6:24171316-24171317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542836994	chr6:24171327-24171328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111701153	chr6:24171337-24171338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184625547	chr6:24171359-24171360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562153450	chr6:24171371-24171372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9393535	chr6:24171379-24171380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs34492694	chr6:24171398-24171399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113155890	chr6:24171446-24171447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188944587	chr6:24171499-24171500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111801284	chr6:24171510-24171511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555805488	chr6:24171521-24171522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77839144	chr6:24171526-24171527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563355739	chr6:24171565-24171566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74945887	chr6:24171613-24171614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548900133	chr6:24171619-24171620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565909936	chr6:24171635-24171636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528337958	chr6:24171638-24171639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551658551	chr6:24171690-24171691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144734481	chr6:24171697-24171698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138259941	chr6:24171720-24171721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556972433	chr6:24171751-24171752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567400531	chr6:24171766-24171767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369745158	chr6:24171771-24171772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560162395	chr6:24171785-24171786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143856226	chr6:24171789-24171790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147252644	chr6:24171802-24171803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17133270	CNVD
Autism	22495311	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	16790693	CNVD
Breast cancer	22032731	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	16790693	CNVD
Oral squamous cell carcinoma	17134496	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
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cancer	21183584	CNVD
Myelofibrosis	22110671	CNVD
Williams-beuren syndrome	16971481	CNVD
Uveal melanoma	20484589	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24153800-24200800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:24163600-24177600	Weak transcription	Fetal Kidney	kidney
3	chr6:24164400-24183800	Weak transcription	Pancreas	Pancrea
4	chr6:24170000-24171600	Weak transcription	HepG2	liver
5	chr6:24171600-24173200	Strong transcription	HepG2	liver
6	chr6:24171600-24182800	Weak transcription	Fetal Intestine Small	intestine

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