Variant report

Variant	esv3339011
Chromosome Location	chr6:45255974-45257022
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9369554	chr6:45256041-45256042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72858585	chr6:45256050-45256051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115588121	chr6:45256078-45256079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6940983	chr6:45256155-45256156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs12153922	chr6:45256159-45256160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562582215	chr6:45256179-45256180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529783188	chr6:45256184-45256185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201176919	chr6:45256205-45256206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576035567	chr6:45256226-45256227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548752052	chr6:45256229-45256230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538226632	chr6:45256258-45256259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141680515	chr6:45256268-45256269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547612228	chr6:45256284-45256285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73735344	chr6:45256286-45256287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202212730	chr6:45256288-45256289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200478221	chr6:45256290-45256291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201132365	chr6:45256292-45256293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3923354	chr6:45256293-45256294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570697526	chr6:45256300-45256301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565640144	chr6:45256301-45256302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9369555	chr6:45256302-45256303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558838107	chr6:45256304-45256305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9369556	chr6:45256320-45256321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186095781	chr6:45256325-45256326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190863799	chr6:45256332-45256333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs60796344	chr6:45256334-45256335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28624417	chr6:45256336-45256337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375212664	chr6:45256349-45256350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59183264	chr6:45256350-45256351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376454901	chr6:45256366-45256367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183209908	chr6:45256395-45256396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570480452	chr6:45256430-45256431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13220399	chr6:45256480-45256481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs3923353	chr6:45256482-45256483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs13220405	chr6:45256494-45256495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116208057	chr6:45256499-45256500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188140668	chr6:45256584-45256585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568527590	chr6:45256597-45256598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564640718	chr6:45256697-45256698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535617267	chr6:45256739-45256740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554802789	chr6:45256763-45256764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77695163	chr6:45256766-45256767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540497173	chr6:45256774-45256775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373385073	chr6:45256805-45256806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148872729	chr6:45256808-45256809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544177080	chr6:45256823-45256824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72858592	chr6:45256829-45256830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529790616	chr6:45256890-45256891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs528697881	chr6:45256892-45256893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116691750	chr6:45256932-45256933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45249800-45278200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:45254800-45258800	Weak transcription	Dnd41	blood

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