Variant report

Variant	esv20874
Chromosome Location	chr6:28630476-28633178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28633014..28636494-chr6:28636598..28640910,4	K562	blood:
2	chr6:28632209..28634978-chr6:28647206..28648913,2	MCF-7	breast:
3	chr6:28631525..28633126-chr6:28674832..28677325,2	K562	blood:
4	chr6:28626906..28629366-chr6:28632786..28636126,4	K562	blood:
5	chr6:28624820..28630084-chr6:28630901..28635993,6	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35531506	chr6:28630477-28630478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559259605	chr6:28630486-28630487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182867239	chr6:28630606-28630607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199887579	chr6:28630643-28630644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114406632	chr6:28630647-28630648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186136789	chr6:28630657-28630658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191288580	chr6:28630672-28630673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183096251	chr6:28630683-28630684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560710881	chr6:28630686-28630687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13194504	chr6:28630691-28630692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs576398068	chr6:28630694-28630695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114978306	chr6:28630708-28630709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73407157	chr6:28630709-28630710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562174369	chr6:28630738-28630739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531499732	chr6:28630748-28630749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7767008	chr6:28630793-28630794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs531220412	chr6:28630811-28630812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561690772	chr6:28630870-28630871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527484589	chr6:28630895-28630896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114495097	chr6:28631011-28631012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560582417	chr6:28631032-28631033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532686603	chr6:28631112-28631113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373144746	chr6:28631124-28631125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569317496	chr6:28631160-28631161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386698335	chr6:28631172-28631173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115159121	chr6:28631173-28631174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532121585	chr6:28631180-28631181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568536281	chr6:28631204-28631205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187777860	chr6:28631221-28631222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554107755	chr6:28631317-28631318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576510529	chr6:28631331-28631332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547079584	chr6:28631396-28631397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12524495	chr6:28631444-28631445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370538001	chr6:28631449-28631450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200196061	chr6:28631462-28631463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77012662	chr6:28631505-28631506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144699552	chr6:28631508-28631509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541711620	chr6:28631537-28631538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562036278	chr6:28631578-28631579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572112264	chr6:28631587-28631588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148530412	chr6:28631588-28631589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115508833	chr6:28631628-28631629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145479217	chr6:28631660-28631661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs16894184	chr6:28631731-28631732	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs562827684	chr6:28631747-28631748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183198251	chr6:28631878-28631879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147712388	chr6:28631978-28631979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142552516	chr6:28632009-28632010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144888037	chr6:28632051-28632052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111602435	chr6:28632065-28632066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	19571809	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28627000-28632600	Weak transcription	K562	blood
2	chr6:28627600-28641400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:28632600-28633200	Enhancers	K562	blood

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