Variant report

Variant	esv3408957
Chromosome Location	chr6:88460283-88462481
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	chr6:88453343..88455880-chr6:88462442..88464848,2	K562	blood:
2	chr6:88456047..88458773-chr6:88460531..88463354,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568499784	chr6:88460299-88460300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555197312	chr6:88460336-88460337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565252680	chr6:88460417-88460418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532388573	chr6:88460493-88460494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567832525	chr6:88460630-88460631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541458304	chr6:88460750-88460751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71572778	chr6:88460785-88460786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62419490	chr6:88460868-88460869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200096339	chr6:88460887-88460888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530332997	chr6:88460918-88460919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373298934	chr6:88460946-88460947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548335600	chr6:88461006-88461007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7383418	chr6:88461051-88461052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368500498	chr6:88461057-88461058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377290347	chr6:88461086-88461087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371731062	chr6:88461104-88461105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4707396	chr6:88461128-88461129	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs183811295	chr6:88461145-88461146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376501134	chr6:88461168-88461169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570560253	chr6:88461267-88461268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534313248	chr6:88461276-88461277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374403570	chr6:88461356-88461357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6454643	chr6:88461406-88461407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372484179	chr6:88461437-88461438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553050521	chr6:88461463-88461464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376850237	chr6:88461471-88461472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568312701	chr6:88461479-88461480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4339424	chr6:88461500-88461501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375861583	chr6:88461536-88461537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535755572	chr6:88461537-88461538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12174652	chr6:88461545-88461546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373199496	chr6:88461557-88461558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575368622	chr6:88461573-88461574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539656359	chr6:88461586-88461587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558776451	chr6:88461608-88461609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577317289	chr6:88461613-88461614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4339425	chr6:88461617-88461618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559332450	chr6:88461628-88461629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554640362	chr6:88461637-88461638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35918629	chr6:88461638-88461639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4339426	chr6:88461674-88461675	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542138842	chr6:88461684-88461685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4580830	chr6:88461685-88461686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375691715	chr6:88461694-88461695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552777682	chr6:88461717-88461718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564021717	chr6:88461752-88461753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9450794	chr6:88461775-88461776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs546576820	chr6:88461787-88461788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371466343	chr6:88461788-88461789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9450795	chr6:88461821-88461822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelodysplastic syndrome	18508791	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88456400-88465400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:88457800-88482400	Weak transcription	Placenta	Placenta
3	chr6:88458200-88465600	Weak transcription	HepG2	liver
4	chr6:88458400-88464000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr6:88458600-88462400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr6:88461800-88466000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:88462000-88462200	Enhancers	Spleen	Spleen
8	chr6:88462400-88462800	Enhancers	Monocytes-CD14+_RO01746	blood

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