Variant report

Variant	nsv886918
Chromosome Location	chr6:163544705-163556198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163554133..163556109-chr6:163556164..163558710,2	K562	blood:
2	chr6:163554133..163556109-chr6:163556164..163558710,2	K562	blood:
3	chr6:163539658..163541296-chr6:163542884..163545685,2	K562	blood:

Extended variants
information (count: 436 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6908157	chr6:163544705-163544706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551501469	chr6:163544706-163544707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546975134	chr6:163544717-163544718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148784199	chr6:163544719-163544720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73027179	chr6:163544734-163544735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73593774	chr6:163544751-163544752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186109439	chr6:163544779-163544780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111431988	chr6:163544804-163544805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538477079	chr6:163544836-163544837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150824446	chr6:163544848-163544849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367939987	chr6:163544858-163544859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568196189	chr6:163544870-163544871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542297746	chr6:163544957-163544958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569758047	chr6:163544998-163544999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192317361	chr6:163544999-163545000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373163560	chr6:163545050-163545051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140012376	chr6:163545086-163545087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76596564	chr6:163545087-163545088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545715011	chr6:163545108-163545109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556072724	chr6:163545117-163545118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184093036	chr6:163545195-163545196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541667695	chr6:163545229-163545230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74719808	chr6:163545238-163545239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9347728	chr6:163545312-163545313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs540331592	chr6:163545320-163545321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549180688	chr6:163545366-163545367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139854089	chr6:163545387-163545388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532426600	chr6:163545396-163545397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79530017	chr6:163545513-163545514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553103386	chr6:163545576-163545577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563217740	chr6:163545600-163545601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532041995	chr6:163545643-163545644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10945872	chr6:163545674-163545675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs568522193	chr6:163545676-163545677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147684666	chr6:163545725-163545726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547149596	chr6:163545732-163545733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188629355	chr6:163545743-163545744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs539086651	chr6:163545774-163545775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs116612188	chr6:163545781-163545782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs578647	chr6:163545782-163545783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535322673	chr6:163545796-163545797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555550608	chr6:163545803-163545804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572116445	chr6:163545804-163545805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541195074	chr6:163545809-163545810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560419581	chr6:163545849-163545850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143772979	chr6:163545853-163545854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577409567	chr6:163545855-163545856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546268284	chr6:163545943-163545944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192973905	chr6:163545947-163545948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557070797	chr6:163545954-163545955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163542400-163545600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:163543600-163545200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:163543600-163545200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr6:163543800-163544800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:163544000-163544800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:163544000-163545000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:163544600-163544800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:163544600-163545000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:163544600-163545000	Enhancers	Fetal Heart	heart
10	chr6:163544800-163545200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:163545000-163547000	Weak transcription	Fetal Heart	heart
12	chr6:163545000-163549200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:163545000-163549600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:163545200-163549200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:163545200-163549600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr6:163545600-163545800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:163545800-163547800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:163547000-163550000	Enhancers	Fetal Heart	heart
19	chr6:163547200-163548000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr6:163547200-163548400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:163547800-163548000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:163548000-163549600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:163548400-163548600	Enhancers	Brain Substantia Nigra	brain
24	chr6:163548600-163549200	Weak transcription	Brain Substantia Nigra	brain
25	chr6:163549200-163549800	Enhancers	Brain Anterior Caudate	brain
26	chr6:163549200-163549800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr6:163549200-163549800	Enhancers	Brain Substantia Nigra	brain
28	chr6:163549200-163550000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr6:163549200-163550000	Enhancers	Brain Hippocampus Middle	brain
30	chr6:163549200-163550800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr6:163549600-163549800	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr6:163549600-163549800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr6:163549600-163550600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:163549800-163550200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:163549800-163550200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr6:163549800-163554000	Weak transcription	Brain Substantia Nigra	brain
37	chr6:163549800-163556800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:163550000-163551200	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:163550000-163553400	Weak transcription	Fetal Heart	heart
40	chr6:163550200-163550800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr6:163550200-163551200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr6:163550200-163561400	Weak transcription	Right Ventricle	heart
43	chr6:163553400-163554000	Enhancers	Fetal Heart	heart
44	chr6:163554000-163554400	Enhancers	Brain Substantia Nigra	brain
45	chr6:163554000-163555000	Enhancers	Brain Cingulate Gyrus	brain
46	chr6:163554400-163554800	Active TSS	Brain Anterior Caudate	brain
47	chr6:163554400-163554800	Active TSS	Brain Hippocampus Middle	brain
48	chr6:163554400-163554800	Active TSS	Brain Substantia Nigra	brain
49	chr6:163554800-163556800	Weak transcription	Brain Anterior Caudate	brain
50	chr6:163554800-163556800	Weak transcription	Brain Substantia Nigra	brain

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