Variant report

Variant	nsv521563
Chromosome Location	chr6:163248589-163305426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163258403..163260425-chr6:163266356..163268701,2	K562	blood:
2	chr6:163258403..163260425-chr6:163266356..163268701,2	K562	blood:
3	chr6:162863816..162864618-chr6:163271757..163272511,2	MCF-7	breast:
4	chr4:72393798..72394589-chr6:163273105..163273631,2	MCF-7	breast:

Extended variants
information (count: 1613 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1613 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6917499	chr6:163248589-163248590	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535848392	chr6:163248696-163248697	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs36069443	chr6:163248701-163248702	Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs117600976	chr6:163248712-163248713	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs538516512	chr6:163248713-163248714	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs558431669	chr6:163248729-163248730	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs575056117	chr6:163248749-163248750	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs542229467	chr6:163248838-163248839	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs544043281	chr6:163248853-163248854	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs185865618	chr6:163248890-163248891	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs574108853	chr6:163248903-163248904	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs560498074	chr6:163248905-163248906	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs542642583	chr6:163248906-163248907	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs559667616	chr6:163248940-163248941	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528520955	chr6:163248983-163248984	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs148779953	chr6:163248998-163248999	Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs565616062	chr6:163249019-163249020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142393420	chr6:163249026-163249027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73017687	chr6:163249128-163249129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs151293432	chr6:163249158-163249159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140621354	chr6:163249164-163249165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76744493	chr6:163249190-163249191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74970764	chr6:163249214-163249215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566084379	chr6:163249262-163249263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564615600	chr6:163249312-163249313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11965314	chr6:163249315-163249316	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150472668	chr6:163249349-163249350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568839889	chr6:163249360-163249361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs182161435	chr6:163249367-163249368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11963648	chr6:163249395-163249396	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs554787610	chr6:163249416-163249417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574553539	chr6:163249439-163249440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs57177452	chr6:163249497-163249498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553522430	chr6:163249513-163249514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370102790	chr6:163249530-163249531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs187247425	chr6:163249544-163249545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs573261344	chr6:163249566-163249567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545449805	chr6:163249617-163249618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147667634	chr6:163249618-163249619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529581222	chr6:163249643-163249644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9347691	chr6:163249645-163249646	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190869126	chr6:163249678-163249679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114704660	chr6:163249704-163249705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182738559	chr6:163249753-163249754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140045182	chr6:163249785-163249786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377699383	chr6:163249806-163249807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546641010	chr6:163249816-163249817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566264160	chr6:163249831-163249832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561683794	chr6:163249881-163249882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560075910	chr6:163249937-163249938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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

Chromatin state (count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163248200-163248800	Active TSS	Brain Anterior Caudate	brain
2	chr6:163248200-163248800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr6:163248200-163249000	Active TSS	Brain Hippocampus Middle	brain
4	chr6:163248200-163249000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr6:163248400-163248600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:163248400-163248600	Active TSS	Brain Cingulate Gyrus	brain
7	chr6:163248400-163248600	Active TSS	Brain Substantia Nigra	brain
8	chr6:163248400-163248800	Active TSS	Brain Angular Gyrus	brain
9	chr6:163248400-163248800	Active TSS	NHDF-Ad	bronchial
10	chr6:163248400-163249000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr6:163248600-163248800	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr6:163248600-163249000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:163248600-163249000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:163248600-163249000	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr6:163248800-163249000	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr6:163248800-163249000	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr6:163248800-163249000	Active TSS	Brain Cingulate Gyrus	brain
18	chr6:163249000-163249600	Enhancers	Brain Angular Gyrus	brain
19	chr6:163249000-163249600	Enhancers	Brain Cingulate Gyrus	brain
20	chr6:163249000-163249800	Enhancers	Brain Hippocampus Middle	brain
21	chr6:163249000-163250200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr6:163250400-163250600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:163251800-163252400	Weak transcription	Brain Anterior Caudate	brain
24	chr6:163252600-163252800	ZNF genes & repeats	Brain Anterior Caudate	brain
25	chr6:163265200-163265600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr6:163265600-163270200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr6:163267000-163267400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:163267000-163268000	Enhancers	Esophagus	oesophagus
29	chr6:163267000-163268200	ZNF genes & repeats	Pancreas	Pancrea
30	chr6:163267200-163267400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr6:163267400-163275800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:163267600-163267800	Enhancers	Fetal Heart	heart
33	chr6:163268000-163269000	Weak transcription	Fetal Heart	heart
34	chr6:163268200-163273200	Weak transcription	Pancreas	Pancrea
35	chr6:163268600-163268800	Enhancers	Brain Germinal Matrix	brain
36	chr6:163268800-163269800	Weak transcription	Brain Germinal Matrix	brain
37	chr6:163269000-163270000	Enhancers	Brain Cingulate Gyrus	brain
38	chr6:163269000-163270600	Enhancers	Fetal Heart	heart
39	chr6:163269200-163269800	Enhancers	Brain Anterior Caudate	brain
40	chr6:163269200-163270000	Enhancers	Brain Substantia Nigra	brain
41	chr6:163269400-163269600	Enhancers	Brain Hippocampus Middle	brain
42	chr6:163269400-163269800	Enhancers	Brain Angular Gyrus	brain
43	chr6:163269600-163269800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr6:163269600-163270600	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr6:163269800-163270000	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr6:163269800-163270200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr6:163269800-163270600	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr6:163269800-163270600	Enhancers	Brain Germinal Matrix	brain
49	chr6:163270000-163270200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr6:163270000-163270200	Active TSS	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links