Variant report

Variant	nsv1031462
Chromosome Location	chr6:163042576-163114449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:163103043..163104996-chr6:163109382..163111025,2	K562	blood:
2	chr6:163080104..163081787-chr6:163082227..163083951,2	K562	blood:
3	chr6:163111769..163114753-chr6:163116374..163118174,2	K562	blood:
4	chr6:163080104..163081787-chr6:163082227..163083951,2	K562	blood:
5	chr6:163103043..163104996-chr6:163109382..163111025,2	K562	blood:
6	chr6:163077595..163080176-chr6:163085064..163087575,2	K562	blood:
7	chr6:163100762..163102270-chr6:163108804..163111519,2	K562	blood:
8	chr6:163100762..163102270-chr6:163108804..163111519,2	K562	blood:
9	chr6:163077595..163080176-chr6:163085064..163087575,2	K562	blood:

No data

Extended variants
information (count: 2368 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:2368 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6455842	chr6:163042576-163042577	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2846523	chr6:163042650-163042651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs548213247	chr6:163042680-163042681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186205785	chr6:163042686-163042687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2803040	chr6:163042703-163042704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs62429076	chr6:163042766-163042767	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571034349	chr6:163042767-163042768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189063738	chr6:163042777-163042778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549924691	chr6:163042781-163042782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373226879	chr6:163042845-163042846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569634642	chr6:163042864-163042865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182057770	chr6:163042877-163042878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555367155	chr6:163042917-163042918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572246263	chr6:163042982-163042983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62429089	chr6:163043003-163043004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534955992	chr6:163043033-163043034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557625035	chr6:163043034-163043035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201262518	chr6:163043038-163043039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552277965	chr6:163043064-163043065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577439288	chr6:163043071-163043072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545861034	chr6:163043132-163043133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187434318	chr6:163043143-163043144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72007741	chr6:163043153-163043154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs59291013	chr6:163043154-163043155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538066598	chr6:163043174-163043175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs576158115	chr6:163043177-163043178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541820238	chr6:163043195-163043196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141197201	chr6:163043204-163043205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112800481	chr6:163043218-163043219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527939973	chr6:163043238-163043239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145073888	chr6:163043244-163043245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564494441	chr6:163043285-163043286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146158439	chr6:163043316-163043317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140168700	chr6:163043322-163043323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373944328	chr6:163043326-163043327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs2803039	chr6:163043327-163043328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs59684475	chr6:163043331-163043332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113056939	chr6:163043334-163043335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs66761158	chr6:163043335-163043336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535589827	chr6:163043336-163043337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200875873	chr6:163043340-163043341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548688937	chr6:163043344-163043345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs71567663	chr6:163043345-163043346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
44	rs534588270	chr6:163043348-163043349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558051255	chr6:163043360-163043361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571244562	chr6:163043386-163043387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs117294158	chr6:163043390-163043391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556784776	chr6:163043405-163043406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149098047	chr6:163043406-163043407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542318713	chr6:163043407-163043408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Parkinson disease	0	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163025400-163043400	Weak transcription	Psoas Muscle	Psoas
2	chr6:163040000-163047000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:163042000-163042600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:163042000-163042600	Enhancers	Fetal Heart	heart
5	chr6:163042200-163042600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr6:163042200-163042600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:163042200-163042600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:163042200-163042600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:163042200-163042600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:163042200-163042600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr6:163042200-163042600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:163042200-163042600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:163042200-163042600	Enhancers	Left Ventricle	heart
14	chr6:163042200-163042800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:163042200-163042800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr6:163042400-163042600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:163042400-163042800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr6:163042400-163043000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:163042400-163047000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:163042600-163043400	Weak transcription	Left Ventricle	heart
21	chr6:163042600-163043400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:163042600-163043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:163042600-163043800	Weak transcription	Fetal Heart	heart
24	chr6:163042600-163046000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:163042600-163046000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:163042600-163046000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:163042600-163046200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:163042600-163046200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:163042800-163043200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:163042800-163046000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:163042800-163046000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:163043000-163043600	Enhancers	Esophagus	oesophagus
33	chr6:163043200-163043600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr6:163043400-163043600	Enhancers	Fetal Brain Male	brain
35	chr6:163043400-163043600	Enhancers	Right Ventricle	heart
36	chr6:163043400-163044000	Enhancers	Left Ventricle	heart
37	chr6:163043400-163044000	Enhancers	Psoas Muscle	Psoas
38	chr6:163043400-163044000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr6:163043600-163047000	Weak transcription	Right Ventricle	heart
40	chr6:163043800-163044000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:163043800-163044000	Enhancers	Fetal Heart	heart
42	chr6:163044000-163048800	Weak transcription	Psoas Muscle	Psoas
43	chr6:163044000-163056800	Weak transcription	Left Ventricle	heart
44	chr6:163045800-163047400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr6:163046000-163046200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:163046000-163046400	ZNF genes & repeats	Aorta	Aorta
47	chr6:163046000-163046600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr6:163046000-163046600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr6:163046000-163046600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:163046000-163046800	Enhancers	HUES6 Cell Line	embryonic stem cell

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