Variant report

Variant	nsv886911
Chromosome Location	chr6:162992704-163094923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163080104..163081787-chr6:163082227..163083951,2	K562	blood:
2	chr6:163077595..163080176-chr6:163085064..163087575,2	K562	blood:
3	chr6:163080104..163081787-chr6:163082227..163083951,2	K562	blood:
4	chr6:163002877..163005708-chr6:163021910..163024946,3	K562	blood:
5	chr6:163002877..163005708-chr6:163021910..163024946,3	K562	blood:
6	chr6:163077595..163080176-chr6:163085064..163087575,2	K562	blood:

Extended variants
information (count: 3825 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:3825 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4709641	chr6:162992704-162992705	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs80062183	chr6:162992751-162992752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142064369	chr6:162992799-162992800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370382772	chr6:162992800-162992801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189634587	chr6:162992908-162992909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180823074	chr6:162992910-162992911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9365467	chr6:162992923-162992924	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs569097256	chr6:162992989-162992990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531521730	chr6:162993011-162993012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184282675	chr6:162993012-162993013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369540468	chr6:162993025-162993026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs371231297	chr6:162993028-162993029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs151132418	chr6:162993039-162993040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544160003	chr6:162993068-162993069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556110504	chr6:162993109-162993110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139101628	chr6:162993148-162993149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566889020	chr6:162993155-162993156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9356050	chr6:162993157-162993158	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs558704698	chr6:162993184-162993185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541849889	chr6:162993195-162993196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11966654	chr6:162993259-162993260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538548839	chr6:162993263-162993264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188684653	chr6:162993358-162993359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567001502	chr6:162993364-162993365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78279188	chr6:162993365-162993366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34344906	chr6:162993378-162993379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs576879530	chr6:162993472-162993473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545753299	chr6:162993503-162993504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10080795	chr6:162993511-162993512	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs9295195	chr6:162993515-162993516	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548068356	chr6:162993518-162993519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145103130	chr6:162993529-162993530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564312903	chr6:162993548-162993549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181158909	chr6:162993582-162993583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186231526	chr6:162993588-162993589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566930978	chr6:162993616-162993617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10080731	chr6:162993627-162993628	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs6906849	chr6:162993672-162993673	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10080853	chr6:162993680-162993681	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538289471	chr6:162993686-162993687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6927670	chr6:162993816-162993817	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575244758	chr6:162993825-162993826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534355981	chr6:162993849-162993850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554091806	chr6:162993851-162993852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576823909	chr6:162993859-162993860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527875622	chr6:162993904-162993905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200994377	chr6:162993916-162993917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200359229	chr6:162993917-162993918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34122884	chr6:162993961-162993962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9458609	chr6:162994057-162994058	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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
Schizophrenia	21346763	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162989600-162993600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:162989800-163000200	Weak transcription	Pancreas	Pancrea
3	chr6:162990200-162994400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:162990400-162993200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:162990400-162995000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:162990400-163000200	Weak transcription	Ovary	ovary
7	chr6:162990400-163001200	Weak transcription	Left Ventricle	heart
8	chr6:162990400-163001800	Weak transcription	Aorta	Aorta
9	chr6:162990600-162994200	Weak transcription	Right Ventricle	heart
10	chr6:162992600-162993200	Enhancers	Esophagus	oesophagus
11	chr6:162992600-162993600	Enhancers	Colon Smooth Muscle	Colon
12	chr6:162993000-162993600	Enhancers	Fetal Kidney	kidney
13	chr6:162993600-162993800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:162993800-162994600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:162994200-162994400	Enhancers	Right Ventricle	heart
16	chr6:162994400-162994600	Enhancers	Brain Cingulate Gyrus	brain
17	chr6:162995000-162995200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:162996600-162997400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:162996800-162997600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:163000200-163001200	Enhancers	Ovary	ovary
21	chr6:163001200-163001600	Enhancers	Left Ventricle	heart
22	chr6:163001200-163004000	Weak transcription	Ovary	ovary
23	chr6:163001600-163001800	Weak transcription	Left Ventricle	heart
24	chr6:163001600-163002000	Enhancers	Psoas Muscle	Psoas
25	chr6:163001800-163002000	Enhancers	Left Ventricle	heart
26	chr6:163001800-163002200	Enhancers	Aorta	Aorta
27	chr6:163002000-163002200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:163002000-163002200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:163002000-163002200	Enhancers	Fetal Heart	heart
30	chr6:163002000-163014000	Weak transcription	Left Ventricle	heart
31	chr6:163002200-163003200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:163002400-163002800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:163002800-163003800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:163002800-163003800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:163002800-163004200	Enhancers	Brain Germinal Matrix	brain
36	chr6:163003200-163003600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:163003200-163003600	Enhancers	Fetal Lung	lung
38	chr6:163003200-163004000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:163003200-163004600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:163003400-163004000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr6:163003600-163004400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:163003600-163014400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:163004000-163004400	Enhancers	Ovary	ovary
44	chr6:163004000-163004800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:163004400-163007800	Weak transcription	Ovary	ovary
46	chr6:163005400-163005600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:163010000-163012000	Weak transcription	Psoas Muscle	Psoas
48	chr6:163010400-163011200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr6:163012000-163012200	Enhancers	Psoas Muscle	Psoas
50	chr6:163014000-163014400	Enhancers	Fetal Heart	heart

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