Variant report

Variant	nsv464125
Chromosome Location	chr6:163159187-163221792
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163204105..163206331-chr6:163210537..163212839,2	K562	blood:
2	chr6:163204105..163206331-chr6:163210537..163212839,2	K562	blood:
3	chr6:163146966..163150271-chr6:163157232..163160053,3	K562	blood:

Variant related genes	Relation type
ENSG00000185345	chromatin interactions
ENSG00000112530	chromatin interactions

Extended variants
information (count: 453 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13195186	chr6:163159187-163159188	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs55829877	chr6:163159195-163159196	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs528706882	chr6:163159227-163159228	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs192217299	chr6:163159234-163159235	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546967877	chr6:163159253-163159254	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs61489355	chr6:163159278-163159279	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571868371	chr6:163159279-163159280	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs532716146	chr6:163159344-163159345	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs538530205	chr6:163159349-163159350	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs13209100	chr6:163159350-163159351	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs575304091	chr6:163159375-163159376	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs141733543	chr6:163159409-163159410	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs113590174	chr6:163159410-163159411	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs139963809	chr6:163159414-163159415	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs10455918	chr6:163159449-163159450	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559811904	chr6:163159491-163159492	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs528507805	chr6:163159625-163159626	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs182676204	chr6:163159664-163159665	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs371695847	chr6:163159665-163159666	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs187858922	chr6:163159669-163159670	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs527769712	chr6:163159752-163159753	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs531008410	chr6:163159802-163159803	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs191920569	chr6:163159818-163159819	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs567461294	chr6:163159841-163159842	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs369406960	chr6:163159844-163159845	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs74878358	chr6:163159910-163159911	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534779164	chr6:163159950-163159951	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs546312744	chr6:163159979-163159980	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs566312617	chr6:163159992-163159993	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs538635485	chr6:163159993-163159994	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs558522999	chr6:163160016-163160017	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs552897010	chr6:163160047-163160048	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs535476441	chr6:163160050-163160051	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs538026723	chr6:163160137-163160138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546799412	chr6:163160202-163160203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554837625	chr6:163160218-163160219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574160402	chr6:163160222-163160223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577838604	chr6:163160237-163160238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146188623	chr6:163160324-163160325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4533964	chr6:163160325-163160326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113411758	chr6:163160336-163160337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545433117	chr6:163160424-163160425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565430583	chr6:163160449-163160450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575928209	chr6:163160464-163160465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544380912	chr6:163160476-163160477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556695905	chr6:163160516-163160517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561120931	chr6:163160533-163160534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182712564	chr6:163160548-163160549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371676277	chr6:163160593-163160594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186994644	chr6:163160601-163160602	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163148800-163165400	Weak transcription	Gastric	stomach
2	chr6:163165400-163165600	Active TSS	Gastric	stomach
3	chr6:163167600-163168200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:163171200-163172800	Enhancers	A549	lung
5	chr6:163171600-163172200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:163171600-163172400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr6:163171800-163172200	Enhancers	NH-A	brain
8	chr6:163172200-163172600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:163172600-163173000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:163181200-163181600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
11	chr6:163181200-163181800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:163183600-163184000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr6:163186200-163186600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:163186200-163186600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:163192800-163194400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:163192800-163194400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:163206600-163207200	Enhancers	Left Ventricle	heart
18	chr6:163206800-163207000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:163206800-163207200	Enhancers	Right Atrium	heart
20	chr6:163219400-163219800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr6:163219600-163219800	Enhancers	Brain Substantia Nigra	brain
22	chr6:163219600-163220000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:163219800-163220200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr6:163219800-163220200	Active TSS	Brain Substantia Nigra	brain
25	chr6:163220000-163220200	Enhancers	Brain Angular Gyrus	brain
26	chr6:163221000-163221200	Enhancers	Brain Substantia Nigra	brain

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