Variant report

Variant	esv3332653
Chromosome Location	chr6:161927173-161929569
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562548778	chr6:161927177-161927178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531555744	chr6:161927187-161927188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9458290	chr6:161927199-161927200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560892684	chr6:161927216-161927217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9458291	chr6:161927232-161927233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10806747	chr6:161927259-161927260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566514260	chr6:161927354-161927355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182774529	chr6:161927359-161927360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369661569	chr6:161927431-161927432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372440087	chr6:161927472-161927473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550634116	chr6:161927500-161927501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141060868	chr6:161927501-161927502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9456679	chr6:161927524-161927525	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs116117177	chr6:161927533-161927534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534193896	chr6:161927537-161927538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150267839	chr6:161927538-161927539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569858868	chr6:161927541-161927542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539933988	chr6:161927555-161927556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138981169	chr6:161927578-161927579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576122804	chr6:161927580-161927581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188334590	chr6:161927611-161927612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4708911	chr6:161927673-161927674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4708912	chr6:161927706-161927707	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs150290258	chr6:161927709-161927710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540127125	chr6:161927715-161927716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4708913	chr6:161927724-161927725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184081938	chr6:161927750-161927751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4709533	chr6:161927768-161927769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs481910	chr6:161927794-161927795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs531420841	chr6:161927800-161927801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76645778	chr6:161927821-161927822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs482675	chr6:161927831-161927832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs505845	chr6:161927859-161927860	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs1474767	chr6:161927875-161927876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs482845	chr6:161927886-161927887	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549021300	chr6:161927889-161927890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568969463	chr6:161927951-161927952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556319831	chr6:161927953-161927954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576166021	chr6:161927959-161927960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149431555	chr6:161927960-161927961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367736611	chr6:161927981-161927982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs16892658	chr6:161928034-161928035	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs572303702	chr6:161928047-161928048	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs545904436	chr6:161928123-161928124	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs28420593	chr6:161928140-161928141	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147446380	chr6:161928182-161928183	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs35631994	chr6:161928183-161928184	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs577045090	chr6:161928200-161928201	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs138309085	chr6:161928251-161928252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73591656	chr6:161928309-161928310	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

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
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161904800-161927800	Weak transcription	Fetal Kidney	kidney
2	chr6:161925400-161927600	Weak transcription	Psoas Muscle	Psoas
3	chr6:161925400-161931600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:161927600-161928000	Enhancers	Fetal Muscle Trunk	muscle
5	chr6:161927600-161928600	Enhancers	Fetal Muscle Leg	muscle
6	chr6:161927800-161928400	Enhancers	Fetal Kidney	kidney
7	chr6:161927800-161928800	Enhancers	HSMM	muscle
8	chr6:161928000-161928200	ZNF genes & repeats	Psoas Muscle	Psoas
9	chr6:161928000-161928600	Enhancers	Left Ventricle	heart
10	chr6:161928000-161928800	Enhancers	HSMMtube	muscle
11	chr6:161928200-161937000	Weak transcription	Psoas Muscle	Psoas
12	chr6:161928400-161932600	Weak transcription	Fetal Kidney	kidney
13	chr6:161928600-161932600	Weak transcription	Left Ventricle	heart
14	chr6:161928800-161929000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:161928800-161929000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived

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