Variant report

Variant	esv3375057
Chromosome Location	chr6:162166837-162168910
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554602585	chr6:162166858-162166859	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs574655658	chr6:162166868-162166869	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540102092	chr6:162166914-162166915	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs191068915	chr6:162166986-162166987	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs568729333	chr6:162166988-162166989	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs536103739	chr6:162167022-162167023	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs545514998	chr6:162167027-162167028	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs561568951	chr6:162167143-162167144	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562209458	chr6:162167176-162167177	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs531239873	chr6:162167184-162167185	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs548146204	chr6:162167186-162167187	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs149515284	chr6:162167226-162167227	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs183263646	chr6:162167267-162167268	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs547735058	chr6:162167268-162167269	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs187665350	chr6:162167296-162167297	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs540011778	chr6:162167342-162167343	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs191133110	chr6:162167344-162167345	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528851379	chr6:162167380-162167381	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs550590981	chr6:162167429-162167430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs535882426	chr6:162167431-162167432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4709549	chr6:162167441-162167442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs143999652	chr6:162167456-162167457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534095483	chr6:162167462-162167463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553752773	chr6:162167485-162167486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576640362	chr6:162167495-162167496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545578246	chr6:162167508-162167509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148692693	chr6:162167571-162167572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182505656	chr6:162167589-162167590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550102808	chr6:162167603-162167604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201173808	chr6:162167618-162167619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35645737	chr6:162167619-162167620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188415148	chr6:162167644-162167645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200364575	chr6:162167675-162167676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561734659	chr6:162167697-162167698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141300708	chr6:162167715-162167716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557783464	chr6:162167739-162167740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147430925	chr6:162167769-162167770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191680608	chr6:162167774-162167775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202170007	chr6:162167780-162167781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533604046	chr6:162167809-162167810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184356226	chr6:162167810-162167811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570212942	chr6:162167814-162167815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139500956	chr6:162167820-162167821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116682150	chr6:162167839-162167840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12206451	chr6:162167841-162167842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs3019445	chr6:162167899-162167900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187243488	chr6:162167900-162167901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554066097	chr6:162167914-162167915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192572050	chr6:162167921-162167922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559319614	chr6:162167922-162167923	Weak transcription	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
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Bipolar disorder	19114987	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162165000-162167200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr6:162165600-162167000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr6:162165600-162167200	Enhancers	Brain Germinal Matrix	brain
4	chr6:162165600-162169600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:162165800-162167200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:162166400-162167200	Enhancers	Brain Angular Gyrus	brain
7	chr6:162166400-162167400	Enhancers	Brain Cingulate Gyrus	brain
8	chr6:162166600-162167200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr6:162166600-162167400	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr6:162166600-162169600	Weak transcription	Pancreas	Pancrea
11	chr6:162166800-162167000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:162166800-162167200	Active TSS	Brain Anterior Caudate	brain
13	chr6:162166800-162167200	Enhancers	HepG2	liver
14	chr6:162166800-162167200	Flanking Active TSS	NH-A	brain
15	chr6:162166800-162167200	Active TSS	NHDF-Ad	bronchial
16	chr6:162166800-162167400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:162166800-162167400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:162166800-162167400	Flanking Active TSS	Brain Substantia Nigra	brain
19	chr6:162167000-162167200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr6:162167000-162167400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr6:162167200-162167400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:162167200-162167400	Enhancers	Brain Anterior Caudate	brain
23	chr6:162167200-162169600	Weak transcription	Brain Angular Gyrus	brain
24	chr6:162167200-162169600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr6:162167200-162171400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr6:162167200-162171400	Weak transcription	NH-A	brain
27	chr6:162167400-162167600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr6:162167400-162169400	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:162167400-162169600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr6:162167400-162169800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:162167400-162169800	Weak transcription	Brain Anterior Caudate	brain
32	chr6:162167400-162169800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:162167400-162170000	Weak transcription	Brain Substantia Nigra	brain
34	chr6:162167600-162169600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:162168800-162169400	Enhancers	Liver	Liver

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