Variant report

Variant	nsv7988
Chromosome Location	chr6:162192543-162200812
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 398 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147793635	chr6:162192574-162192575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538314652	chr6:162192597-162192598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537768397	chr6:162192721-162192722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189308416	chr6:162192802-162192803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377270576	chr6:162192813-162192814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558154310	chr6:162192852-162192853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3016563	chr6:162192856-162192857	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs3016562	chr6:162192874-162192875	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs115504104	chr6:162192904-162192905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574978030	chr6:162192955-162192956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540830541	chr6:162192963-162192964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560627770	chr6:162192974-162192975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532668501	chr6:162192979-162192980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9458363	chr6:162192994-162192995	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs575448844	chr6:162193009-162193010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531723131	chr6:162193037-162193038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141778833	chr6:162193060-162193061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147080664	chr6:162193103-162193104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs529906992	chr6:162193137-162193138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546408454	chr6:162193159-162193160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191860506	chr6:162193163-162193164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576819684	chr6:162193198-162193199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538375968	chr6:162193203-162193204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79694060	chr6:162193207-162193208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115699476	chr6:162193208-162193209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568798243	chr6:162193218-162193219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113555568	chr6:162193270-162193271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554218314	chr6:162193327-162193328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575086483	chr6:162193361-162193362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540894081	chr6:162193400-162193401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184284591	chr6:162193433-162193434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151120917	chr6:162193434-162193435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546360370	chr6:162193454-162193455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562997427	chr6:162193477-162193478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141076458	chr6:162193478-162193479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112189541	chr6:162193482-162193483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9458364	chr6:162193485-162193486	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs530025632	chr6:162193489-162193490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572798823	chr6:162193509-162193510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117355081	chr6:162193517-162193518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188623293	chr6:162193518-162193519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551015034	chr6:162193548-162193549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6923728	chr6:162193557-162193558	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs537501769	chr6:162193559-162193560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77369827	chr6:162193564-162193565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181735652	chr6:162193565-162193566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534524547	chr6:162193578-162193579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543711841	chr6:162193646-162193647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs138754393	chr6:162193651-162193652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs58242744	chr6:162193653-162193654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
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
Schizophrenia	20967226	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162186600-162195000	Weak transcription	Brain Germinal Matrix	brain
2	chr6:162191400-162192600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:162191600-162209200	Weak transcription	Aorta	Aorta
4	chr6:162192600-162193400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:162192600-162194600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:162192800-162195000	Enhancers	Fetal Lung	lung
7	chr6:162193000-162193200	Enhancers	Fetal Kidney	kidney
8	chr6:162193400-162193600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr6:162193400-162193800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:162193600-162194600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:162193800-162195000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr6:162194200-162195000	Enhancers	Fetal Brain Female	brain
13	chr6:162194400-162194800	Enhancers	Brain Substantia Nigra	brain
14	chr6:162194600-162194800	Enhancers	Brain Hippocampus Middle	brain
15	chr6:162194600-162195000	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr6:162194600-162195600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:162194600-162195600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:162194800-162195000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr6:162194800-162195000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:162194800-162195000	Active TSS	Colon Smooth Muscle	Colon
21	chr6:162194800-162195200	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:162194800-162195200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr6:162194800-162195400	Active TSS	Brain Angular Gyrus	brain
24	chr6:162194800-162195400	Active TSS	Stomach Smooth Muscle	stomach
25	chr6:162194800-162195600	Enhancers	Adipose Nuclei	Adipose
26	chr6:162194800-162195600	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr6:162194800-162195600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr6:162194800-162195600	Enhancers	Rectal Smooth Muscle	rectum
29	chr6:162194800-162195800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:162194800-162195800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:162194800-162195800	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr6:162194800-162195800	Enhancers	Fetal Heart	heart
33	chr6:162194800-162195800	Enhancers	Fetal Kidney	kidney
34	chr6:162194800-162195800	Enhancers	Ovary	ovary
35	chr6:162194800-162196200	Enhancers	Fetal Brain Male	brain
36	chr6:162194800-162196200	Enhancers	Fetal Stomach	stomach
37	chr6:162195000-162195200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr6:162195000-162195200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:162195000-162195200	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr6:162195000-162195400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr6:162195000-162195400	Active TSS	Brain Anterior Caudate	brain
42	chr6:162195000-162195400	Active TSS	Brain Cingulate Gyrus	brain
43	chr6:162195000-162195400	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr6:162195000-162195400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr6:162195000-162195400	Flanking Active TSS	Fetal Brain Female	brain
46	chr6:162195000-162195600	Enhancers	Gastric	stomach
47	chr6:162195000-162195600	Enhancers	Spleen	Spleen
48	chr6:162195000-162195800	Flanking Active TSS	Fetal Lung	lung
49	chr6:162195000-162195800	Enhancers	Fetal Muscle Leg	muscle
50	chr6:162195000-162195800	Enhancers	Left Ventricle	heart

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