Variant report

Variant	nsv481935
Chromosome Location	chr6:162159732-162255206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
2	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
3	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
4	chr20:46012429..46013123-chr6:162169752..162170322,2	MCF-7	breast:
5	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
6	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
7	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
8	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
9	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
10	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
11	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:

No data

Extended variants
information (count: 4147 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:4147 , 50 per page) page: 1 2 3 4 5 6 7 ... 83

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143239008	chr6:162159750-162159751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537283489	chr6:162159775-162159776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557167525	chr6:162159863-162159864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs16892983	chr6:162159882-162159883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549076995	chr6:162159890-162159891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553066893	chr6:162159927-162159928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572802130	chr6:162159986-162159987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544653650	chr6:162159995-162159996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192819495	chr6:162160011-162160012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185203127	chr6:162160069-162160070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376657400	chr6:162160090-162160091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544819243	chr6:162160118-162160119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565670602	chr6:162160148-162160149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190101100	chr6:162160157-162160158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12206142	chr6:162160158-162160159	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs540332759	chr6:162160226-162160227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560184562	chr6:162160240-162160241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573653041	chr6:162160245-162160246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147080517	chr6:162160293-162160294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372944192	chr6:162160309-162160310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117292385	chr6:162160310-162160311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114774209	chr6:162160313-162160314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550837550	chr6:162160335-162160336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368763161	chr6:162160354-162160355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567482103	chr6:162160362-162160363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138551864	chr6:162160370-162160371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144055813	chr6:162160401-162160402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566411427	chr6:162160425-162160426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553574485	chr6:162160447-162160448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144236851	chr6:162160503-162160504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148730458	chr6:162160518-162160519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372163340	chr6:162160540-162160541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575940490	chr6:162160544-162160545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538158428	chr6:162160546-162160547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141411232	chr6:162160550-162160551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150860593	chr6:162160566-162160567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571832586	chr6:162160567-162160568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182203987	chr6:162160577-162160578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539347331	chr6:162160579-162160580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557441749	chr6:162160586-162160587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577243317	chr6:162160645-162160646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546222234	chr6:162160777-162160778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139295506	chr6:162160827-162160828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3019451	chr6:162160837-162160838	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs186374544	chr6:162160850-162160851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538249823	chr6:162160878-162160879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537167078	chr6:162160917-162160918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367693883	chr6:162160935-162160936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561140395	chr6:162160947-162160948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529932873	chr6:162160948-162160949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162158000-162165400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:162161200-162161400	Enhancers	Duodenum Mucosa	Duodenum
3	chr6:162161400-162161800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:162161400-162161800	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr6:162161800-162162600	Enhancers	Duodenum Mucosa	Duodenum
6	chr6:162161800-162163800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:162163800-162164000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:162163800-162164800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:162164000-162164400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:162164400-162165600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:162164600-162165000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:162164800-162165000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:162164800-162165600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:162164800-162166800	Enhancers	NH-A	brain
15	chr6:162165000-162166800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:162165000-162167200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr6:162165400-162165600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:162165400-162166800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:162165600-162165800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:162165600-162167000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr6:162165600-162167200	Enhancers	Brain Germinal Matrix	brain
22	chr6:162165600-162169600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:162165800-162166800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:162165800-162167200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:162166400-162166600	Enhancers	Brain Hippocampus Middle	brain
26	chr6:162166400-162166600	Enhancers	Pancreas	Pancrea
27	chr6:162166400-162166800	Enhancers	Brain Substantia Nigra	brain
28	chr6:162166400-162167200	Enhancers	Brain Angular Gyrus	brain
29	chr6:162166400-162167400	Enhancers	Brain Cingulate Gyrus	brain
30	chr6:162166600-162166800	Enhancers	Brain Anterior Caudate	brain
31	chr6:162166600-162167200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr6:162166600-162167400	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr6:162166600-162169600	Weak transcription	Pancreas	Pancrea
34	chr6:162166800-162167000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:162166800-162167200	Active TSS	Brain Anterior Caudate	brain
36	chr6:162166800-162167200	Enhancers	HepG2	liver
37	chr6:162166800-162167200	Flanking Active TSS	NH-A	brain
38	chr6:162166800-162167200	Active TSS	NHDF-Ad	bronchial
39	chr6:162166800-162167400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:162166800-162167400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:162166800-162167400	Flanking Active TSS	Brain Substantia Nigra	brain
42	chr6:162167000-162167200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:162167000-162167400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr6:162167200-162167400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:162167200-162167400	Enhancers	Brain Anterior Caudate	brain
46	chr6:162167200-162169600	Weak transcription	Brain Angular Gyrus	brain
47	chr6:162167200-162169600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr6:162167200-162171400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr6:162167200-162171400	Weak transcription	NH-A	brain
50	chr6:162167400-162167600	Enhancers	Cortex derived primary cultured neurospheres	brain

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