Variant report

Variant	nsv482014
Chromosome Location	chr6:162165178-162269436
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:46012429..46013123-chr6:162169752..162170322,2	MCF-7	breast:
2	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
3	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
4	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
5	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
6	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
7	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
8	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
9	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
10	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
11	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
12	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
13	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:

No data

Extended variants
information (count: 4484 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:4484 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148382491	chr6:162165181-162165182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532489658	chr6:162165203-162165204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551404975	chr6:162165215-162165216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377146177	chr6:162165222-162165223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375859155	chr6:162165254-162165255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565140743	chr6:162165323-162165324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189326658	chr6:162165331-162165332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550772378	chr6:162165361-162165362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs16892988	chr6:162165362-162165363	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs569177583	chr6:162165374-162165375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs3019448	chr6:162165409-162165410	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs546637116	chr6:162165425-162165426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12199657	chr6:162165481-162165482	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538600812	chr6:162165519-162165520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558840189	chr6:162165553-162165554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181355052	chr6:162165559-162165560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538095241	chr6:162165560-162165561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554732047	chr6:162165668-162165669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574935662	chr6:162165712-162165713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76749080	chr6:162165714-162165715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62439168	chr6:162165716-162165717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140586512	chr6:162165746-162165747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186691243	chr6:162165754-162165755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16892989	chr6:162165761-162165762	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs77574885	chr6:162165793-162165794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78195232	chr6:162165805-162165806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12207329	chr6:162165859-162165860	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371448324	chr6:162165885-162165886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561075266	chr6:162165886-162165887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529853779	chr6:162165895-162165896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs207467556	chr6:162165936-162165937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs59407549	chr6:162165949-162165950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs191118885	chr6:162165990-162165991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112074533	chr6:162165994-162165995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113266789	chr6:162165999-162166000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150405520	chr6:162166001-162166002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73783386	chr6:162166002-162166003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554795232	chr6:162166021-162166022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568582902	chr6:162166029-162166030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546125772	chr6:162166074-162166075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114393042	chr6:162166091-162166092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554005402	chr6:162166093-162166094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73783387	chr6:162166122-162166123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs367676387	chr6:162166149-162166150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs3019447	chr6:162166163-162166164	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs113264245	chr6:162166169-162166170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146101858	chr6:162166180-162166181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375296258	chr6:162166183-162166184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181729979	chr6:162166202-162166203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561208644	chr6:162166258-162166259	Weak transcription Enhancers	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:469 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162158000-162165400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:162164400-162165600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:162164800-162165600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:162164800-162166800	Enhancers	NH-A	brain
5	chr6:162165000-162166800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:162165000-162167200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr6:162165400-162165600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:162165400-162166800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:162165600-162165800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:162165600-162167000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:162165600-162167200	Enhancers	Brain Germinal Matrix	brain
12	chr6:162165600-162169600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:162165800-162166800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:162165800-162167200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:162166400-162166600	Enhancers	Brain Hippocampus Middle	brain
16	chr6:162166400-162166600	Enhancers	Pancreas	Pancrea
17	chr6:162166400-162166800	Enhancers	Brain Substantia Nigra	brain
18	chr6:162166400-162167200	Enhancers	Brain Angular Gyrus	brain
19	chr6:162166400-162167400	Enhancers	Brain Cingulate Gyrus	brain
20	chr6:162166600-162166800	Enhancers	Brain Anterior Caudate	brain
21	chr6:162166600-162167200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr6:162166600-162167400	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr6:162166600-162169600	Weak transcription	Pancreas	Pancrea
24	chr6:162166800-162167000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:162166800-162167200	Active TSS	Brain Anterior Caudate	brain
26	chr6:162166800-162167200	Enhancers	HepG2	liver
27	chr6:162166800-162167200	Flanking Active TSS	NH-A	brain
28	chr6:162166800-162167200	Active TSS	NHDF-Ad	bronchial
29	chr6:162166800-162167400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:162166800-162167400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:162166800-162167400	Flanking Active TSS	Brain Substantia Nigra	brain
32	chr6:162167000-162167200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:162167000-162167400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr6:162167200-162167400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:162167200-162167400	Enhancers	Brain Anterior Caudate	brain
36	chr6:162167200-162169600	Weak transcription	Brain Angular Gyrus	brain
37	chr6:162167200-162169600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:162167200-162171400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr6:162167200-162171400	Weak transcription	NH-A	brain
40	chr6:162167400-162167600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr6:162167400-162169400	Weak transcription	Brain Hippocampus Middle	brain
42	chr6:162167400-162169600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr6:162167400-162169800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:162167400-162169800	Weak transcription	Brain Anterior Caudate	brain
45	chr6:162167400-162169800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:162167400-162170000	Weak transcription	Brain Substantia Nigra	brain
47	chr6:162167600-162169600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:162168800-162169400	Enhancers	Liver	Liver
49	chr6:162169400-162169600	Enhancers	Fetal Brain Male	brain
50	chr6:162169400-162169800	Active TSS	Liver	Liver

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