Variant report

Variant	nsv970668
Chromosome Location	chr6:163792636-163802489
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:163790875..163792483-chr6:163795194..163796907,2	K562	blood:
2	chr6:163799290..163800994-chr6:163802923..163805842,2	K562	blood:
3	chr6:163795985..163798916-chr6:163834719..163837021,2	K562	blood:
4	chr6:163795985..163800346-chr6:163833926..163837021,4	K562	blood:
5	chr6:163764450..163766246-chr6:163795182..163797686,2	K562	blood:
6	chr6:163799700..163801284-chr6:163804294..163805880,2	MCF-7	breast:
7	chr6:163801051..163802963-chr6:163805360..163807590,2	K562	blood:
8	chr6:163787459..163789359-chr6:163790484..163793224,2	K562	blood:
9	chr6:163800485..163802168-chr6:163807944..163809587,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112531	chromatin interactions
ENSG00000270419	chromatin interactions

Extended variants
information (count: 479 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:479 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150515792	chr6:163792686-163792687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139794904	chr6:163792688-163792689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141676718	chr6:163792708-163792709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575596473	chr6:163792741-163792742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545840628	chr6:163792745-163792746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112462300	chr6:163792777-163792778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146206181	chr6:163792804-163792805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548345365	chr6:163792805-163792806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2744419	chr6:163792807-163792808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs527552175	chr6:163792814-163792815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2744420	chr6:163792821-163792822	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs570804187	chr6:163792836-163792837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532945959	chr6:163792837-163792838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11751433	chr6:163792854-163792855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184686335	chr6:163792875-163792876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs61137923	chr6:163792883-163792884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148797648	chr6:163792897-163792898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568324569	chr6:163792938-163792939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188621479	chr6:163792947-163792948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576905014	chr6:163792948-163792949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142441165	chr6:163793004-163793005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2744421	chr6:163793032-163793033	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs546165259	chr6:163793033-163793034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141524742	chr6:163793071-163793072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147075273	chr6:163793105-163793106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181370724	chr6:163793110-163793111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575097979	chr6:163793117-163793118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541977095	chr6:163793146-163793147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561884589	chr6:163793236-163793237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527477074	chr6:163793263-163793264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541265867	chr6:163793301-163793302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569928577	chr6:163793304-163793305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147691554	chr6:163793308-163793309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12175129	chr6:163793322-163793323	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs372105536	chr6:163793325-163793326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140970012	chr6:163793326-163793327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6905884	chr6:163793362-163793363	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs185973176	chr6:163793366-163793367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574253876	chr6:163793423-163793424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11305037	chr6:163793446-163793447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397887893	chr6:163793456-163793457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79454930	chr6:163793457-163793458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548808142	chr6:163793478-163793479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376760492	chr6:163793479-163793480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6904749	chr6:163793489-163793490	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189235997	chr6:163793521-163793522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6906081	chr6:163793522-163793523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570789228	chr6:163793528-163793529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546188086	chr6:163793542-163793543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532209370	chr6:163793565-163793566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163791000-163792800	Enhancers	Brain Cingulate Gyrus	brain
2	chr6:163791000-163792800	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr6:163791000-163794200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:163791000-163794200	Weak transcription	Left Ventricle	heart
5	chr6:163791000-163813000	Weak transcription	Right Atrium	heart
6	chr6:163791200-163793800	Weak transcription	Spleen	Spleen
7	chr6:163791200-163794200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:163791400-163792800	Enhancers	Brain Angular Gyrus	brain
9	chr6:163791400-163792800	Enhancers	Brain Anterior Caudate	brain
10	chr6:163791600-163792800	Enhancers	Brain Substantia Nigra	brain
11	chr6:163791600-163793800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:163791800-163792800	Enhancers	Fetal Brain Male	brain
13	chr6:163792200-163794200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:163792400-163793200	Weak transcription	Fetal Heart	heart
15	chr6:163792400-163796200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:163792400-163796400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr6:163792600-163792800	Enhancers	Brain Germinal Matrix	brain
18	chr6:163792800-163794000	Weak transcription	Brain Substantia Nigra	brain
19	chr6:163793800-163794800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:163793800-163795200	Enhancers	Spleen	Spleen
21	chr6:163794000-163794200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:163794000-163794200	Enhancers	Brain Substantia Nigra	brain
23	chr6:163794000-163794200	Enhancers	Fetal Heart	heart
24	chr6:163794000-163794600	Bivalent Enhancer	HepG2	liver
25	chr6:163794200-163794600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:163794200-163794600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr6:163794200-163794600	Enhancers	Left Ventricle	heart
28	chr6:163794400-163794600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:163794600-163796400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:163794600-163801200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:163795200-163800000	Weak transcription	Spleen	Spleen
32	chr6:163796000-163796600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:163796200-163796800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:163796400-163796600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:163796800-163797200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:163797200-163798000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:163798000-163802400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:163799600-163800800	Enhancers	Lung	lung
39	chr6:163800000-163800800	Enhancers	Spleen	Spleen
40	chr6:163800400-163801200	Enhancers	Fetal Muscle Trunk	muscle
41	chr6:163800600-163801400	Enhancers	Fetal Muscle Leg	muscle
42	chr6:163800800-163802400	Enhancers	HepG2	liver
43	chr6:163800800-163803600	Weak transcription	Spleen	Spleen
44	chr6:163801000-163801400	Enhancers	Fetal Stomach	stomach
45	chr6:163801200-163801400	Enhancers	Brain Anterior Caudate	brain
46	chr6:163801200-163802200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr6:163801400-163802200	Weak transcription	Brain Anterior Caudate	brain
48	chr6:163801400-163802400	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:163802200-163802600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:163802200-163802600	Enhancers	Fetal Muscle Trunk	muscle

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