Variant report

Variant	nsv886915
Chromosome Location	chr6:163250778-163289067
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:72393798..72394589-chr6:163273105..163273631,2	MCF-7	breast:
2	chr6:163258403..163260425-chr6:163266356..163268701,2	K562	blood:
3	chr6:162863816..162864618-chr6:163271757..163272511,2	MCF-7	breast:
4	chr6:163258403..163260425-chr6:163266356..163268701,2	K562	blood:

Extended variants
information (count: 954 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:954 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77209401	chr6:163251813-163251814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs9347692	chr6:163251819-163251820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs547681112	chr6:163251855-163251856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556295027	chr6:163251868-163251869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564407745	chr6:163251888-163251889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527262704	chr6:163251919-163251920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77353432	chr6:163251945-163251946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188935281	chr6:163251974-163251975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577925933	chr6:163251975-163251976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552163851	chr6:163252007-163252008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570437042	chr6:163252057-163252058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192466689	chr6:163252065-163252066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370700839	chr6:163252075-163252076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531669974	chr6:163252090-163252091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548663851	chr6:163252116-163252117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79012677	chr6:163252130-163252131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533945692	chr6:163252144-163252145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370031649	chr6:163252149-163252150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79119533	chr6:163252186-163252187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184442915	chr6:163252211-163252212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556442986	chr6:163252227-163252228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139528179	chr6:163252251-163252252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78594110	chr6:163252267-163252268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555456326	chr6:163252296-163252297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1877769	chr6:163252315-163252316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs78771539	chr6:163252323-163252324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1877770	chr6:163252354-163252355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs368147544	chr6:163252363-163252364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558169721	chr6:163252630-163252631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs149684390	chr6:163252653-163252654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs570524670	chr6:163252743-163252744	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs372095951	chr6:163252745-163252746	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs113639202	chr6:163252785-163252786	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs567265268	chr6:163265200-163265201	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs36167355	chr6:163265238-163265239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs369964904	chr6:163265274-163265275	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs184987509	chr6:163265278-163265279	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs552706196	chr6:163265279-163265280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs374019681	chr6:163265286-163265287	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs9458654	chr6:163265294-163265295	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs558005025	chr6:163265301-163265302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs577948850	chr6:163265304-163265305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs543496740	chr6:163265306-163265307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs34462734	chr6:163265308-163265309	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181049858	chr6:163265310-163265311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs9458655	chr6:163265311-163265312	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543347085	chr6:163265315-163265316	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs79325399	chr6:163265316-163265317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs559954975	chr6:163265321-163265322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs80015009	chr6:163265328-163265329	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:396 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163251800-163252400	Weak transcription	Brain Anterior Caudate	brain
2	chr6:163252600-163252800	ZNF genes & repeats	Brain Anterior Caudate	brain
3	chr6:163265200-163265600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr6:163265600-163270200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:163267000-163267400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:163267000-163268000	Enhancers	Esophagus	oesophagus
7	chr6:163267000-163268200	ZNF genes & repeats	Pancreas	Pancrea
8	chr6:163267200-163267400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr6:163267400-163275800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:163267600-163267800	Enhancers	Fetal Heart	heart
11	chr6:163268000-163269000	Weak transcription	Fetal Heart	heart
12	chr6:163268200-163273200	Weak transcription	Pancreas	Pancrea
13	chr6:163268600-163268800	Enhancers	Brain Germinal Matrix	brain
14	chr6:163268800-163269800	Weak transcription	Brain Germinal Matrix	brain
15	chr6:163269000-163270000	Enhancers	Brain Cingulate Gyrus	brain
16	chr6:163269000-163270600	Enhancers	Fetal Heart	heart
17	chr6:163269200-163269800	Enhancers	Brain Anterior Caudate	brain
18	chr6:163269200-163270000	Enhancers	Brain Substantia Nigra	brain
19	chr6:163269400-163269600	Enhancers	Brain Hippocampus Middle	brain
20	chr6:163269400-163269800	Enhancers	Brain Angular Gyrus	brain
21	chr6:163269600-163269800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr6:163269600-163270600	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr6:163269800-163270000	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr6:163269800-163270200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr6:163269800-163270600	Flanking Active TSS	Brain Angular Gyrus	brain
26	chr6:163269800-163270600	Enhancers	Brain Germinal Matrix	brain
27	chr6:163270000-163270200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:163270000-163270200	Active TSS	Brain Anterior Caudate	brain
29	chr6:163270000-163270400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr6:163270000-163270400	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr6:163270000-163270400	Enhancers	Fetal Brain Male	brain
32	chr6:163270000-163270600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:163270000-163270600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:163270000-163270600	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr6:163270200-163270400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:163270200-163270400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:163270200-163270400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr6:163270200-163270400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr6:163270200-163270400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:163270200-163270600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr6:163270200-163270600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:163270200-163270600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:163270200-163270600	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr6:163270200-163270600	Enhancers	Left Ventricle	heart
45	chr6:163270200-163270800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:163270200-163271000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:163270200-163271200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:163270400-163270600	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr6:163270400-163270600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:163270400-163270600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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