Variant report

Variant	nsv886832
Chromosome Location	chr6:162196730-162288538
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
2	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
3	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
4	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
5	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
6	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
7	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
8	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
9	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
10	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
11	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
12	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
13	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
14	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:

No data

Extended variants
information (count: 3912 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:3912 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9458366	chr6:162196730-162196731	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs549350430	chr6:162196750-162196751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76992571	chr6:162196760-162196761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371248297	chr6:162196829-162196830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74974674	chr6:162196933-162196934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573850265	chr6:162196936-162196937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183755342	chr6:162196954-162196955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188864510	chr6:162196961-162196962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75821374	chr6:162196979-162196980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530180625	chr6:162196995-162196996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547030312	chr6:162197069-162197070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566842367	chr6:162197098-162197099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3016561	chr6:162197114-162197115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191629108	chr6:162197127-162197128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138327127	chr6:162197141-162197142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571391484	chr6:162197144-162197145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561991054	chr6:162197182-162197183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368507041	chr6:162197183-162197184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537247259	chr6:162197221-162197222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556831043	chr6:162197248-162197249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567030818	chr6:162197257-162197258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535914918	chr6:162197265-162197266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60744651	chr6:162197314-162197315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs57706700	chr6:162197326-162197327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545420240	chr6:162197350-162197351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77054136	chr6:162197386-162197387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114289601	chr6:162197403-162197404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544802965	chr6:162197408-162197409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561293999	chr6:162197419-162197420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530236974	chr6:162197430-162197431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9456709	chr6:162197458-162197459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76523236	chr6:162197517-162197518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560503999	chr6:162197519-162197520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532539701	chr6:162197527-162197528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78036708	chr6:162197579-162197580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77378936	chr6:162197607-162197608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76452850	chr6:162197616-162197617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115645106	chr6:162197634-162197635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76170373	chr6:162197650-162197651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535977210	chr6:162197654-162197655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577682236	chr6:162197659-162197660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564317230	chr6:162197671-162197672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566179619	chr6:162197727-162197728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538633416	chr6:162197757-162197758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185208435	chr6:162197762-162197763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572020362	chr6:162197831-162197832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575912331	chr6:162197864-162197865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538125350	chr6:162197884-162197885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112354085	chr6:162197893-162197894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190107084	chr6:162197902-162197903	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:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162191600-162209200	Weak transcription	Aorta	Aorta
2	chr6:162195800-162212800	Weak transcription	Left Ventricle	heart
3	chr6:162203200-162207600	Weak transcription	Adipose Nuclei	Adipose
4	chr6:162207800-162212400	Weak transcription	Ovary	ovary
5	chr6:162208000-162210600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:162208400-162210400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:162209200-162209600	ZNF genes & repeats	Aorta	Aorta
8	chr6:162209200-162210200	Enhancers	NHEK	skin
9	chr6:162209600-162212800	Weak transcription	Aorta	Aorta
10	chr6:162212400-162213000	Strong transcription	Ovary	ovary
11	chr6:162212800-162213200	ZNF genes & repeats	Aorta	Aorta
12	chr6:162212800-162213200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
13	chr6:162212800-162213600	Strong transcription	Left Ventricle	heart
14	chr6:162213000-162213200	ZNF genes & repeats	Ovary	ovary
15	chr6:162213200-162214800	Enhancers	Brain Germinal Matrix	brain
16	chr6:162213200-162220200	Weak transcription	Ovary	ovary
17	chr6:162213200-162229000	Weak transcription	Aorta	Aorta
18	chr6:162213400-162214400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:162213600-162214800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr6:162213600-162224800	Weak transcription	Left Ventricle	heart
21	chr6:162219400-162224400	Weak transcription	Right Ventricle	heart
22	chr6:162220000-162220600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:162220200-162220600	ZNF genes & repeats	Ovary	ovary
24	chr6:162220400-162220600	Enhancers	Brain Substantia Nigra	brain
25	chr6:162220400-162221000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:162220400-162221200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:162220600-162221000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:162220600-162221000	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr6:162220600-162234600	Weak transcription	Ovary	ovary
30	chr6:162223800-162224400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:162223800-162224600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:162224000-162225400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr6:162224400-162225600	Enhancers	Right Ventricle	heart
34	chr6:162224800-162225600	Enhancers	Left Ventricle	heart
35	chr6:162225000-162225400	Enhancers	Right Atrium	heart
36	chr6:162225400-162225800	Enhancers	Fetal Thymus	thymus
37	chr6:162225400-162226000	Enhancers	Fetal Heart	heart
38	chr6:162225800-162226200	Weak transcription	Fetal Thymus	thymus
39	chr6:162226200-162226800	Enhancers	Fetal Thymus	thymus
40	chr6:162226800-162227000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr6:162227000-162228600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:162230200-162230600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:162234600-162234800	ZNF genes & repeats	Ovary	ovary
44	chr6:162234800-162236200	Weak transcription	Ovary	ovary
45	chr6:162236400-162237200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:162236400-162237200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:162236400-162237400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:162236600-162237000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:162236600-162237000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr6:162236600-162237200	Enhancers	NHEK	skin

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