Variant report

Variant	nsv481684
Chromosome Location	chr6:162214983-162491971
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
2	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
3	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
4	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
5	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
6	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
7	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
8	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
9	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
10	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
11	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
12	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
13	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
14	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
15	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
16	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
17	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
18	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
19	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
20	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
21	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
22	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
23	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
24	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
25	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
26	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
27	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
28	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
29	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
30	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
31	chr6:162274815..162277621-chr6:162282085..162283805,2	K562	blood:
32	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:

No data

Extended variants
information (count: 10573 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:10573 , 50 per page) page: 1 2 3 4 5 6 7 ... 212

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554708200	chr6:162215025-162215026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546060747	chr6:162215045-162215046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574774032	chr6:162215063-162215064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147235370	chr6:162215117-162215118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368449510	chr6:162215123-162215124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552858979	chr6:162215127-162215128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572769273	chr6:162215143-162215144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544829058	chr6:162215193-162215194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140823603	chr6:162215231-162215232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201698686	chr6:162215245-162215246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199610570	chr6:162215270-162215271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188973896	chr6:162215338-162215339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576285402	chr6:162215358-162215359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544290140	chr6:162215364-162215365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560771933	chr6:162215398-162215399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529721754	chr6:162215404-162215405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368148963	chr6:162215415-162215416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75271049	chr6:162215422-162215423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117484212	chr6:162215456-162215457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532831437	chr6:162215496-162215497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528694631	chr6:162215518-162215519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552837960	chr6:162215523-162215524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114415597	chr6:162215571-162215572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538001768	chr6:162215582-162215583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191565525	chr6:162215583-162215584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543770303	chr6:162215775-162215776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568422553	chr6:162215782-162215783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533949976	chr6:162215807-162215808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372069669	chr6:162215902-162215903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531368900	chr6:162215924-162215925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544060101	chr6:162215942-162215943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144760327	chr6:162215978-162215979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183767006	chr6:162215979-162215980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112857896	chr6:162215985-162215986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558516065	chr6:162216000-162216001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369773077	chr6:162216003-162216004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529305427	chr6:162216041-162216042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187181677	chr6:162216058-162216059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559470041	chr6:162216062-162216063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529564041	chr6:162216074-162216075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554662931	chr6:162216084-162216085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144722970	chr6:162216106-162216107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540258680	chr6:162216162-162216163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560175070	chr6:162216205-162216206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532897089	chr6:162216206-162216207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546473628	chr6:162216213-162216214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533341588	chr6:162216214-162216215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562993751	chr6:162216215-162216216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191643205	chr6:162216223-162216224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57751791	chr6:162216229-162216230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Parkinson disease	21829596	CNVD

Chromatin state (count:960 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162213200-162220200	Weak transcription	Ovary	ovary
2	chr6:162213200-162229000	Weak transcription	Aorta	Aorta
3	chr6:162213600-162224800	Weak transcription	Left Ventricle	heart
4	chr6:162219400-162224400	Weak transcription	Right Ventricle	heart
5	chr6:162220000-162220600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:162220200-162220600	ZNF genes & repeats	Ovary	ovary
7	chr6:162220400-162220600	Enhancers	Brain Substantia Nigra	brain
8	chr6:162220400-162221000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:162220400-162221200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:162220600-162221000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:162220600-162221000	Flanking Active TSS	Brain Substantia Nigra	brain
12	chr6:162220600-162234600	Weak transcription	Ovary	ovary
13	chr6:162223800-162224400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:162223800-162224600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:162224000-162225400	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:162224400-162225600	Enhancers	Right Ventricle	heart
17	chr6:162224800-162225600	Enhancers	Left Ventricle	heart
18	chr6:162225000-162225400	Enhancers	Right Atrium	heart
19	chr6:162225400-162225800	Enhancers	Fetal Thymus	thymus
20	chr6:162225400-162226000	Enhancers	Fetal Heart	heart
21	chr6:162225800-162226200	Weak transcription	Fetal Thymus	thymus
22	chr6:162226200-162226800	Enhancers	Fetal Thymus	thymus
23	chr6:162226800-162227000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:162227000-162228600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:162230200-162230600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:162234600-162234800	ZNF genes & repeats	Ovary	ovary
27	chr6:162234800-162236200	Weak transcription	Ovary	ovary
28	chr6:162236400-162237200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:162236400-162237200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:162236400-162237400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:162236600-162237000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:162236600-162237000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:162236600-162237200	Enhancers	NHEK	skin
34	chr6:162236600-162237400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr6:162236600-162238200	Enhancers	Fetal Brain Male	brain
36	chr6:162237200-162238400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:162238200-162243200	Weak transcription	Fetal Brain Male	brain
38	chr6:162238400-162238600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr6:162243200-162243600	Enhancers	Fetal Brain Male	brain
40	chr6:162243600-162244400	Weak transcription	Fetal Brain Male	brain
41	chr6:162244400-162245200	Enhancers	Fetal Brain Male	brain
42	chr6:162245000-162245200	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr6:162245200-162246600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:162245200-162247600	Weak transcription	Fetal Brain Male	brain
45	chr6:162246600-162246800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:162246800-162247600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:162247600-162248400	Enhancers	Fetal Brain Male	brain
48	chr6:162247600-162250200	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr6:162247800-162248000	Enhancers	Primary hematopoietic stem cells	blood
50	chr6:162247800-162248000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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