Variant report

Variant	nsv523485
Chromosome Location	chr6:162209619-162754606
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:62)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
2	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
3	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
4	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
5	chr6:162212614..162214396-chr6:162214709..162217609,2	MCF-7	breast:
6	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
7	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
8	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
9	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
10	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
11	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
12	chr6:162211723..162213448-chr6:162215614..162217575,2	K562	blood:
13	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
14	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
15	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
16	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
17	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
18	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
19	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
20	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
21	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
22	chr6:162291697..162293198-chr6:162305600..162307370,2	K562	blood:
23	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
24	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
25	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
26	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
27	chr6:162216587..162218691-chr6:162225101..162227602,2	K562	blood:
28	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
29	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
30	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
31	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
32	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
33	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
34	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
35	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
36	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
37	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
38	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
39	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
40	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
41	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
42	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
43	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
44	chr6:162232298..162233805-chr6:162237071..162239613,2	K562	blood:
45	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
46	chr6:162207547..162209957-chr6:162210445..162213994,3	K562	blood:
47	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
48	chr6:162307888..162309501-chr6:162310852..162312650,2	K562	blood:
49	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
50	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:

No data

Extended variants
information (count: 21205 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:21205 , 50 per page) page: 1 2 3 4 5 6 7 ... 425

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3019435	chr6:162209619-162209620	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192958932	chr6:162209652-162209653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543575688	chr6:162209654-162209655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3019434	chr6:162209664-162209665	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536991982	chr6:162209686-162209687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369886471	chr6:162209687-162209688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534076148	chr6:162209691-162209692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568499891	chr6:162209720-162209721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577169694	chr6:162209733-162209734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139990414	chr6:162209749-162209750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570570237	chr6:162209770-162209771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373853054	chr6:162209778-162209779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34629008	chr6:162209838-162209839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3019433	chr6:162209898-162209899	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371176859	chr6:162209919-162209920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3019432	chr6:162209960-162209961	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs554508401	chr6:162210020-162210021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75385380	chr6:162210044-162210045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566002015	chr6:162210127-162210128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116034366	chr6:162210172-162210173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114716934	chr6:162210177-162210178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545837699	chr6:162210246-162210247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184279194	chr6:162210314-162210315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112807175	chr6:162210327-162210328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558092987	chr6:162210333-162210334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149443663	chr6:162210351-162210352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562193812	chr6:162210354-162210355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73785410	chr6:162210366-162210367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6923635	chr6:162210379-162210380	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs570631146	chr6:162210391-162210392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533228718	chr6:162210399-162210400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112390699	chr6:162210404-162210405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569705604	chr6:162210422-162210423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371827134	chr6:162210431-162210432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144834619	chr6:162210436-162210437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3019431	chr6:162210450-162210451	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs6924923	chr6:162210457-162210458	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs534008646	chr6:162210462-162210463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148517299	chr6:162210475-162210476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73785411	chr6:162210479-162210480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577040807	chr6:162210494-162210495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545901439	chr6:162210500-162210501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566216267	chr6:162210537-162210538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575988768	chr6:162210547-162210548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9347541	chr6:162210660-162210661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs117037017	chr6:162210725-162210726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527947978	chr6:162210770-162210771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs207467557	chr6:162210791-162210792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188636528	chr6:162210837-162210838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181746385	chr6:162210865-162210866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Gastric cancer	22315472	CNVD
Autism	19404257	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Autism	22495309	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:1696 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162195800-162212800	Weak transcription	Left Ventricle	heart
2	chr6:162207800-162212400	Weak transcription	Ovary	ovary
3	chr6:162208000-162210600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:162208400-162210400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:162209200-162210200	Enhancers	NHEK	skin
6	chr6:162209600-162212800	Weak transcription	Aorta	Aorta
7	chr6:162212400-162213000	Strong transcription	Ovary	ovary
8	chr6:162212800-162213200	ZNF genes & repeats	Aorta	Aorta
9	chr6:162212800-162213200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
10	chr6:162212800-162213600	Strong transcription	Left Ventricle	heart
11	chr6:162213000-162213200	ZNF genes & repeats	Ovary	ovary
12	chr6:162213200-162214800	Enhancers	Brain Germinal Matrix	brain
13	chr6:162213200-162220200	Weak transcription	Ovary	ovary
14	chr6:162213200-162229000	Weak transcription	Aorta	Aorta
15	chr6:162213400-162214400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:162213600-162214800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:162213600-162224800	Weak transcription	Left Ventricle	heart
18	chr6:162219400-162224400	Weak transcription	Right Ventricle	heart
19	chr6:162220000-162220600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:162220200-162220600	ZNF genes & repeats	Ovary	ovary
21	chr6:162220400-162220600	Enhancers	Brain Substantia Nigra	brain
22	chr6:162220400-162221000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:162220400-162221200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr6:162220600-162221000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:162220600-162221000	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr6:162220600-162234600	Weak transcription	Ovary	ovary
27	chr6:162223800-162224400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:162223800-162224600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:162224000-162225400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr6:162224400-162225600	Enhancers	Right Ventricle	heart
31	chr6:162224800-162225600	Enhancers	Left Ventricle	heart
32	chr6:162225000-162225400	Enhancers	Right Atrium	heart
33	chr6:162225400-162225800	Enhancers	Fetal Thymus	thymus
34	chr6:162225400-162226000	Enhancers	Fetal Heart	heart
35	chr6:162225800-162226200	Weak transcription	Fetal Thymus	thymus
36	chr6:162226200-162226800	Enhancers	Fetal Thymus	thymus
37	chr6:162226800-162227000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:162227000-162228600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr6:162230200-162230600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:162234600-162234800	ZNF genes & repeats	Ovary	ovary
41	chr6:162234800-162236200	Weak transcription	Ovary	ovary
42	chr6:162236400-162237200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:162236400-162237200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:162236400-162237400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:162236600-162237000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:162236600-162237000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:162236600-162237200	Enhancers	NHEK	skin
48	chr6:162236600-162237400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:162236600-162238200	Enhancers	Fetal Brain Male	brain
50	chr6:162237200-162238400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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