Variant report

Variant	nsv1028918
Chromosome Location	chr6:162314554-162370772
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
2	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
3	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
4	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
5	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
6	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:
7	chr6:162313026..162315357-chr6:162317264..162319780,2	K562	blood:

No data

Extended variants
information (count: 2448 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:2448 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9347555	chr6:162314554-162314555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140945668	chr6:162314560-162314561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372321405	chr6:162314568-162314569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553141448	chr6:162314579-162314580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530420580	chr6:162314584-162314585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567986328	chr6:162314590-162314591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533851264	chr6:162314633-162314634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145832721	chr6:162314756-162314757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576898562	chr6:162314820-162314821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184925535	chr6:162314830-162314831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148972349	chr6:162314843-162314844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555979291	chr6:162314915-162314916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12207186	chr6:162314921-162314922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
14	rs552230004	chr6:162314961-162314962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190623070	chr6:162314962-162314963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570544866	chr6:162314973-162314974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574752937	chr6:162314974-162314975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540654256	chr6:162315002-162315003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377606647	chr6:162315013-162315014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114791814	chr6:162315038-162315039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9365340	chr6:162315069-162315070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557598933	chr6:162315095-162315096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181033177	chr6:162315104-162315105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143830720	chr6:162315160-162315161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373537929	chr6:162315187-162315188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550678984	chr6:162315188-162315189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548616883	chr6:162315229-162315230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562594335	chr6:162315263-162315264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56853464	chr6:162315285-162315286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs73785462	chr6:162315288-162315289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs148155187	chr6:162315296-162315297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186016503	chr6:162315369-162315370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564520878	chr6:162315375-162315376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566593992	chr6:162315378-162315379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73022571	chr6:162315385-162315386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs34333812	chr6:162315413-162315414	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143846595	chr6:162315421-162315422	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146451644	chr6:162315456-162315457	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77326043	chr6:162315463-162315464	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535328599	chr6:162315469-162315470	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114729414	chr6:162315492-162315493	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189694735	chr6:162315502-162315503	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540259922	chr6:162315513-162315514	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540692283	chr6:162315520-162315521	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570810061	chr6:162315532-162315533	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12208988	chr6:162315584-162315585	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs181261459	chr6:162315588-162315589	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546341983	chr6:162315616-162315617	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563037805	chr6:162315624-162315625	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531925530	chr6:162315625-162315626	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162310000-162327200	Weak transcription	Right Ventricle	heart
2	chr6:162312800-162316000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:162315400-162316000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr6:162315400-162316200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr6:162315600-162315800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr6:162315600-162317000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr6:162315800-162317000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:162316000-162317400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:162316000-162318200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr6:162316200-162316400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
11	chr6:162316200-162316800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr6:162316200-162322600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:162316600-162316800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:162316800-162317000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:162317200-162317400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
16	chr6:162318200-162322600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:162322600-162323000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:162322600-162323200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:162322800-162323200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:162322800-162323200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:162322800-162323200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:162322800-162323400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:162322800-162323400	Enhancers	Fetal Stomach	stomach
24	chr6:162322800-162323600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:162323000-162323400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:162323200-162325800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:162323600-162324200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:162324000-162324200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr6:162324200-162324400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:162324200-162329800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr6:162324800-162325000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:162325000-162325200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:162325200-162327200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:162325800-162326000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr6:162326000-162329800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:162327000-162328200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:162327200-162328200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr6:162327400-162328000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr6:162327400-162328200	Enhancers	Primary hematopoietic stem cells	blood
40	chr6:162329800-162330200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr6:162329800-162330400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:162329800-162330600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:162329800-162330800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:162330000-162330400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:162330200-162330400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr6:162330200-162333200	Weak transcription	Psoas Muscle	Psoas
47	chr6:162330400-162331800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:162330400-162338800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr6:162332200-162332400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:162336200-162343400	Weak transcription	Fetal Heart	heart

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