Variant report

Variant	nsv481934
Chromosome Location	chr6:162110318-162156441
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162115124..162116676-chr6:162119287..162121862,2	K562	blood:
2	chr6:162039551..162040468-chr6:162115665..162116674,7	MCF-7	breast:
3	chr6:162115124..162116676-chr6:162119287..162121862,2	K562	blood:
4	chr6:162111336..162114011-chr6:162137192..162139483,2	K562	blood:
5	chr6:161813445..161815530-chr6:162115453..162117705,2	MCF-7	breast:
6	chr6:162135808..162138276-chr6:162142475..162145172,2	K562	blood:
7	chr6:162135808..162138276-chr6:162142475..162145172,2	K562	blood:
8	chr6:162111336..162114011-chr6:162137192..162139483,2	K562	blood:

No data

Extended variants
information (count: 1970 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1970 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552781093	chr6:162110319-162110320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183037280	chr6:162110347-162110348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187445233	chr6:162110365-162110366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142614673	chr6:162110410-162110411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111304043	chr6:162110430-162110431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568451937	chr6:162110456-162110457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192931490	chr6:162110479-162110480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs6455760	chr6:162110497-162110498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566410639	chr6:162110560-162110561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140594067	chr6:162110561-162110562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184614046	chr6:162110583-162110584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144224885	chr6:162110585-162110586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533231679	chr6:162110587-162110588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540468076	chr6:162110618-162110619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560378621	chr6:162110623-162110624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537947872	chr6:162110632-162110633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529045583	chr6:162110634-162110635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554326422	chr6:162110691-162110692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549103107	chr6:162110710-162110711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201424446	chr6:162110743-162110744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540229581	chr6:162110744-162110745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568895291	chr6:162110747-162110748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189033748	chr6:162110748-162110749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs116568068	chr6:162110749-162110750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531771840	chr6:162110772-162110773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575937720	chr6:162110804-162110805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6930628	chr6:162110806-162110807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs562040694	chr6:162110834-162110835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2013459	chr6:162110863-162110864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs369907285	chr6:162110901-162110902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113469310	chr6:162110906-162110907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570480605	chr6:162110930-162110931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs5881426	chr6:162110946-162110947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34445656	chr6:162110947-162110948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146506993	chr6:162110950-162110951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs3066559	chr6:162110954-162110955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190678450	chr6:162110958-162110959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552004435	chr6:162110962-162110963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs5881427	chr6:162110983-162110984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3066563	chr6:162110984-162110985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs398066456	chr6:162110985-162110986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569040067	chr6:162110991-162110992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112771129	chr6:162110996-162110997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113572338	chr6:162111004-162111005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568040280	chr6:162111009-162111010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533804079	chr6:162111079-162111080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9347534	chr6:162111087-162111088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553817894	chr6:162111115-162111116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369246785	chr6:162111133-162111134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576860882	chr6:162111147-162111148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162098800-162118000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:162115600-162116200	Enhancers	Liver	Liver
3	chr6:162116400-162119000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:162117000-162119000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:162117600-162119000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:162117800-162118600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:162117800-162118800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:162118000-162118200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:162118000-162118600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:162118200-162118800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:162118400-162118800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:162118600-162122000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:162119600-162135600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:162120200-162121600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:162122000-162122600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:162122000-162122600	Enhancers	Brain Hippocampus Middle	brain
17	chr6:162125600-162127400	Weak transcription	Aorta	Aorta
18	chr6:162126800-162127200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:162126800-162127400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:162126800-162127400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:162127000-162127600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:162127400-162127600	ZNF genes & repeats	Aorta	Aorta
23	chr6:162137000-162137400	Enhancers	Fetal Brain Male	brain
24	chr6:162137000-162138000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr6:162137200-162138000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:162137600-162138000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:162137800-162138400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr6:162138000-162143000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:162138000-162148200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:162138400-162139800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:162139800-162141000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:162141000-162141400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:162141400-162141600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:162141600-162148000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:162142200-162142800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:162142800-162148000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:162143000-162143200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:162147600-162148800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr6:162147800-162148400	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr6:162147800-162148800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:162148000-162148600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr6:162148000-162148800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr6:162148000-162148800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:162148000-162148800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:162148000-162148800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:162148000-162148800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:162148000-162148800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr6:162148000-162148800	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr6:162148000-162149600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:162148200-162148600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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