Variant report

Variant	nsv481699
Chromosome Location	chr6:162322184-162441667
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	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
2	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
3	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
4	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
5	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
6	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
7	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
8	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
9	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
10	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
11	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
12	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
13	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
14	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:

No data

Extended variants
information (count: 4162 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:4162 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528532133	chr6:162322191-162322192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551571448	chr6:162322247-162322248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369826125	chr6:162322248-162322249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565409146	chr6:162322249-162322250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531010421	chr6:162322258-162322259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555503105	chr6:162322259-162322260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574074662	chr6:162322303-162322304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191863078	chr6:162322313-162322314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9355958	chr6:162322332-162322333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs149493379	chr6:162322348-162322349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376999191	chr6:162322349-162322350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556629514	chr6:162322381-162322382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575300079	chr6:162322400-162322401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73022590	chr6:162322406-162322407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183407899	chr6:162322456-162322457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558347221	chr6:162322459-162322460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376509528	chr6:162322569-162322570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537605428	chr6:162322602-162322603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187901149	chr6:162322633-162322634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574363710	chr6:162322639-162322640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192416275	chr6:162322642-162322643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553687847	chr6:162322677-162322678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9365346	chr6:162322697-162322698	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545433247	chr6:162322763-162322764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533714174	chr6:162322790-162322791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112703456	chr6:162322844-162322845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544431005	chr6:162322904-162322905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9355960	chr6:162322911-162322912	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs75861900	chr6:162322912-162322913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76258293	chr6:162322982-162322983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371094628	chr6:162323022-162323023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532008079	chr6:162323037-162323038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552188853	chr6:162323038-162323039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79814481	chr6:162323039-162323040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184604499	chr6:162323040-162323041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375657096	chr6:162323048-162323049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554434737	chr6:162323064-162323065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114318311	chr6:162323065-162323066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533769500	chr6:162323114-162323115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553650848	chr6:162323144-162323145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186713059	chr6:162323154-162323155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77402498	chr6:162323193-162323194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115871651	chr6:162323199-162323200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545035708	chr6:162323205-162323206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550355318	chr6:162323216-162323217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575619122	chr6:162323225-162323226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73785465	chr6:162323246-162323247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147958693	chr6:162323318-162323319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530294723	chr6:162323328-162323329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540875579	chr6:162323351-162323352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162310000-162327200	Weak transcription	Right Ventricle	heart
2	chr6:162316200-162322600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr6:162318200-162322600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:162322600-162323000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:162322600-162323200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr6:162322800-162323200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:162322800-162323200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:162322800-162323200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:162322800-162323400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:162322800-162323400	Enhancers	Fetal Stomach	stomach
11	chr6:162322800-162323600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:162323000-162323400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr6:162323200-162325800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:162323600-162324200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:162324000-162324200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:162324200-162324400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:162324200-162329800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr6:162324800-162325000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:162325000-162325200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:162325200-162327200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr6:162325800-162326000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:162326000-162329800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr6:162327000-162328200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:162327200-162328200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:162327400-162328000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:162327400-162328200	Enhancers	Primary hematopoietic stem cells	blood
27	chr6:162329800-162330200	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr6:162329800-162330400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:162329800-162330600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr6:162329800-162330800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr6:162330000-162330400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:162330200-162330400	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr6:162330200-162333200	Weak transcription	Psoas Muscle	Psoas
34	chr6:162330400-162331800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:162330400-162338800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:162332200-162332400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:162336200-162343400	Weak transcription	Fetal Heart	heart
38	chr6:162336200-162357200	Weak transcription	Aorta	Aorta
39	chr6:162338600-162338800	Enhancers	NH-A	brain
40	chr6:162338600-162339000	Enhancers	A549	lung
41	chr6:162338600-162339200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr6:162338600-162339200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr6:162338600-162339800	Enhancers	Brain Germinal Matrix	brain
44	chr6:162338800-162339000	Active TSS	Hela-S3	cervix
45	chr6:162338800-162339400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr6:162338800-162340000	Flanking Active TSS	NH-A	brain
47	chr6:162339000-162339400	Flanking Active TSS	A549	lung
48	chr6:162339000-162339400	Flanking Active TSS	Hela-S3	cervix
49	chr6:162339000-162340200	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr6:162339000-162340200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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