Variant report

Variant	nsv481652
Chromosome Location	chr6:162336097-162796635
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:46)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:46 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:162671180..162673472-chr6:162808694..162811227,2	K562	blood:
2	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
3	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
4	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
5	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
6	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
7	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
8	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
9	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
10	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:
11	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
12	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
13	chr6:162643217..162645721-chr6:162646719..162648950,2	K562	blood:
14	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
15	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
16	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
17	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
18	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
19	chr6:162552000..162556573-chr6:162556763..162561114,5	K562	blood:
20	chr6:162661286..162663139-chr6:162673530..162675376,2	K562	blood:
21	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
22	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
23	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
24	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
25	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
26	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
27	chr6:162620407..162622935-chr6:162623040..162625617,2	K562	blood:
28	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
29	chr6:162613600..162615384-chr6:162617227..162618872,2	K562	blood:
30	chr6:162258117..162258784-chr6:162338530..162339165,2	MCF-7	breast:
31	chr6:162666890..162668464-chr6:162670216..162671922,2	K562	blood:
32	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
33	chr6:162372183..162373880-chr6:162375416..162378006,2	K562	blood:
34	chr6:162397480..162399223-chr6:162401761..162404565,2	K562	blood:
35	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
36	chr6:162347118..162349182-chr6:162351860..162355211,3	K562	blood:
37	chr6:162721411..162723925-chr6:162726328..162729326,2	K562	blood:
38	chr6:162553757..162556831-chr6:162558713..162560436,3	K562	blood:
39	chr6:162763017..162765353-chr6:162767098..162769301,2	K562	blood:
40	chr6:162258059..162258779-chr6:162552660..162553528,2	MCF-7	breast:
41	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
42	chr6:162380873..162382939-chr6:162388150..162390123,2	K562	blood:
43	chr6:162400767..162402435-chr6:162406575..162409112,2	K562	blood:
44	chr6:162574333..162576032-chr6:162578404..162580150,2	K562	blood:
45	chr6:162350457..162353351-chr6:162353923..162356207,2	K562	blood:
46	chr6:162768506..162770213-chr6:162786241..162788330,2	K562	blood:

No data

Extended variants
information (count: 17190 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:17190 , 50 per page) page: 1 2 3 4 5 6 7 ... 344

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113090558	chr6:162336099-162336100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200715129	chr6:162336120-162336121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541536140	chr6:162336135-162336136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561865884	chr6:162336146-162336147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554369687	chr6:162336162-162336163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572140242	chr6:162336188-162336189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562223224	chr6:162336195-162336196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112698646	chr6:162336258-162336259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373499134	chr6:162336337-162336338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs9355374	chr6:162336354-162336355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs188444199	chr6:162336371-162336372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193033886	chr6:162336404-162336405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562594210	chr6:162336411-162336412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185570464	chr6:162336447-162336448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189049498	chr6:162336470-162336471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568549834	chr6:162336472-162336473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9364626	chr6:162336491-162336492	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs547605778	chr6:162336500-162336501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570772863	chr6:162336590-162336591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115673987	chr6:162336602-162336603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112441788	chr6:162336615-162336616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367698231	chr6:162336628-162336629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575941495	chr6:162336655-162336656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535476386	chr6:162336664-162336665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541669142	chr6:162336668-162336669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191442292	chr6:162336673-162336674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372905507	chr6:162336711-162336712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572111495	chr6:162336737-162336738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541200799	chr6:162336744-162336745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558000232	chr6:162336750-162336751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577947279	chr6:162336769-162336770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73024528	chr6:162336773-162336774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563621717	chr6:162336801-162336802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531565351	chr6:162336845-162336846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542209478	chr6:162336866-162336867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183578616	chr6:162336875-162336876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150930648	chr6:162336892-162336893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547517116	chr6:162336905-162336906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111544586	chr6:162336915-162336916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570687554	chr6:162336937-162336938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527591872	chr6:162336950-162336951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140793073	chr6:162336979-162336980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377227519	chr6:162337023-162337024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188652854	chr6:162337028-162337029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557630578	chr6:162337063-162337064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368972817	chr6:162337071-162337072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535063126	chr6:162337072-162337073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181266779	chr6:162337094-162337095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115284909	chr6:162337105-162337106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138972809	chr6:162337160-162337161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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	21293372	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
Schizophrenia	19805367	CNVD

Chromatin state (count:1287 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162330400-162338800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:162336200-162343400	Weak transcription	Fetal Heart	heart
3	chr6:162336200-162357200	Weak transcription	Aorta	Aorta
4	chr6:162338600-162338800	Enhancers	NH-A	brain
5	chr6:162338600-162339000	Enhancers	A549	lung
6	chr6:162338600-162339200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:162338600-162339200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:162338600-162339800	Enhancers	Brain Germinal Matrix	brain
9	chr6:162338800-162339000	Active TSS	Hela-S3	cervix
10	chr6:162338800-162339400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:162338800-162340000	Flanking Active TSS	NH-A	brain
12	chr6:162339000-162339400	Flanking Active TSS	A549	lung
13	chr6:162339000-162339400	Flanking Active TSS	Hela-S3	cervix
14	chr6:162339000-162340200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr6:162339000-162340200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:162339000-162340200	Active TSS	Fetal Brain Female	brain
17	chr6:162339200-162339600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr6:162339200-162340200	Active TSS	Brain Angular Gyrus	brain
19	chr6:162339200-162340200	Active TSS	Brain Anterior Caudate	brain
20	chr6:162339200-162340200	Active TSS	Brain Cingulate Gyrus	brain
21	chr6:162339200-162342600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:162339200-162342800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:162339400-162339600	Enhancers	Hela-S3	cervix
24	chr6:162339400-162339800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:162339400-162339800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr6:162339400-162340000	Active TSS	A549	lung
27	chr6:162339400-162340200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr6:162339600-162339800	Flanking Active TSS	Hela-S3	cervix
29	chr6:162339600-162340200	Active TSS	Brain Hippocampus Middle	brain
30	chr6:162339600-162343200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:162339800-162340000	Weak transcription	Ovary	ovary
32	chr6:162339800-162340200	Enhancers	Hela-S3	cervix
33	chr6:162339800-162340600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr6:162339800-162342600	Weak transcription	Brain Germinal Matrix	brain
35	chr6:162339800-162343400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:162340000-162340200	ZNF genes & repeats	Ovary	ovary
37	chr6:162340000-162340200	Flanking Active TSS	A549	lung
38	chr6:162340000-162340200	Enhancers	NH-A	brain
39	chr6:162340200-162342600	Weak transcription	Brain Angular Gyrus	brain
40	chr6:162340200-162342600	Weak transcription	Brain Anterior Caudate	brain
41	chr6:162340200-162342600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr6:162340200-162342600	Weak transcription	Brain Hippocampus Middle	brain
43	chr6:162340200-162342600	Weak transcription	A549	lung
44	chr6:162340200-162342800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:162340200-162343000	Weak transcription	Hela-S3	cervix
46	chr6:162340200-162343000	Weak transcription	NH-A	brain
47	chr6:162340200-162352000	Weak transcription	Ovary	ovary
48	chr6:162340600-162342400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr6:162340800-162341200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr6:162341200-162342400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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