Variant report

Variant	nsv1033222
Chromosome Location	chr6:162339286-162702832
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:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

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

No data

Extended variants
information (count: 13326 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:13326 , 50 per page) page: 1 2 3 4 5 6 7 ... 267

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9364628	chr6:162339286-162339287	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112330910	chr6:162339303-162339304	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs144912284	chr6:162339310-162339311	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs544463728	chr6:162339343-162339344	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs373535172	chr6:162339381-162339382	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs186710163	chr6:162339419-162339420	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs370310200	chr6:162339445-162339446	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs549998052	chr6:162339453-162339454	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112524418	chr6:162339497-162339498	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568821384	chr6:162339519-162339520	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs552058259	chr6:162339565-162339566	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs191119347	chr6:162339592-162339593	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs368927234	chr6:162339657-162339658	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs184779815	chr6:162339668-162339669	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs536327135	chr6:162339676-162339677	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553550897	chr6:162339725-162339726	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs573462727	chr6:162339727-162339728	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs545623940	chr6:162339728-162339729	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs9458418	chr6:162339735-162339736	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs189825166	chr6:162339755-162339756	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs544162907	chr6:162339760-162339761	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs560707650	chr6:162339786-162339787	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs12111147	chr6:162339793-162339794	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs570372752	chr6:162339801-162339802	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs529725355	chr6:162339808-162339809	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs143091609	chr6:162339810-162339811	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs565031197	chr6:162339813-162339814	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs181875300	chr6:162339819-162339820	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs532135738	chr6:162339915-162339916	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs551957727	chr6:162339926-162339927	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs185211120	chr6:162339944-162339945	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs569107112	chr6:162339947-162339948	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs531489214	chr6:162339972-162339973	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs548491219	chr6:162340034-162340035	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs563062334	chr6:162340166-162340167	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs372947655	chr6:162340200-162340201	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs114780503	chr6:162340212-162340213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566972740	chr6:162340230-162340231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539205318	chr6:162340262-162340263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533148538	chr6:162340327-162340328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs532349247	chr6:162340353-162340354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377533251	chr6:162340385-162340386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575831182	chr6:162340399-162340400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs537782929	chr6:162340411-162340412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538137623	chr6:162340449-162340450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73024539	chr6:162340474-162340475	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574342400	chr6:162340496-162340497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565850630	chr6:162340512-162340513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146681999	chr6:162340517-162340518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576553119	chr6:162340528-162340529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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

Chromatin state (count:1010 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162336200-162343400	Weak transcription	Fetal Heart	heart
2	chr6:162336200-162357200	Weak transcription	Aorta	Aorta
3	chr6:162338600-162339800	Enhancers	Brain Germinal Matrix	brain
4	chr6:162338800-162339400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:162338800-162340000	Flanking Active TSS	NH-A	brain
6	chr6:162339000-162339400	Flanking Active TSS	A549	lung
7	chr6:162339000-162339400	Flanking Active TSS	Hela-S3	cervix
8	chr6:162339000-162340200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr6:162339000-162340200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:162339000-162340200	Active TSS	Fetal Brain Female	brain
11	chr6:162339200-162339600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr6:162339200-162340200	Active TSS	Brain Angular Gyrus	brain
13	chr6:162339200-162340200	Active TSS	Brain Anterior Caudate	brain
14	chr6:162339200-162340200	Active TSS	Brain Cingulate Gyrus	brain
15	chr6:162339200-162342600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:162339200-162342800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:162339400-162339600	Enhancers	Hela-S3	cervix
18	chr6:162339400-162339800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:162339400-162339800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr6:162339400-162340000	Active TSS	A549	lung
21	chr6:162339400-162340200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:162339600-162339800	Flanking Active TSS	Hela-S3	cervix
23	chr6:162339600-162340200	Active TSS	Brain Hippocampus Middle	brain
24	chr6:162339600-162343200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:162339800-162340000	Weak transcription	Ovary	ovary
26	chr6:162339800-162340200	Enhancers	Hela-S3	cervix
27	chr6:162339800-162340600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr6:162339800-162342600	Weak transcription	Brain Germinal Matrix	brain
29	chr6:162339800-162343400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:162340000-162340200	ZNF genes & repeats	Ovary	ovary
31	chr6:162340000-162340200	Flanking Active TSS	A549	lung
32	chr6:162340000-162340200	Enhancers	NH-A	brain
33	chr6:162340200-162342600	Weak transcription	Brain Angular Gyrus	brain
34	chr6:162340200-162342600	Weak transcription	Brain Anterior Caudate	brain
35	chr6:162340200-162342600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:162340200-162342600	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:162340200-162342600	Weak transcription	A549	lung
38	chr6:162340200-162342800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr6:162340200-162343000	Weak transcription	Hela-S3	cervix
40	chr6:162340200-162343000	Weak transcription	NH-A	brain
41	chr6:162340200-162352000	Weak transcription	Ovary	ovary
42	chr6:162340600-162342400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr6:162340800-162341200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:162341200-162342400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:162342400-162343600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr6:162342600-162342800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:162342600-162343000	Enhancers	Brain Anterior Caudate	brain
48	chr6:162342600-162343000	Enhancers	Brain Germinal Matrix	brain
49	chr6:162342600-162343200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:162342600-162343200	Enhancers	Brain Angular Gyrus	brain

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