Variant report

Variant	nsv886133
Chromosome Location	chr6:69549897-69610281
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:69581203..69583450-chr6:69585413..69587752,2	K562	blood:
2	chr6:69600061..69602030-chr6:69602130..69604236,2	K562	blood:
3	chr6:69556808..69559307-chr6:69561378..69564071,2	K562	blood:
4	chr6:69552565..69555289-chr6:69558230..69559935,2	K562	blood:
5	chr6:69556808..69559307-chr6:69561378..69564071,2	K562	blood:
6	chr6:69579177..69581252-chr6:69582969..69585312,2	K562	blood:
7	chr6:69589839..69591611-chr6:69597828..69600787,2	K562	blood:
8	chr6:69539548..69541597-chr6:69549180..69550705,2	K562	blood:
9	chr6:69581850..69584680-chr6:69586961..69588959,2	MCF-7	breast:
10	chr6:69581850..69584680-chr6:69586961..69588959,2	MCF-7	breast:
11	chr6:69552565..69555289-chr6:69558230..69559935,2	K562	blood:
12	chr6:69586533..69588102-chr6:69667960..69668799,9	MCF-7	breast:
13	chr6:69586886..69587416-chr6:70818041..70818795,2	MCF-7	breast:
14	chr6:69549740..69550662-chr6:69865141..69865963,2	MCF-7	breast:
15	chr6:69540097..69542274-chr6:69548861..69550705,2	K562	blood:
16	chr6:69600022..69602620-chr6:69612742..69614990,2	K562	blood:
17	chr6:69579177..69581252-chr6:69582969..69585312,2	K562	blood:
18	chr6:69585748..69588195-chr6:69590931..69592487,2	K562	blood:
19	chr6:69602185..69604061-chr6:69605496..69607741,2	K562	blood:
20	chr6:69589839..69591611-chr6:69597828..69600787,2	K562	blood:
21	chr6:69604221..69606284-chr6:69610913..69612679,2	K562	blood:
22	chr6:69587193..69588031-chr6:69865072..69865822,2	MCF-7	breast:
23	chr6:69600061..69602030-chr6:69602130..69604236,2	K562	blood:
24	chr6:69602185..69604061-chr6:69605496..69607741,2	K562	blood:
25	chr6:69585748..69588195-chr6:69590931..69592487,2	K562	blood:
26	chr6:69581203..69583450-chr6:69585413..69587752,2	K562	blood:

No data

Extended variants
information (count: 2205 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2205 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs493768	chr6:69549897-69549898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142574834	chr6:69549899-69549900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116197982	chr6:69549914-69549915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191312912	chr6:69549925-69549926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs66779956	chr6:69549928-69549929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184228960	chr6:69549948-69549949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs538707581	chr6:69549949-69549950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs57259218	chr6:69549995-69549996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542168813	chr6:69550012-69550013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59135358	chr6:69550017-69550018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544460157	chr6:69550031-69550032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189487396	chr6:69550075-69550076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs486413	chr6:69550082-69550083	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs75472594	chr6:69550083-69550084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532495514	chr6:69550087-69550088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552235305	chr6:69550089-69550090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115376576	chr6:69550093-69550094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534670462	chr6:69550094-69550095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140821180	chr6:69550123-69550124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561060554	chr6:69550135-69550136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537745943	chr6:69550136-69550137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59728625	chr6:69550141-69550142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111722929	chr6:69550180-69550181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13218065	chr6:69550181-69550182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs487408	chr6:69550199-69550200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577354257	chr6:69550213-69550214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs487492	chr6:69550227-69550228	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs553077410	chr6:69550238-69550239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368163456	chr6:69550242-69550243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572881228	chr6:69550248-69550249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540249228	chr6:69550305-69550306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148721485	chr6:69550315-69550316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146756266	chr6:69550316-69550317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138765184	chr6:69550317-69550318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544470630	chr6:69550407-69550408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73458284	chr6:69550423-69550424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs77269931	chr6:69550487-69550488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114272271	chr6:69550520-69550521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116422063	chr6:69550553-69550554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200569732	chr6:69550578-69550579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201661983	chr6:69550580-69550581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368069320	chr6:69550581-69550582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528476001	chr6:69550594-69550595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530149450	chr6:69550601-69550602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199665832	chr6:69550604-69550605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186715344	chr6:69550607-69550608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57052111	chr6:69550660-69550661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs491998	chr6:69550688-69550689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs62418573	chr6:69550695-69550696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs492229	chr6:69550764-69550765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

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
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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
Ependymoma	16718352	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
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69546600-69550800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:69554400-69556600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
3	chr6:69556200-69557400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:69556600-69562400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:69557400-69566800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:69558200-69558600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr6:69558200-69558800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:69558200-69559000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:69562200-69564200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:69562400-69562800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:69562400-69563000	Enhancers	Brain Anterior Caudate	brain
12	chr6:69562400-69564800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:69562800-69563000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr6:69562800-69563000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr6:69562800-69566200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:69563000-69563600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr6:69563000-69564000	Weak transcription	Brain Anterior Caudate	brain
18	chr6:69563600-69564200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr6:69563800-69564000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:69564000-69564200	Enhancers	Brain Anterior Caudate	brain
21	chr6:69564000-69567200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:69564200-69569000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr6:69564600-69565000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr6:69564800-69567600	Weak transcription	Fetal Lung	lung
25	chr6:69566200-69569800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr6:69566800-69567200	ZNF genes & repeats	Fetal Stomach	stomach
27	chr6:69566800-69567400	Enhancers	Liver	Liver
28	chr6:69566800-69570400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:69567200-69567400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:69567400-69571000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr6:69567600-69569600	ZNF genes & repeats	Fetal Lung	lung
32	chr6:69568600-69571200	ZNF genes & repeats	Fetal Brain Female	brain
33	chr6:69569000-69569400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
34	chr6:69569600-69575400	Weak transcription	Fetal Lung	lung
35	chr6:69569800-69574600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:69570400-69574200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:69571200-69572200	Weak transcription	Fetal Brain Female	brain
38	chr6:69574600-69578000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr6:69574800-69575200	Weak transcription	Fetal Brain Female	brain
40	chr6:69575000-69577800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:69575400-69576000	Strong transcription	Fetal Lung	lung
42	chr6:69576000-69576200	ZNF genes & repeats	Fetal Lung	lung
43	chr6:69577000-69577200	ZNF genes & repeats	Brain Germinal Matrix	brain
44	chr6:69577000-69577400	ZNF genes & repeats	Brain Hippocampus Middle	brain
45	chr6:69577000-69577600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:69578600-69579000	Enhancers	Fetal Brain Male	brain
47	chr6:69581800-69583000	Enhancers	Fetal Lung	lung
48	chr6:69586400-69586600	Enhancers	Brain Angular Gyrus	brain
49	chr6:69586400-69586600	Enhancers	Brain Cingulate Gyrus	brain
50	chr6:69586600-69587400	Weak transcription	Brain Cingulate Gyrus	brain

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