Variant report

Variant	nsv470831
Chromosome Location	chr6:69581991-69654650
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:69648515..69651430-chr6:69656581..69658381,2	K562	blood:
2	chr6:69604221..69606284-chr6:69610913..69612679,2	K562	blood:
3	chr6:69586533..69588102-chr6:69667960..69668799,9	MCF-7	breast:
4	chr6:69604221..69606284-chr6:69610913..69612679,2	K562	blood:
5	chr6:69581850..69584680-chr6:69586961..69588959,2	MCF-7	breast:
6	chr6:69581203..69583450-chr6:69585413..69587752,2	K562	blood:
7	chr6:69651490..69654274-chr6:69657804..69660488,2	K562	blood:
8	chr6:69631911..69634740-chr6:69647956..69650887,2	K562	blood:
9	chr6:69579177..69581252-chr6:69582969..69585312,2	K562	blood:
10	chr6:69600022..69602620-chr6:69612742..69614990,2	K562	blood:
11	chr6:69602185..69604061-chr6:69605496..69607741,2	K562	blood:
12	chr6:69589839..69591611-chr6:69597828..69600787,2	K562	blood:
13	chr6:69586886..69587416-chr6:70818041..70818795,2	MCF-7	breast:
14	chr6:69626389..69628676-chr6:69629021..69631728,2	K562	blood:
15	chr6:69626389..69628676-chr6:69629021..69631728,2	K562	blood:
16	chr6:69642283..69645074-chr6:69645597..69647521,2	K562	blood:
17	chr6:69581850..69584680-chr6:69586961..69588959,2	MCF-7	breast:
18	chr6:69585748..69588195-chr6:69590931..69592487,2	K562	blood:
19	chr6:69600022..69602620-chr6:69612742..69614990,2	K562	blood:
20	chr6:69589839..69591611-chr6:69597828..69600787,2	K562	blood:
21	chr6:69600061..69602030-chr6:69602130..69604236,2	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	chr6:69631911..69634740-chr6:69647956..69650887,2	K562	blood:
26	chr6:69581203..69583450-chr6:69585413..69587752,2	K562	blood:
27	chr6:69642283..69645074-chr6:69645597..69647521,2	K562	blood:
28	chr6:69585748..69588195-chr6:69590931..69592487,2	K562	blood:

No data

Extended variants
information (count: 2070 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2070 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551216	chr6:69581991-69581992	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548113631	chr6:69581999-69582000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35616360	chr6:69582030-69582031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565703392	chr6:69582046-69582047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567988910	chr6:69582062-69582063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527965919	chr6:69582086-69582087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369666696	chr6:69582118-69582119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148122080	chr6:69582132-69582133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550349903	chr6:69582135-69582136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191152282	chr6:69582140-69582141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111958934	chr6:69582142-69582143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79986423	chr6:69582202-69582203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563817	chr6:69582205-69582206	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs9363972	chr6:69582263-69582264	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34723574	chr6:69582287-69582288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183121256	chr6:69582291-69582292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555349155	chr6:69582322-69582323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370856377	chr6:69582326-69582327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575200673	chr6:69582345-69582346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372600386	chr6:69582379-69582380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs188400035	chr6:69582429-69582430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191712148	chr6:69582438-69582439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576885728	chr6:69582460-69582461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556034680	chr6:69582461-69582462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545848891	chr6:69582469-69582470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574280438	chr6:69582512-69582513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566537	chr6:69582525-69582526	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs577894	chr6:69582622-69582623	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs541418747	chr6:69582624-69582625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375074835	chr6:69582648-69582649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183933497	chr6:69582700-69582701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs36096419	chr6:69582710-69582711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530674528	chr6:69582720-69582721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6925795	chr6:69582735-69582736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373528707	chr6:69582788-69582789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570593796	chr6:69582802-69582803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs579588	chr6:69582816-69582817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552670903	chr6:69582819-69582820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150668612	chr6:69582826-69582827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545096532	chr6:69582850-69582851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140984824	chr6:69582893-69582894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554963353	chr6:69582896-69582897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570276	chr6:69582910-69582911	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs537711325	chr6:69582915-69582916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557286462	chr6:69582922-69582923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577401683	chr6:69582959-69582960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143334150	chr6:69582981-69582982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187825937	chr6:69582982-69582983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77516291	chr6:69586405-69586406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571314735	chr6:69586415-69586416	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69581800-69583000	Enhancers	Fetal Lung	lung
2	chr6:69586400-69586600	Enhancers	Brain Angular Gyrus	brain
3	chr6:69586400-69586600	Enhancers	Brain Cingulate Gyrus	brain
4	chr6:69586600-69587400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:69586600-69591200	Weak transcription	Brain Angular Gyrus	brain
6	chr6:69587200-69587400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:69587400-69587600	Enhancers	Brain Cingulate Gyrus	brain
8	chr6:69587400-69589800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:69587600-69589800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:69588800-69589000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:69589000-69590000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:69589400-69590600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:69589600-69589800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:69589600-69590400	Enhancers	Brain Substantia Nigra	brain
15	chr6:69589600-69590600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:69589600-69590800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:69589800-69591800	Enhancers	Brain Cingulate Gyrus	brain
18	chr6:69589800-69592800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:69590000-69590200	Enhancers	Brain Hippocampus Middle	brain
20	chr6:69590000-69590200	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr6:69590000-69590600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:69590000-69590600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:69590000-69591600	Enhancers	Brain Anterior Caudate	brain
24	chr6:69590200-69591200	Weak transcription	Brain Hippocampus Middle	brain
25	chr6:69590200-69591200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr6:69590400-69591600	Weak transcription	Brain Substantia Nigra	brain
27	chr6:69590600-69593200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:69590600-69600600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr6:69590800-69591400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:69591000-69591600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:69591200-69591600	Enhancers	Brain Angular Gyrus	brain
32	chr6:69591200-69591600	Enhancers	Brain Hippocampus Middle	brain
33	chr6:69591200-69591600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr6:69591400-69591600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:69591600-69592000	Enhancers	Brain Substantia Nigra	brain
36	chr6:69591600-69602400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr6:69592000-69594600	Weak transcription	Fetal Brain Female	brain
38	chr6:69592800-69600000	Weak transcription	Fetal Lung	lung
39	chr6:69593200-69594000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:69593600-69593800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:69594000-69600800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:69594400-69594800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:69600000-69601000	Strong transcription	Fetal Lung	lung
44	chr6:69600600-69600800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
45	chr6:69600800-69601200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:69600800-69601200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:69600800-69601600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr6:69601000-69602200	Weak transcription	Fetal Lung	lung
49	chr6:69601200-69602000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:69601200-69609400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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