Variant report

Variant	nsv886134
Chromosome Location	chr6:69571053-69605682
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:69581203..69583450-chr6:69585413..69587752,2	K562	blood:
2	chr6:69581850..69584680-chr6:69586961..69588959,2	MCF-7	breast:
3	chr6:69600022..69602620-chr6:69612742..69614990,2	K562	blood:
4	chr6:69585748..69588195-chr6:69590931..69592487,2	K562	blood:
5	chr6:69602185..69604061-chr6:69605496..69607741,2	K562	blood:
6	chr6:69587193..69588031-chr6:69865072..69865822,2	MCF-7	breast:
7	chr6:69581203..69583450-chr6:69585413..69587752,2	K562	blood:
8	chr6:69585748..69588195-chr6:69590931..69592487,2	K562	blood:
9	chr6:69600061..69602030-chr6:69602130..69604236,2	K562	blood:
10	chr6:69600061..69602030-chr6:69602130..69604236,2	K562	blood:
11	chr6:69602185..69604061-chr6:69605496..69607741,2	K562	blood:
12	chr6:69604221..69606284-chr6:69610913..69612679,2	K562	blood:
13	chr6:69589839..69591611-chr6:69597828..69600787,2	K562	blood:
14	chr6:69579177..69581252-chr6:69582969..69585312,2	K562	blood:
15	chr6:69579177..69581252-chr6:69582969..69585312,2	K562	blood:
16	chr6:69586886..69587416-chr6:70818041..70818795,2	MCF-7	breast:
17	chr6:69586533..69588102-chr6:69667960..69668799,9	MCF-7	breast:
18	chr6:69589839..69591611-chr6:69597828..69600787,2	K562	blood:
19	chr6:69581850..69584680-chr6:69586961..69588959,2	MCF-7	breast:

No data

Extended variants
information (count: 1245 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:1245 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6455306	chr6:69571053-69571054	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542974170	chr6:69571148-69571149	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs111718382	chr6:69571152-69571153	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs561152492	chr6:69571194-69571195	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs181416737	chr6:69571250-69571251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554944781	chr6:69571260-69571261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6936651	chr6:69571269-69571270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs200604087	chr6:69571281-69571282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546301205	chr6:69571286-69571287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146971790	chr6:69571288-69571289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184816648	chr6:69571304-69571305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576499338	chr6:69571310-69571311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62416369	chr6:69571311-69571312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527927219	chr6:69571314-69571315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372379717	chr6:69571315-69571316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565271484	chr6:69571323-69571324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189238979	chr6:69571346-69571347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530310674	chr6:69571347-69571348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550363859	chr6:69571352-69571353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570121062	chr6:69571362-69571363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538740111	chr6:69571376-69571377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552260727	chr6:69571378-69571379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565771203	chr6:69571408-69571409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534652468	chr6:69571409-69571410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181015658	chr6:69571411-69571412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569378048	chr6:69571434-69571435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12529949	chr6:69571441-69571442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375570598	chr6:69571454-69571455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530244	chr6:69571461-69571462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs557143716	chr6:69571465-69571466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143698669	chr6:69571479-69571480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7771687	chr6:69571486-69571487	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs548337924	chr6:69571497-69571498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185117231	chr6:69571575-69571576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566844055	chr6:69571600-69571601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190597252	chr6:69571608-69571609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530308187	chr6:69571632-69571633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181484574	chr6:69571685-69571686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549389174	chr6:69571751-69571752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561089735	chr6:69571807-69571808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533890	chr6:69571827-69571828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs538366134	chr6:69571858-69571859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543709196	chr6:69571862-69571863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558687238	chr6:69571892-69571893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532794683	chr6:69571893-69571894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77367341	chr6:69571927-69571928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565809645	chr6:69571931-69571932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186218408	chr6:69571944-69571945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147215551	chr6:69571955-69571956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570818210	chr6:69572004-69572005	Weak transcription	n/a	n/a	Overlapped CNVs	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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69568600-69571200	ZNF genes & repeats	Fetal Brain Female	brain
2	chr6:69569600-69575400	Weak transcription	Fetal Lung	lung
3	chr6:69569800-69574600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:69570400-69574200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:69571200-69572200	Weak transcription	Fetal Brain Female	brain
6	chr6:69574600-69578000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr6:69574800-69575200	Weak transcription	Fetal Brain Female	brain
8	chr6:69575000-69577800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:69575400-69576000	Strong transcription	Fetal Lung	lung
10	chr6:69576000-69576200	ZNF genes & repeats	Fetal Lung	lung
11	chr6:69577000-69577200	ZNF genes & repeats	Brain Germinal Matrix	brain
12	chr6:69577000-69577400	ZNF genes & repeats	Brain Hippocampus Middle	brain
13	chr6:69577000-69577600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:69578600-69579000	Enhancers	Fetal Brain Male	brain
15	chr6:69581800-69583000	Enhancers	Fetal Lung	lung
16	chr6:69586400-69586600	Enhancers	Brain Angular Gyrus	brain
17	chr6:69586400-69586600	Enhancers	Brain Cingulate Gyrus	brain
18	chr6:69586600-69587400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:69586600-69591200	Weak transcription	Brain Angular Gyrus	brain
20	chr6:69587200-69587400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:69587400-69587600	Enhancers	Brain Cingulate Gyrus	brain
22	chr6:69587400-69589800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:69587600-69589800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr6:69588800-69589000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:69589000-69590000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:69589400-69590600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr6:69589600-69589800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:69589600-69590400	Enhancers	Brain Substantia Nigra	brain
29	chr6:69589600-69590600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:69589600-69590800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:69589800-69591800	Enhancers	Brain Cingulate Gyrus	brain
32	chr6:69589800-69592800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:69590000-69590200	Enhancers	Brain Hippocampus Middle	brain
34	chr6:69590000-69590200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr6:69590000-69590600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr6:69590000-69590600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr6:69590000-69591600	Enhancers	Brain Anterior Caudate	brain
38	chr6:69590200-69591200	Weak transcription	Brain Hippocampus Middle	brain
39	chr6:69590200-69591200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:69590400-69591600	Weak transcription	Brain Substantia Nigra	brain
41	chr6:69590600-69593200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:69590600-69600600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr6:69590800-69591400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:69591000-69591600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:69591200-69591600	Enhancers	Brain Angular Gyrus	brain
46	chr6:69591200-69591600	Enhancers	Brain Hippocampus Middle	brain
47	chr6:69591200-69591600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr6:69591400-69591600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:69591600-69592000	Enhancers	Brain Substantia Nigra	brain
50	chr6:69591600-69602400	Weak transcription	Brain Inferior Temporal Lobe	brain

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