Variant report

Variant	nsv886136
Chromosome Location	chr6:69598297-69654650
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:69589839..69591611-chr6:69597828..69600787,2	K562	blood:
2	chr6:69626389..69628676-chr6:69629021..69631728,2	K562	blood:
3	chr6:69631911..69634740-chr6:69647956..69650887,2	K562	blood:
4	chr6:69602185..69604061-chr6:69605496..69607741,2	K562	blood:
5	chr6:69651490..69654274-chr6:69657804..69660488,2	K562	blood:
6	chr6:69600022..69602620-chr6:69612742..69614990,2	K562	blood:
7	chr6:69600061..69602030-chr6:69602130..69604236,2	K562	blood:
8	chr6:69648515..69651430-chr6:69656581..69658381,2	K562	blood:
9	chr6:69631911..69634740-chr6:69647956..69650887,2	K562	blood:
10	chr6:69600022..69602620-chr6:69612742..69614990,2	K562	blood:
11	chr6:69600061..69602030-chr6:69602130..69604236,2	K562	blood:
12	chr6:69642283..69645074-chr6:69645597..69647521,2	K562	blood:
13	chr6:69604221..69606284-chr6:69610913..69612679,2	K562	blood:
14	chr6:69602185..69604061-chr6:69605496..69607741,2	K562	blood:
15	chr6:69626389..69628676-chr6:69629021..69631728,2	K562	blood:
16	chr6:69642283..69645074-chr6:69645597..69647521,2	K562	blood:
17	chr6:69604221..69606284-chr6:69610913..69612679,2	K562	blood:

No data

Extended variants
information (count: 1460 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1460 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1403926	chr6:69598297-69598298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187809389	chr6:69598356-69598357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11966435	chr6:69598434-69598435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34825137	chr6:69598435-69598436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146725662	chr6:69598454-69598455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs3036624	chr6:69598467-69598468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545708487	chr6:69598507-69598508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560755583	chr6:69598513-69598514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139824238	chr6:69598534-69598535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543358335	chr6:69598540-69598541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373658461	chr6:69598571-69598572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563231244	chr6:69598617-69598618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1283949	chr6:69598684-69598685	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551904300	chr6:69598770-69598771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565397540	chr6:69598834-69598835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191607227	chr6:69598874-69598875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556525429	chr6:69598904-69598905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183751369	chr6:69598935-69598936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs562091053	chr6:69598940-69598941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115221326	chr6:69598983-69598984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529253059	chr6:69599025-69599026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79616587	chr6:69599051-69599052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565376884	chr6:69599094-69599095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367999668	chr6:69599103-69599104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534066161	chr6:69599105-69599106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539238054	chr6:69599113-69599114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74894487	chr6:69599118-69599119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559166437	chr6:69599121-69599122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572185532	chr6:69599124-69599125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371580796	chr6:69599165-69599166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186637492	chr6:69599195-69599196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192922310	chr6:69599235-69599236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149811879	chr6:69599241-69599242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184643455	chr6:69599293-69599294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190310764	chr6:69599315-69599316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150710780	chr6:69599378-69599379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140329446	chr6:69599400-69599401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370034863	chr6:69599401-69599402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79356424	chr6:69599411-69599412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs397752775	chr6:69599412-69599413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181685111	chr6:69599430-69599431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184790391	chr6:69599437-69599438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545606788	chr6:69599438-69599439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559321598	chr6:69599446-69599447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145817007	chr6:69599462-69599463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371828093	chr6:69599473-69599474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541214560	chr6:69599481-69599482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376486796	chr6:69599520-69599521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530126917	chr6:69599530-69599531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140703885	chr6:69599544-69599545	Weak transcription	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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69590600-69600600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr6:69591600-69602400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:69592800-69600000	Weak transcription	Fetal Lung	lung
4	chr6:69594000-69600800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:69600000-69601000	Strong transcription	Fetal Lung	lung
6	chr6:69600600-69600800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr6:69600800-69601200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:69600800-69601200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:69600800-69601600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:69601000-69602200	Weak transcription	Fetal Lung	lung
11	chr6:69601200-69602000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:69601200-69609400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:69601400-69601800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:69601600-69610200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:69601800-69603800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:69602000-69604200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:69602200-69602800	Enhancers	Fetal Lung	lung
18	chr6:69602800-69621000	Weak transcription	Fetal Lung	lung
19	chr6:69610400-69611400	Enhancers	K562	blood
20	chr6:69621200-69622000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:69621400-69621800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:69632000-69632800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr6:69632200-69632600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr6:69632200-69632800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr6:69632200-69632800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:69632200-69633000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr6:69632400-69632800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr6:69632400-69633000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:69643200-69646800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr6:69644000-69653600	Weak transcription	Brain Substantia Nigra	brain
31	chr6:69644000-69653800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:69644600-69665800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr6:69645200-69653600	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:69645200-69661200	Weak transcription	Left Ventricle	heart
35	chr6:69645600-69679000	Weak transcription	Fetal Brain Female	brain
36	chr6:69646000-69685000	Weak transcription	Fetal Lung	lung
37	chr6:69646200-69677200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr6:69646400-69646600	ZNF genes & repeats	Aorta	Aorta
39	chr6:69646600-69647400	Weak transcription	Aorta	Aorta
40	chr6:69646800-69647000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr6:69647000-69647400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr6:69647200-69647600	Enhancers	Brain Anterior Caudate	brain
43	chr6:69647200-69647600	Enhancers	Brain Cingulate Gyrus	brain
44	chr6:69647400-69647600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr6:69647400-69647600	Enhancers	Aorta	Aorta
46	chr6:69647600-69659200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:69647600-69659200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr6:69647600-69677800	Weak transcription	Brain Anterior Caudate	brain
49	chr6:69652200-69684600	Weak transcription	Brain Angular Gyrus	brain
50	chr6:69652600-69658000	Weak transcription	Fetal Intestine Small	intestine

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