Variant report

Variant	nsv525646
Chromosome Location	chr6:80637239-80640847
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:80637410..80640151-chr6:80643092..80644970,2	K562	blood:
2	chr6:80637867..80639718-chr6:80655961..80657818,2	K562	blood:
3	chr6:80638236..80641054-chr6:80645863..80647445,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTK-3	chr6:80640736-80641046	NONHSAT113717
2	lnc-TTK-3	chr6:80638309-80638322	NONHSAT113717

Variant related genes	Relation type
ENSG00000118402	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs343630	chr6:80637239-80637240	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554239113	chr6:80637250-80637251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs574232587	chr6:80637264-80637265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533528694	chr6:80637290-80637291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563314826	chr6:80637309-80637310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6928446	chr6:80637310-80637311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs35719863	chr6:80637315-80637316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375161203	chr6:80637339-80637340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546140421	chr6:80637346-80637347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149186817	chr6:80637414-80637415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146772509	chr6:80637498-80637499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35295710	chr6:80637499-80637500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115369330	chr6:80637535-80637536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145123095	chr6:80637538-80637539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368159840	chr6:80637626-80637627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562150422	chr6:80637632-80637633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527817356	chr6:80637670-80637671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76865416	chr6:80637736-80637737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564292092	chr6:80637758-80637759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549105006	chr6:80637808-80637809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116520168	chr6:80637815-80637816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74358494	chr6:80637840-80637841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552138511	chr6:80637862-80637863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534700791	chr6:80637930-80637931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs343631	chr6:80637941-80637942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537639849	chr6:80637952-80637953	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548015600	chr6:80637971-80637972	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs343632	chr6:80638065-80638066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187727894	chr6:80638075-80638076	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs192245814	chr6:80638081-80638082	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs139012109	chr6:80638120-80638121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148483249	chr6:80638131-80638132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs115543767	chr6:80638140-80638141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs343633	chr6:80638143-80638144	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs570524106	chr6:80638145-80638146	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576844828	chr6:80638158-80638159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542422001	chr6:80638225-80638226	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555971539	chr6:80638227-80638228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs572697855	chr6:80638231-80638232	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs80246554	chr6:80638233-80638234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564605362	chr6:80638316-80638317	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs182491960	chr6:80638330-80638331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs343634	chr6:80638343-80638344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs13201038	chr6:80638353-80638354	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187868786	chr6:80638417-80638418	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs116111139	chr6:80638432-80638433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35319455	chr6:80638444-80638445	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs566081725	chr6:80638459-80638460	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs34673896	chr6:80638472-80638473	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs142286184	chr6:80638487-80638488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Breast cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80618400-80656000	Weak transcription	Aorta	Aorta
2	chr6:80622000-80643800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:80622000-80644200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:80622600-80639600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:80623400-80639000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:80624000-80643000	Weak transcription	NHDF-Ad	bronchial
7	chr6:80624400-80637800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr6:80628600-80638600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:80629200-80639800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:80630800-80639800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:80630800-80639800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:80631000-80653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:80631600-80638600	Weak transcription	Thymus	Thymus
14	chr6:80632000-80637400	Weak transcription	Primary T cells from cord blood	blood
15	chr6:80632000-80654800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:80633000-80639600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:80633000-80646400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr6:80634600-80637600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr6:80634800-80651000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:80635600-80638000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr6:80636600-80638600	Weak transcription	Fetal Thymus	thymus
22	chr6:80636800-80637800	Weak transcription	Dnd41	blood
23	chr6:80637200-80638000	Enhancers	Fetal Intestine Large	intestine
24	chr6:80637200-80638200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:80637400-80638800	Enhancers	Primary T cells from cord blood	blood
26	chr6:80637600-80637800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr6:80637600-80638200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:80637800-80638200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:80637800-80638200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr6:80637800-80638400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:80637800-80641600	Enhancers	Dnd41	blood
32	chr6:80638000-80638200	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr6:80638000-80638400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr6:80638200-80638400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr6:80638400-80639800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:80638400-80651000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:80638600-80638800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:80638600-80639200	Genic enhancers	Thymus	Thymus
39	chr6:80638600-80639400	Enhancers	Fetal Thymus	thymus
40	chr6:80638800-80653000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:80639000-80640200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr6:80639200-80642400	Weak transcription	Thymus	Thymus
43	chr6:80639400-80643200	Weak transcription	Fetal Thymus	thymus
44	chr6:80639600-80640400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr6:80639600-80640400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr6:80639800-80640200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:80639800-80640200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:80639800-80640200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr6:80639800-80640400	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:80639800-80640400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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