Variant report

Variant	nsv970303
Chromosome Location	chr6:81050335-81062570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:81051052-81051360	IMR90	lung:	n/a	chr6:81051065-81051076
2	CHD2	chr6:81052649-81052770	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr6:81058000-81058150	NHDF-neo	bronchial:	n/a	n/a
4	FOXA1	chr6:81058029-81058261	T-47D	breast:	n/a	n/a
5	FOXA2	chr6:81058021-81058220	HepG2	liver:	n/a	n/a
6	JUN	chr6:81053075-81053115	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAFK	chr6:81051078-81051449	IMR90	lung:	n/a	n/a
8	MAFK	chr6:81052660-81052730	HepG2	liver:	n/a	n/a
9	MAFK	chr6:81052504-81052666	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr6:81058059-81058244	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr6:81057981-81058271	MCF10A-Er-Src	breast:	n/a	n/a
12	NFIC	chr6:81060874-81061456	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr6:81051406-81051606	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr6:81061154-81061182	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr6:81060721-81060787	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr6:81052507-81052568	MCF10A-Er-Src	breast:	n/a	n/a
17	RAD21	chr6:81051078-81051480	IMR90	lung:	n/a	n/a
18	RCOR1	chr6:81050908-81051608	IMR90	lung:	n/a	n/a
19	STAT3	chr6:81050996-81051197	MCF10A-Er-Src	breast:	n/a	n/a
20	TCF12	chr6:81053217-81053631	SK-N-SH	brain:	n/a	n/a
21	TCF12	chr6:81057873-81058453	SK-N-SH	brain:	n/a	n/a
22	WRNIP1	chr6:81052379-81052579	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:81048632..81050136-chr6:81059450..81061569,2	K562	blood:
2	chr6:81032325..81034991-chr6:81050067..81051684,2	K562	blood:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	BCKDHB	hsa-miR-1	chr6:81054571-81054592
2	BCKDHB	hsa-miR-1	chr6:81055812-81055831

Variant related genes	Relation type
ENSG00000272129	TF binding region
BCKDHB	TF binding region

Extended variants
information (count: 516 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:516 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183034433	chr6:81050338-81050339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117352664	chr6:81050377-81050378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116097586	chr6:81050391-81050392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141584246	chr6:81050394-81050395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1883975	chr6:81050414-81050415	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs575491730	chr6:81050438-81050439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573598033	chr6:81050460-81050461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542631003	chr6:81050465-81050466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77155281	chr6:81050482-81050483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543851880	chr6:81050488-81050489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs63655760	chr6:81050489-81050490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560119590	chr6:81050490-81050491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572644964	chr6:81050527-81050528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568813510	chr6:81050531-81050532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536119015	chr6:81050532-81050533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149977781	chr6:81050561-81050562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6454152	chr6:81050698-81050699	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs550842462	chr6:81050718-81050719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567739653	chr6:81050735-81050736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs536284068	chr6:81050747-81050748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201684362	chr6:81050812-81050813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200082737	chr6:81050814-81050815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs3828745	chr6:81050815-81050816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs201263251	chr6:81050820-81050821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs80085074	chr6:81050821-81050822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs557583908	chr6:81050829-81050830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145263537	chr6:81050883-81050884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3805856	chr6:81050903-81050904	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs576437633	chr6:81050928-81050929	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs947223	chr6:81050936-81050937	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs556816675	chr6:81050947-81050948	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs573253399	chr6:81050997-81050998	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs2322757	chr6:81051088-81051089	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs562395437	chr6:81051120-81051121	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs77941972	chr6:81051121-81051122	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs187736001	chr6:81051147-81051148	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs192401240	chr6:81051171-81051172	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs565567427	chr6:81051213-81051214	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs2322758	chr6:81051227-81051228	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs540879130	chr6:81051243-81051244	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs1984242	chr6:81051245-81051246	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs561251406	chr6:81051253-81051254	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs530155583	chr6:81051261-81051262	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs2322759	chr6:81051364-81051365	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs73751603	chr6:81051442-81051443	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs2322760	chr6:81051469-81051470	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs551305618	chr6:81051495-81051496	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs3805852	chr6:81051528-81051529	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs143556476	chr6:81051552-81051553	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs557143849	chr6:81051592-81051593	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81005200-81056200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:81029400-81079600	Weak transcription	HSMM	muscle
3	chr6:81033800-81070200	Weak transcription	Left Ventricle	heart
4	chr6:81042200-81056400	Weak transcription	Fetal Heart	heart
5	chr6:81045200-81051000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:81045600-81051200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr6:81045800-81052600	Weak transcription	Osteobl	bone
8	chr6:81046600-81050400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:81046800-81051400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:81047000-81051200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr6:81048200-81058000	Weak transcription	Psoas Muscle	Psoas
12	chr6:81048200-81066800	Weak transcription	Pancreas	Pancrea
13	chr6:81048400-81064200	Weak transcription	Liver	Liver
14	chr6:81049200-81052000	Enhancers	Fetal Stomach	stomach
15	chr6:81050200-81051800	Enhancers	Fetal Kidney	kidney
16	chr6:81050400-81050600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:81050400-81071200	Weak transcription	Primary T cells from cord blood	blood
18	chr6:81050600-81051000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:81051000-81051200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:81051000-81051400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:81051000-81051600	Enhancers	NH-A	brain
22	chr6:81051000-81051800	Enhancers	NHLF	lung
23	chr6:81051200-81051800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:81051200-81052000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:81051200-81052600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr6:81051400-81051600	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr6:81051600-81053400	Weak transcription	NH-A	brain
28	chr6:81051600-81059200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr6:81051800-81056000	Weak transcription	Fetal Kidney	kidney
30	chr6:81051800-81056800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:81052000-81052400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:81052400-81053600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:81052600-81053000	Enhancers	Osteobl	bone
34	chr6:81052600-81053600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:81053400-81053600	Enhancers	NH-A	brain
36	chr6:81053600-81073800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:81055200-81055400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr6:81055400-81056200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr6:81056200-81057200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr6:81056400-81057200	Enhancers	Fetal Lung	lung
41	chr6:81056400-81057400	Enhancers	Fetal Heart	heart
42	chr6:81056800-81058400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:81057000-81057200	Enhancers	Aorta	Aorta
44	chr6:81057200-81058000	Weak transcription	Aorta	Aorta
45	chr6:81057200-81067200	Weak transcription	Fetal Lung	lung
46	chr6:81057400-81063600	Weak transcription	Fetal Heart	heart
47	chr6:81058000-81058400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr6:81058000-81058400	Enhancers	Aorta	Aorta
49	chr6:81058000-81058400	Enhancers	Psoas Muscle	Psoas
50	chr6:81058400-81067000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links