Variant report

Variant	nsv970143
Chromosome Location	chr6:73998606-74001817
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr6:74001410-74002033	HepG2	liver:	n/a	chr6:74001585-74001596
2	CEBPB	chr6:74001470-74002005	A549	lung:	n/a	chr6:74001585-74001596
3	CEBPB	chr6:74001412-74001961	IMR90	lung:	n/a	chr6:74001585-74001596
4	CEBPB	chr6:74001524-74002044	K562	blood:	n/a	chr6:74001585-74001596
5	CTCF	chr6:73999237-73999309	GM10248	blood:	n/a	n/a
6	CTCF	chr6:74001339-74001361	GM10266	blood:	n/a	n/a
7	CTCF	chr6:74000152-74000204	Lung_OC	lung:	n/a	n/a
8	FOS	chr6:74000398-74000424	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr6:74000176-74000617	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr6:74000244-74000401	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr6:74000256-74000353	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr6:74000558-74000714	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr6:74000202-74000996	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr6:73996896-73998925	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr6:74000251-74000414	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	6:74000304-74012200..6:74062967-74076046	GM12878	blood:
2	6:74000304-74012200..6:74160392-74184826	K562	blood:
3	6:74000304-74012200..6:74099986-74112890	H1-hESC	embryonic stem cell:	embryo
4	6:74000304-74012200..6:74078047-74099067	H1-hESC	embryonic stem cell:	embryo
5	chr6:73997793..73999329-chr6:74000981..74003213,2	K562	blood:
6	6:73927031-73938730..6:74000304-74012200	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf221-2	chr6:74000126-74000985	NONHSAT113549
2	lnc-KHDC1-1	chr6:74001721-74001763	NONHSAT113544
3	lnc-C6orf221-2	chr6:74000256-74001137	NONHSAT113543
4	lnc-KHDC1-1	chr6:74001721-74001763	NONHSAT113547
5	lnc-C6orf221-2	chr6:74000256-74001426	NONHSAT113548
6	lnc-C6orf221-2	chr6:74000256-74000889	NONHSAT113540
7	lnc-KHDC1-1	chr6:74001721-74001763	NONHSAT113546

No data

Variant related genes	Relation type
RPSAP41	TF binding region
EIF3EP1	TF binding region
ENSG00000203909	chromatin interactions
ENSG00000203908	chromatin interactions
ENSG00000235174	chromatin interactions
ENSG00000207023	chromatin interactions
ENSG00000135297	chromatin interactions
ENSG00000256980	chromatin interactions
ENSG00000080007	chromatin interactions
ENSG00000238464	chromatin interactions
ENSG00000203907	chromatin interactions
ENSG00000231332	chromatin interactions
ENSG00000234882	chromatin interactions
ENSG00000224221	chromatin interactions
ENSG00000164430	chromatin interactions

Extended variants
information (count: 141 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:141 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150267906	chr6:73998648-73998649	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs115062688	chr6:73998685-73998686	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs536378396	chr6:73998689-73998690	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs373993061	chr6:73998698-73998699	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs554357205	chr6:73998739-73998740	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs573147547	chr6:73998752-73998753	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs534128648	chr6:73998773-73998774	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs558685772	chr6:73998785-73998786	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs575991025	chr6:73998795-73998796	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs577140641	chr6:73998805-73998806	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs552815899	chr6:73998822-73998823	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs544557725	chr6:73998878-73998879	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs571230388	chr6:73998910-73998911	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs562936456	chr6:73998934-73998935	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9446884	chr6:73998936-73998937	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542357588	chr6:73998981-73998982	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185829174	chr6:73998993-73998994	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs527747664	chr6:73999015-73999016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs141726374	chr6:73999024-73999025	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs565041917	chr6:73999025-73999026	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs71540386	chr6:73999056-73999057	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569007092	chr6:73999057-73999058	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs77593322	chr6:73999081-73999082	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs60179008	chr6:73999082-73999083	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113408604	chr6:73999115-73999116	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs190935322	chr6:73999118-73999119	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs62438243	chr6:73999246-73999247	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs183080197	chr6:73999279-73999280	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs548121399	chr6:73999286-73999287	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs369315236	chr6:73999301-73999302	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs566238853	chr6:73999340-73999341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138703340	chr6:73999348-73999349	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558754506	chr6:73999402-73999403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372417178	chr6:73999412-73999413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538572330	chr6:73999424-73999425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7758047	chr6:73999460-73999461	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs575031500	chr6:73999489-73999490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555905276	chr6:73999508-73999509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142757018	chr6:73999514-73999515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377113458	chr6:73999519-73999520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78648883	chr6:73999592-73999593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560482481	chr6:73999603-73999604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7758517	chr6:73999670-73999671	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186054854	chr6:73999680-73999681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199627676	chr6:73999690-73999691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7758533	chr6:73999695-73999696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572597048	chr6:73999701-73999702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7758669	chr6:73999747-73999748	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543431018	chr6:73999785-73999786	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373936744	chr6:73999786-73999787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
Malignant fibrous histiocytomas	21085701	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73973400-74000400	Weak transcription	Aorta	Aorta
2	chr6:73973600-74018600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:73973600-74018600	Weak transcription	A549	lung
4	chr6:73973600-74018800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:73973800-74000400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:73974000-74000400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:73974000-74009000	Weak transcription	HSMM	muscle
8	chr6:73974000-74018400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:73974400-74000400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:73974400-74000400	Weak transcription	NHDF-Ad	bronchial
11	chr6:73974400-74008800	Weak transcription	NH-A	brain
12	chr6:73974400-74009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr6:73974600-74008600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:73974800-74000400	Weak transcription	Brain Anterior Caudate	brain
15	chr6:73974800-74008600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr6:73977400-74008800	Weak transcription	Fetal Brain Male	brain
17	chr6:73979200-74004400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:73983800-74018600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:73984400-74000200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:73984400-74018600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr6:73984600-74002200	Weak transcription	Primary T cells from cord blood	blood
22	chr6:73984800-74000800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr6:73984800-74004400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr6:73984800-74008600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:73985200-74000400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:73985200-74004600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:73985200-74008800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr6:73985400-74000000	Weak transcription	HMEC	breast
29	chr6:73985400-74000400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:73985400-74000600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr6:73985400-74009000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:73985600-74000400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:73985600-74000400	Weak transcription	Brain Germinal Matrix	brain
34	chr6:73985600-74000400	Weak transcription	Fetal Muscle Leg	muscle
35	chr6:73985600-74004800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr6:73985600-74008800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:73985600-74008800	Weak transcription	Thymus	Thymus
38	chr6:73985800-74000200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:73985800-74000400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr6:73985800-74006800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr6:73985800-74008800	Weak transcription	Ovary	ovary
42	chr6:73986000-74000400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:73986400-74000000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:73986400-74008600	Weak transcription	Fetal Brain Female	brain
45	chr6:73989000-74000000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:73989000-74017200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:73989800-74008800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:73990000-74003800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:73991000-74000800	Weak transcription	Fetal Thymus	thymus
50	chr6:73991600-74000200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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