Variant report

Variant	esv17951
Chromosome Location	chr6:160511946-160512441
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr6:160511916-160512495	GM12878	blood:	n/a	n/a
2	BCL11A	chr6:160512127-160512357	GM12878	blood:	n/a	n/a
3	BCL3	chr6:160512282-160512673	GM12878	blood:	n/a	chr6:160512524-160512532
4	BCL3	chr6:160512272-160512588	GM12878	blood:	n/a	chr6:160512524-160512532
5	BCL3	chr6:160511768-160512245	GM12878	blood:	n/a	n/a
6	BCL3	chr6:160511720-160512239	GM12878	blood:	n/a	n/a
7	EBF1	chr6:160512098-160512482	GM12878	blood:	n/a	n/a
8	EP300	chr6:160512111-160512526	GM12878	blood:	n/a	n/a
9	FOSL2	chr6:160512015-160512564	HepG2	liver:	n/a	n/a
10	MYBL2	chr6:160511436-160512012	HepG2	liver:	n/a	n/a
11	MYC	chr6:160512198-160512257	H1-hESC	embryonic stem cell:	n/a	n/a
12	NFATC1	chr6:160512292-160512671	GM12878	blood:	n/a	n/a
13	NFATC1	chr6:160511802-160512118	GM12878	blood:	n/a	n/a
14	PAX5	chr6:160511779-160512536	GM12878	blood:	n/a	n/a
15	PAX5	chr6:160512146-160512422	GM12878	blood:	n/a	n/a
16	PBX3	chr6:160511765-160512537	GM12878	blood:	n/a	n/a
17	PBX3	chr6:160511842-160512465	GM12878	blood:	n/a	n/a
18	POLR2A	chr6:160511820-160512529	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:160512086-160512155	K562	blood:	n/a	n/a
20	POLR2A	chr6:160512119-160512140	HepG2	liver:	n/a	n/a
21	POLR2A	chr6:160511770-160512640	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:160512158-160512363	A549	lung:	n/a	n/a
23	POLR2A	chr6:160511782-160512525	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:160512062-160512472	GM12892	blood:	n/a	n/a
25	POLR2A	chr6:160511786-160512523	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr6:160511818-160512540	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr6:160511848-160512056	K562	blood:	n/a	n/a
28	POLR2A	chr6:160511784-160512509	GM12891	blood:	n/a	n/a
29	POLR2A	chr6:160511813-160512528	GM12878	blood:	n/a	n/a
30	POLR2A	chr6:160511782-160512612	GM12892	blood:	n/a	n/a
31	POLR2A	chr6:160511859-160512107	HepG2	liver:	n/a	n/a
32	POLR2A	chr6:160511728-160512552	GM12891	blood:	n/a	n/a
33	POLR2A	chr6:160511686-160512639	GM12892	blood:	n/a	n/a
34	POU2F2	chr6:160511836-160512564	GM12891	blood:	n/a	n/a
35	REST	chr6:160511883-160512493	PANC-1	pancreas:	n/a	n/a
36	RXRA	chr6:160511998-160512487	GM12878	blood:	n/a	n/a
37	SIX5	chr6:160512048-160512502	GM12878	blood:	n/a	n/a
38	SP1	chr6:160511791-160512500	GM12878	blood:	n/a	n/a
39	SPI1	chr6:160512082-160512413	GM12878	blood:	n/a	n/a
40	TCF12	chr6:160511798-160512574	GM12878	blood:	n/a	chr6:160512480-160512490
41	TCF12	chr6:160512038-160512507	GM12878	blood:	n/a	chr6:160512480-160512490
42	TCF3	chr6:160512157-160512313	GM12878	blood:	n/a	n/a
43	TCF3	chr6:160511769-160512621	GM12878	blood:	n/a	chr6:160512545-160512561 chr6:160512549-160512558
44	ZNF263	chr6:160512268-160512503	HEK293-T-REx	kidney:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:160512064-160512114	HRPEpiC	eye:	n/a
2	chr6:160512064-160512114	HCT-116	colon:	n/a
3	chr6:160512064-160512114	BJ	skin:	n/a
4	chr6:160511937-160511987	PrEC	prostate:	n/a
5	chr6:160512064-160512114	NHDF-neo	bronchial:	n/a
6	chr6:160511937-160511987	GM06990	blood:	n/a
7	chr6:160512064-160512114	GM12878	blood:	n/a
8	chr6:160512064-160512114	T-47D	breast:	n/a
9	chr6:160512064-160512114	H1-hESC	embryonic stem cell:	embryo
10	chr6:160511937-160511987	GM19239	blood:	n/a
11	chr6:160511937-160511987	AoSMC	blood vessel:	n/a
12	chr6:160512064-160512114	HMEC	breast:	n/a
13	chr6:160512064-160512114	HCPEpiC	choroid plexus:	n/a
14	chr6:160512064-160512114	ovcar-3	ovarian:	n/a
15	chr6:160512064-160512114	A549	lung:	n/a
16	chr6:160511937-160511987	HIPEpiC	eye:	n/a
17	chr6:160512064-160512114	CMK	blood:	n/a
18	chr6:160512064-160512114	GM06990	blood:	n/a
19	chr6:160512064-160512114	AG09319	gingival:	n/a
20	chr6:160511937-160511987	SKMC	muscle:	n/a
21	chr6:160511937-160511987	LNCaP	prostate:	n/a
22	chr6:160512064-160512114	NT2-D1	testis:	n/a
23	chr6:160512064-160512114	HRE	kidney:	n/a
24	chr6:160511937-160511987	BE2_C	brain:	n/a
25	chr6:160512064-160512114	HepG2	liver:	n/a
26	chr6:160511937-160511987	HCT-116	colon:	n/a
27	chr6:160512064-160512114	AG09309	skin:	n/a
28	chr6:160512064-160512114	HCF	heart:	n/a
29	chr6:160512064-160512114	SK-N-MC	brain:	n/a
30	chr6:160512064-160512114	AG04450	lung:	fetal
31	chr6:160512064-160512114	MCF-7	breast:	n/a
32	chr6:160511937-160511987	RPTEC	kidney:	n/a
33	chr6:160511937-160511987	MCF10A-Er-Src	breast:	n/a
34	chr6:160511937-160511987	HNPCEpiC	eye:	n/a
35	chr6:160512064-160512114	LNCaP	prostate:	n/a
36	chr6:160511937-160511987	GM12878	blood:	n/a
37	chr6:160511937-160511987	HCPEpiC	choroid plexus:	n/a
38	chr6:160511937-160511987	GM12892	blood:	n/a
39	chr6:160511937-160511987	HEEpiC	esophagus:	n/a
40	chr6:160511937-160511987	Caco-2	colon:	n/a
41	chr6:160512064-160512114	NH-A	brain:	n/a
42	chr6:160512064-160512114	HUVEC	blood vessel:	n/a
43	chr6:160512064-160512114	HRCEpiC	kidney:	n/a
44	chr6:160511937-160511987	HEK293	kidney:	embryo
45	chr6:160511937-160511987	T-47D	breast:	n/a
46	chr6:160512064-160512114	ECC-1	luminal epithelium:	n/a
47	chr6:160511937-160511987	IMR90	lung:	fetal
48	chr6:160511937-160511987	SK-N-MC	brain:	n/a
49	chr6:160512064-160512114	SK-N-SH	brain:	n/a
50	chr6:160512064-160512114	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:160390320..160392999-chr6:160511541..160513523,2	K562	blood:
2	chr6:160511361..160513426-chr6:160520091..160521707,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000213073	TF binding region
ENSG00000213073	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533448052	chr6:160511950-160511951	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
2	rs377485043	chr6:160511951-160511952	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs543863618	chr6:160511959-160511960	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs563696837	chr6:160511977-160511978	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs529273248	chr6:160511984-160511985	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs549662870	chr6:160511985-160511986	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs370316809	chr6:160512002-160512003	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs372469278	chr6:160512004-160512005	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs528730346	chr6:160512040-160512041	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs376036920	chr6:160512069-160512070	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs112187246	chr6:160512082-160512083	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs539126029	chr6:160512111-160512112	Weak transcription Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs555805219	chr6:160512151-160512152	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs112550028	chr6:160512184-160512185	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs569319650	chr6:160512231-160512232	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs112895506	chr6:160512232-160512233	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs58444339	chr6:160512364-160512365	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535060721	chr6:160512372-160512373	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs437259	chr6:160512390-160512391	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs555679486	chr6:160512415-160512416	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs572234249	chr6:160512416-160512417	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs541252550	chr6:160512434-160512435	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs557961130	chr6:160512435-160512436	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs181995419	chr6:160512437-160512438	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	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
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
Melanoma	18172304	CNVD
Cancer	21637783	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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160444200-160521600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr6:160453000-160534600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:160455800-160532000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:160459600-160519200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:160460800-160520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:160460800-160520200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:160464400-160519800	Strong transcription	Lung	lung
8	chr6:160464600-160531800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:160465600-160530800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:160466000-160521000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:160474200-160519600	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:160474200-160519800	Strong transcription	Fetal Stomach	stomach
13	chr6:160474400-160520600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr6:160477200-160531200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:160477200-160531400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:160485000-160512600	Weak transcription	Right Atrium	heart
17	chr6:160485800-160522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:160487600-160520000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:160487600-160530800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:160487800-160515600	Strong transcription	Right Ventricle	heart
21	chr6:160487800-160519200	Strong transcription	Esophagus	oesophagus
22	chr6:160487800-160519400	Strong transcription	Gastric	stomach
23	chr6:160487800-160519800	Strong transcription	Ovary	ovary
24	chr6:160487800-160519800	Strong transcription	Pancreas	Pancrea
25	chr6:160487800-160520200	Strong transcription	Adipose Nuclei	Adipose
26	chr6:160490200-160531400	Strong transcription	Dnd41	blood
27	chr6:160490400-160521200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:160490600-160519800	Strong transcription	Spleen	Spleen
29	chr6:160490600-160521000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr6:160490600-160521200	Strong transcription	Thymus	Thymus
31	chr6:160490800-160521400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:160491000-160518200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr6:160491000-160519600	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr6:160491200-160517800	Weak transcription	HUVEC	blood vessel
35	chr6:160491200-160519200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:160491200-160520200	Strong transcription	Primary T cells from cord blood	blood
37	chr6:160491200-160520400	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr6:160491200-160531400	Strong transcription	Fetal Thymus	thymus
39	chr6:160492000-160528800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr6:160492600-160521200	Strong transcription	Primary B cells from cord blood	blood
41	chr6:160498400-160519200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:160498800-160520200	Strong transcription	Primary B cells from peripheral blood	blood
43	chr6:160499600-160522200	Weak transcription	Fetal Heart	heart
44	chr6:160501400-160522000	Weak transcription	Psoas Muscle	Psoas
45	chr6:160501400-160522400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:160501600-160520200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:160501600-160527000	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:160502200-160515800	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr6:160502200-160521800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:160502600-160513400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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