Variant report

Variant	nsv886758
Chromosome Location	chr6:147644505-147679631
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:146)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:146 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:147668403-147668878	K562	blood:	n/a	n/a
2	BCL3	chr6:147666819-147668873	K562	blood:	n/a	n/a
3	BCL3	chr6:147673487-147674459	K562	blood:	n/a	n/a
4	BCL3	chr6:147666121-147666736	K562	blood:	n/a	n/a
5	CCNT2	chr6:147670514-147670836	K562	blood:	n/a	n/a
6	CCNT2	chr6:147653145-147653160	K562	blood:	n/a	n/a
7	CCNT2	chr6:147667511-147667654	K562	blood:	n/a	n/a
8	CCNT2	chr6:147659167-147659323	K562	blood:	n/a	n/a
9	CCNT2	chr6:147667909-147668231	K562	blood:	n/a	n/a
10	CHD2	chr6:147667441-147667450	K562	blood:	n/a	n/a
11	CTCF	chr6:147673474-147673563	Lung_OC	lung:	n/a	n/a
12	CTCF	chr6:147662420-147662570	HCPEpiC	choroid plexus:	n/a	n/a
13	CTCF	chr6:147667834-147667885	GM10266	blood:	n/a	n/a
14	E2F4	chr6:147672161-147672212	MCF10A-Er-Src	breast:	n/a	n/a
15	EBF1	chr6:147651706-147651713	GM12878	blood:	n/a	n/a
16	EGR1	chr6:147662640-147662959	K562	blood:	n/a	n/a
17	EGR1	chr6:147662570-147662954	K562	blood:	n/a	n/a
18	EP300	chr6:147665369-147665425	K562	blood:	n/a	n/a
19	GATA3	chr6:147662374-147662607	SH-SY5Y	brain:	n/a	n/a
20	HMGN3	chr6:147670694-147670898	K562	blood:	n/a	n/a
21	IRF1	chr6:147668709-147668786	K562	blood:	n/a	n/a
22	JUN	chr6:147652977-147653062	K562	blood:	n/a	n/a
23	JUN	chr6:147672019-147672031	K562	blood:	n/a	n/a
24	KAP1	chr6:147657835-147657996	K562	blood:	n/a	n/a
25	KAP1	chr6:147654922-147655417	K562	blood:	n/a	n/a
26	KAP1	chr6:147655843-147655928	K562	blood:	n/a	n/a
27	MAX	chr6:147645007-147645048	NB4	blood:	n/a	n/a
28	MAZ	chr6:147668106-147668187	HepG2	liver:	n/a	n/a
29	MAZ	chr6:147665874-147665886	HepG2	liver:	n/a	n/a
30	NFE2	chr6:147649239-147649314	GM12878	blood:	n/a	n/a
31	NFYA	chr6:147664621-147664774	K562	blood:	n/a	n/a
32	PML	chr6:147667741-147668595	K562	blood:	n/a	n/a
33	PML	chr6:147666969-147667608	K562	blood:	n/a	n/a
34	POLR2A	chr6:147664633-147664884	K562	blood:	n/a	n/a
35	POLR2A	chr6:147674085-147674168	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr6:147671879-147672473	K562	blood:	n/a	n/a
37	POLR2A	chr6:147661314-147661364	K562	blood:	n/a	n/a
38	POLR2A	chr6:147653099-147653891	K562	blood:	n/a	n/a
39	POLR2A	chr6:147669276-147669521	K562	blood:	n/a	n/a
40	POLR2A	chr6:147665487-147666225	K562	blood:	n/a	n/a
41	POLR2A	chr6:147674264-147674271	MCF-7	breast:	n/a	n/a
42	POLR2A	chr6:147656445-147656601	K562	blood:	n/a	n/a
43	POLR2A	chr6:147668054-147668074	GM12878	blood:	n/a	n/a
44	POLR2A	chr6:147663028-147663878	K562	blood:	n/a	n/a
45	POLR2A	chr6:147651255-147652257	K562	blood:	n/a	n/a
46	POLR2A	chr6:147667938-147667999	K562	blood:	n/a	n/a
47	POLR2A	chr6:147673459-147673588	MCF-7	breast:	n/a	n/a
48	POLR2A	chr6:147644654-147644689	K562	blood:	n/a	n/a
49	POLR2A	chr6:147670377-147670992	K562	blood:	n/a	n/a
50	POLR2A	chr6:147644893-147645016	K562	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:147644229..147646379-chr6:147656668..147659345,2	K562	blood:
2	chr6:147638465..147640199-chr6:147644851..147646514,2	MCF-7	breast:
3	chr6:147633394..147635714-chr6:147648364..147650085,2	K562	blood:
4	chr6:147603218..147605835-chr6:147644641..147647408,2	K562	blood:
5	chr6:147660277..147661948-chr6:147667119..147669406,3	K562	blood:
6	chr6:147664249..147666005-chr6:147673962..147676762,2	K562	blood:
7	chr6:147648442..147651274-chr6:147664737..147666741,2	MCF-7	breast:
8	chr6:147632716..147635508-chr6:147662008..147664678,2	K562	blood:
9	chr6:147640420..147643294-chr6:147648350..147651490,3	K562	blood:
10	chr6:147649628..147652559-chr6:147657178..147658972,2	K562	blood:
11	chr6:147664249..147666005-chr6:147673962..147676762,2	K562	blood:
12	chr6:147649628..147652559-chr6:147657178..147658972,2	K562	blood:
13	chr6:147628703..147630384-chr6:147656186..147658681,2	K562	blood:
14	chr6:147656651..147659258-chr6:147668248..147670413,2	K562	blood:
15	chr6:147644229..147646379-chr6:147656668..147659345,2	K562	blood:
16	chr6:147674142..147676430-chr6:147682128..147684419,2	K562	blood:
17	chr6:147590566..147593187-chr6:147668783..147670491,2	K562	blood:
18	chr6:147643796..147646367-chr6:147650099..147652941,2	K562	blood:
19	chr6:147643796..147646367-chr6:147650099..147652941,2	K562	blood:
20	chr6:147603613..147606358-chr6:147670525..147673088,2	K562	blood:
21	chr6:147660277..147661948-chr6:147667119..147669406,3	K562	blood:
22	chr6:147640144..147641920-chr6:147649062..147651490,2	K562	blood:
23	chr6:147648442..147651274-chr6:147664737..147666741,2	MCF-7	breast:
24	chr6:147674544..147676430-chr6:147682128..147684379,2	K562	blood:
25	chr6:147656651..147659258-chr6:147668248..147670413,2	K562	blood:

No data

Variant related genes	Relation type
STXBP5	TF binding region

Extended variants
information (count: 1196 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1196 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4896904	chr6:147644505-147644506	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190650010	chr6:147644509-147644510	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182888435	chr6:147644519-147644520	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147458086	chr6:147644589-147644590	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536458782	chr6:147644599-147644600	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561370768	chr6:147644607-147644608	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377433770	chr6:147644611-147644612	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139723882	chr6:147644719-147644720	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563990960	chr6:147644725-147644726	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145318434	chr6:147644728-147644729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539796224	chr6:147644814-147644815	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558441802	chr6:147644817-147644818	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578089790	chr6:147644820-147644821	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371087474	chr6:147644854-147644855	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529190638	chr6:147644877-147644878	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144999566	chr6:147644909-147644910	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs187249723	chr6:147644943-147644944	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs531878575	chr6:147644970-147644971	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs551870692	chr6:147644984-147644985	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs149093430	chr6:147645024-147645025	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs11752536	chr6:147645070-147645071	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs571623622	chr6:147645138-147645139	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs117730835	chr6:147645192-147645193	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs553933792	chr6:147645209-147645210	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs78632974	chr6:147645225-147645226	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs567659647	chr6:147645248-147645249	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs573787653	chr6:147645281-147645282	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs191703142	chr6:147645284-147645285	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs556373564	chr6:147645285-147645286	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs569930438	chr6:147645302-147645303	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs538827900	chr6:147645303-147645304	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs182981265	chr6:147645311-147645312	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs187563259	chr6:147645339-147645340	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs377752104	chr6:147645374-147645375	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1236280	chr6:147645390-147645391	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373097052	chr6:147645399-147645400	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9390457	chr6:147645400-147645401	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71566473	chr6:147645401-147645402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs202159624	chr6:147645409-147645410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542929489	chr6:147645429-147645430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562740515	chr6:147645439-147645440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142107173	chr6:147645471-147645472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9399597	chr6:147645472-147645473	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140301931	chr6:147645477-147645478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373915070	chr6:147645489-147645490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367770519	chr6:147645491-147645492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs193297534	chr6:147645501-147645502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185560539	chr6:147645502-147645503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567306076	chr6:147645512-147645513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530002080	chr6:147645546-147645547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Autism	22495311	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
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
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
Zellweger syndrome	21572526	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
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:595 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147584400-147684600	Weak transcription	Brain Angular Gyrus	brain
2	chr6:147607400-147707400	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:147609800-147667000	Weak transcription	NHEK	skin
4	chr6:147610200-147700200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:147617400-147680200	Weak transcription	Small Intestine	intestine
6	chr6:147618600-147648400	Weak transcription	HSMMtube	muscle
7	chr6:147618600-147649000	Weak transcription	Fetal Kidney	kidney
8	chr6:147619200-147690200	Weak transcription	Fetal Heart	heart
9	chr6:147619800-147648400	Weak transcription	Fetal Brain Male	brain
10	chr6:147622600-147708200	Weak transcription	Psoas Muscle	Psoas
11	chr6:147625600-147647000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr6:147625600-147648600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:147625800-147651200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:147625800-147664600	Weak transcription	Spleen	Spleen
15	chr6:147625800-147667400	Weak transcription	Gastric	stomach
16	chr6:147626000-147645000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:147626000-147648600	Weak transcription	Fetal Stomach	stomach
18	chr6:147626000-147650600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:147626000-147687000	Weak transcription	Lung	lung
20	chr6:147626000-147700200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:147626200-147662600	Weak transcription	Pancreas	Pancrea
22	chr6:147626200-147670200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:147626200-147684000	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:147626200-147684000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:147626200-147687200	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:147626200-147707600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:147626400-147655400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:147626400-147700000	Weak transcription	Brain Germinal Matrix	brain
29	chr6:147628000-147648600	Weak transcription	Fetal Intestine Small	intestine
30	chr6:147628000-147648600	Weak transcription	Right Ventricle	heart
31	chr6:147628000-147668000	Weak transcription	Aorta	Aorta
32	chr6:147628200-147687000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:147631400-147707200	Weak transcription	Hela-S3	cervix
34	chr6:147632000-147648800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:147633200-147650000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr6:147633800-147684400	Weak transcription	Ovary	ovary
37	chr6:147634800-147650000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:147635800-147647600	Weak transcription	Placenta	Placenta
39	chr6:147637000-147686800	Weak transcription	A549	lung
40	chr6:147637600-147644800	Weak transcription	Brain Anterior Caudate	brain
41	chr6:147637800-147647200	Weak transcription	Brain Substantia Nigra	brain
42	chr6:147638200-147647600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr6:147638400-147655200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:147639800-147647200	Weak transcription	NHLF	lung
45	chr6:147639800-147649400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:147639800-147654600	Weak transcription	HUVEC	blood vessel
47	chr6:147640000-147664400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:147640200-147648600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:147640200-147649200	Weak transcription	NH-A	brain
50	chr6:147641600-147646800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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