Variant report

Variant	nsv963051
Chromosome Location	chr19:41538195-41558450
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:41551132-41551364	K562	blood:	n/a	n/a
2	ATF3	chr19:41545692-41546096	K562	blood:	n/a	n/a
3	BACH1	chr19:41545740-41546031	K562	blood:	n/a	n/a
4	BACH1	chr19:41545723-41546056	H1-hESC	embryonic stem cell:	n/a	n/a
5	CBX3	chr19:41545744-41546043	K562	blood:	n/a	n/a
6	CBX3	chr19:41545730-41546088	K562	blood:	n/a	n/a
7	CEBPB	chr19:41548015-41548148	A549	lung:	n/a	n/a
8	CEBPB	chr19:41537723-41538348	MCF-7	breast:	n/a	chr19:41537946-41537958
9	CEBPB	chr19:41537730-41538295	MCF-7	breast:	n/a	chr19:41537946-41537958
10	CTCF	chr19:41542416-41542473	Spleen_OC	spleen:	n/a	n/a
11	CTCF	chr19:41557934-41557963	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr19:41553164-41553241	Lung_OC	lung:	n/a	n/a
13	CTCF	chr19:41557236-41557308	Kidney_OC	kidney:	n/a	n/a
14	CUX1	chr19:41546712-41546725	GM12878	blood:	n/a	n/a
15	EGR1	chr19:41537812-41538229	MCF-7	breast:	n/a	n/a
16	EP300	chr19:41558119-41558531	MCF-7	breast:	n/a	chr19:41558406-41558416
17	EP300	chr19:41537736-41538331	MCF-7	breast:	n/a	n/a
18	EP300	chr19:41537775-41538253	T-47D	breast:	n/a	n/a
19	EP300	chr19:41537597-41538330	T-47D	breast:	n/a	n/a
20	EP300	chr19:41547236-41547282	GM12878	blood:	n/a	n/a
21	EP300	chr19:41545890-41545986	K562	blood:	n/a	n/a
22	ESR1	chr19:41537742-41538198	T-47D	breast:	n/a	n/a
23	ESR1	chr19:41558057-41558513	T-47D	breast:	n/a	n/a
24	ESR1	chr19:41558021-41558537	T-47D	breast:	n/a	n/a
25	ESR1	chr19:41537686-41538335	T-47D	breast:	n/a	n/a
26	ESR1	chr19:41537714-41538216	T-47D	breast:	n/a	n/a
27	ESR1	chr19:41537625-41538267	T-47D	breast:	n/a	n/a
28	FOS	chr19:41545728-41545958	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr19:41551272-41551295	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr19:41545835-41546064	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr19:41551183-41551237	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr19:41545727-41545964	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr19:41545764-41545962	MCF10A-Er-Src	breast:	n/a	n/a
34	FOSL2	chr19:41551136-41551373	HepG2	liver:	n/a	n/a
35	FOXA1	chr19:41537799-41538217	T-47D	breast:	n/a	n/a
36	FOXA1	chr19:41537794-41538233	T-47D	breast:	n/a	n/a
37	FOXA2	chr19:41539285-41539712	A549	lung:	n/a	n/a
38	GATA3	chr19:41537636-41538294	MCF-7	breast:	n/a	n/a
39	GATA3	chr19:41537724-41538265	T-47D	breast:	n/a	n/a
40	GATA3	chr19:41558196-41558532	MCF-7	breast:	n/a	n/a
41	GATA3	chr19:41558187-41558543	MCF-7	breast:	n/a	n/a
42	GATA3	chr19:41537663-41538251	T-47D	breast:	n/a	n/a
43	GATA3	chr19:41537746-41538248	MCF-7	breast:	n/a	n/a
44	GATA3	chr19:41537492-41538540	MCF-7	breast:	n/a	n/a
45	HDAC2	chr19:41537835-41538297	MCF-7	breast:	n/a	n/a
46	HDAC2	chr19:41537891-41538233	MCF-7	breast:	n/a	n/a
47	JUN	chr19:41551165-41551374	K562	blood:	n/a	n/a
48	JUN	chr19:41545414-41546193	K562	blood:	n/a	n/a
49	JUN	chr19:41550912-41551462	K562	blood:	n/a	n/a
50	JUND	chr19:41545741-41546058	H1-hESC	embryonic stem cell:	n/a	chr19:41545874-41545885

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41426562..41427465-chr19:41557958..41558773,3	MCF-7	breast:
2	chr19:41558214..41561207-chr19:41573889..41576480,2	K562	blood:

No data

Variant related genes	Relation type
CYP2A7P1	TF binding region

Extended variants
information (count: 360 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186478289	chr19:41538217-41538218	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs7250597	chr19:41538224-41538225	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565489498	chr19:41538239-41538240	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs532808744	chr19:41538312-41538313	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs34301606	chr19:41538385-41538386	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs191863712	chr19:41538464-41538465	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs144782789	chr19:41538512-41538513	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs12982859	chr19:41538513-41538514	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs150878931	chr19:41538531-41538532	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs139291531	chr19:41538576-41538577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570108047	chr19:41538601-41538602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537155571	chr19:41538635-41538636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2316741	chr19:41538641-41538642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183718144	chr19:41538654-41538655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570357292	chr19:41538674-41538675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534592028	chr19:41538676-41538677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1080235	chr19:41538738-41538739	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs1080234	chr19:41538741-41538742	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs535399940	chr19:41538893-41538894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556700130	chr19:41538951-41538952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575371544	chr19:41538970-41538971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1807967	chr19:41539025-41539026	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs539603385	chr19:41539028-41539029	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs145179820	chr19:41539029-41539030	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs113152686	chr19:41539037-41539038	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs3898270	chr19:41539038-41539039	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs534800212	chr19:41539082-41539083	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs541348709	chr19:41539102-41539103	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs10417678	chr19:41539132-41539133	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546585035	chr19:41539158-41539159	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs369578676	chr19:41539172-41539173	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs142408152	chr19:41539208-41539209	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs386809324	chr19:41539211-41539212	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs373754258	chr19:41539212-41539213	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs143479693	chr19:41539219-41539220	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs10419098	chr19:41539257-41539258	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs13344485	chr19:41539273-41539274	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs58788920	chr19:41539283-41539284	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs546499469	chr19:41539309-41539310	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs188546312	chr19:41539310-41539311	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs548617049	chr19:41539325-41539326	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs556869084	chr19:41539373-41539374	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs575357558	chr19:41539379-41539380	Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs539530606	chr19:41539409-41539410	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35708153	chr19:41539457-41539458	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs112816029	chr19:41539465-41539466	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58511716	chr19:41539479-41539480	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs367598794	chr19:41539517-41539518	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541587074	chr19:41539526-41539527	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10418063	chr19:41539559-41539560	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41535400-41539400	Enhancers	Placenta	Placenta
2	chr19:41536600-41539000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr19:41537000-41539200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr19:41537200-41539000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr19:41537400-41539000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:41538000-41538400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:41538200-41539400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr19:41538400-41539000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr19:41538600-41539800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:41538800-41539000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr19:41538800-41539800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:41539000-41539400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr19:41539000-41539400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr19:41539000-41539400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:41539000-41539400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:41539200-41539400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:41539200-41539600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr19:41548400-41548600	Enhancers	Placenta	Placenta
19	chr19:41548600-41550000	Weak transcription	Placenta	Placenta
20	chr19:41550000-41550800	Enhancers	Placenta	Placenta
21	chr19:41550800-41551200	Weak transcription	Placenta	Placenta
22	chr19:41551200-41553000	Enhancers	Placenta	Placenta
23	chr19:41556400-41556600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr19:41556400-41557200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:41556400-41558600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:41557200-41558200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr19:41557400-41557600	Enhancers	Brain Substantia Nigra	brain
28	chr19:41558200-41558400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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