Variant report

Variant	nsv945556
Chromosome Location	chr1:197185741-197190908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr1:197189787-197190127	K562	blood:	n/a	n/a
2	GATA3	chr1:197186146-197186250	SH-SY5Y	brain:	n/a	n/a
3	JUND	chr1:197187151-197187438	HepG2	liver:	n/a	chr1:197187253-197187262
4	MAX	chr1:197186350-197186581	NB4	blood:	n/a	chr1:197186472-197186482 chr1:197186423-197186433
5	MAX	chr1:197188852-197188858	GM12878	blood:	n/a	n/a
6	MAX	chr1:197186386-197186586	H1-hESC	embryonic stem cell:	n/a	chr1:197186472-197186482 chr1:197186423-197186433
7	POLR2A	chr1:197186372-197186400	MCF10A-Er-Src	breast:	n/a	n/a
8	SMC3	chr1:197188097-197188185	GM12878	blood:	n/a	n/a
9	STAT1	chr1:197188777-197189287	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:197169410..197171188-chr1:197190699..197192659,2	MCF-7	breast:
2	chr1:197170057..197173332-chr1:197185473..197188777,4	K562	blood:
3	chr1:197185992..197188090-chr1:197191988..197194131,2	K562	blood:
4	chr1:197169349..197172119-chr1:197188973..197191189,3	MCF-7	breast:
5	chr1:197170132..197172139-chr1:197185783..197189433,4	K562	blood:
6	chr1:197185876..197187759-chr1:197190891..197193116,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237861	TF binding region
ENSG00000134376	chromatin interactions
ENSG00000237861	chromatin interactions
ENSG00000177888	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576396745	chr1:197185745-197185746	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529192022	chr1:197185764-197185765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs114921922	chr1:197185800-197185801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558629899	chr1:197185905-197185906	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs114793671	chr1:197185988-197185989	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs544868008	chr1:197186046-197186047	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs559949713	chr1:197186097-197186098	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs79950744	chr1:197186195-197186196	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs1764627	chr1:197186201-197186202	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs560640651	chr1:197186212-197186213	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs116780547	chr1:197186233-197186234	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs143487822	chr1:197186244-197186245	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs78471047	chr1:197186249-197186250	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs532857570	chr1:197186250-197186251	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs548097145	chr1:197186260-197186261	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs566307567	chr1:197186266-197186267	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs550573733	chr1:197186291-197186292	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs111745045	chr1:197186321-197186322	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs552978936	chr1:197186364-197186365	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs548757501	chr1:197186374-197186375	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs570136342	chr1:197186391-197186392	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs574788724	chr1:197186417-197186418	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150089253	chr1:197186422-197186423	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs116345223	chr1:197186449-197186450	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs77944649	chr1:197186468-197186469	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs180793652	chr1:197186562-197186563	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs56337370	chr1:197186564-197186565	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs78291071	chr1:197186596-197186597	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs571951385	chr1:197186600-197186601	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs368829557	chr1:197186751-197186752	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs542422538	chr1:197186806-197186807	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs376150031	chr1:197186880-197186881	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs560874442	chr1:197186920-197186921	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs185056269	chr1:197186922-197186923	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs543119316	chr1:197186956-197186957	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs564931381	chr1:197187015-197187016	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs563515893	chr1:197187070-197187071	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs531994161	chr1:197187121-197187122	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs114738373	chr1:197187174-197187175	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs560095457	chr1:197187239-197187240	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs146534771	chr1:197187288-197187289	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs548819755	chr1:197187315-197187316	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs570115037	chr1:197187353-197187354	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs12734982	chr1:197187362-197187363	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs569251319	chr1:197187386-197187387	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs552367638	chr1:197187480-197187481	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs570870785	chr1:197187481-197187482	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs534689773	chr1:197187493-197187494	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529509708	chr1:197187518-197187519	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs543929017	chr1:197187526-197187527	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197172600-197194200	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:197188600-197189200	Enhancers	Dnd41	blood
3	chr1:197188800-197189200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:197189600-197189800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:197189600-197190000	Enhancers	Placenta	Placenta
6	chr1:197190000-197190600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:197190000-197191200	Weak transcription	Placenta	Placenta
8	chr1:197190000-197204400	Weak transcription	Left Ventricle	heart
9	chr1:197190200-197203000	Weak transcription	Aorta	Aorta
10	chr1:197190600-197192000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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