Variant report

Variant	nsv525417
Chromosome Location	chr1:77154319-77163893
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	ATF3	chr1:77156408-77156900	HCT-116	colon:	n/a	n/a
2	CBX3	chr1:77156384-77156905	HCT-116	colon:	n/a	n/a
3	CTCF	chr1:77154760-77154910	GM12870	blood:	n/a	n/a
4	CTCF	chr1:77162120-77162270	HBMEC	blood vessel:	n/a	n/a
5	E2F4	chr1:77156636-77156798	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr1:77161091-77161907	SK-N-SH	brain:	n/a	n/a
7	FOS	chr1:77156498-77156756	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr1:77156593-77156701	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr1:77156647-77156671	MCF10A-Er-Src	breast:	n/a	n/a
10	FOSL1	chr1:77156328-77156914	HCT-116	colon:	n/a	n/a
11	FOSL1	chr1:77156420-77157005	HCT-116	colon:	n/a	n/a
12	GATA2	chr1:77161259-77161554	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr1:77161119-77161645	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr1:77156278-77156917	SK-N-SH	brain:	n/a	chr1:77156477-77156487
15	GATA3	chr1:77161076-77161684	SH-SY5Y	brain:	n/a	n/a
16	GATA3	chr1:77161126-77161737	SK-N-SH	brain:	n/a	n/a
17	JUND	chr1:77156660-77156700	H1-hESC	embryonic stem cell:	n/a	n/a
18	JUND	chr1:77156389-77156989	HCT-116	colon:	n/a	n/a
19	JUND	chr1:77156388-77156802	HCT-116	colon:	n/a	n/a
20	POLR2A	chr1:77156515-77156795	HCT-116	colon:	n/a	n/a
21	SP1	chr1:77156388-77156991	HCT-116	colon:	n/a	n/a
22	STAT3	chr1:77160822-77160947	MCF10A-Er-Src	breast:	n/a	n/a
23	TCF12	chr1:77156387-77156996	SK-N-SH	brain:	n/a	n/a
24	TCF12	chr1:77161140-77161771	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77160313..77162146-chr1:77164141..77166438,2	K562	blood:
2	chr1:77147990..77150135-chr1:77152468..77154920,2	MCF-7	breast:

Variant related genes	Relation type
TPI1P1	TF binding region
ENSG00000226415	chromatin interactions

Extended variants
information (count: 308 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs638072	chr1:77154319-77154320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141818183	chr1:77154348-77154349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537577059	chr1:77154355-77154356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549826338	chr1:77154373-77154374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568012652	chr1:77154374-77154375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535423084	chr1:77154469-77154470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553764528	chr1:77154499-77154500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572782682	chr1:77154547-77154548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113021663	chr1:77154589-77154590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs33956087	chr1:77154590-77154591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183344784	chr1:77154600-77154601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558402736	chr1:77154601-77154602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576554768	chr1:77154701-77154702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550449368	chr1:77154722-77154723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562200754	chr1:77154738-77154739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574008583	chr1:77154739-77154740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532250726	chr1:77154758-77154759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541030153	chr1:77154814-77154815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147093395	chr1:77154901-77154902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527596709	chr1:77154912-77154913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138246362	chr1:77154966-77154967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374151834	chr1:77154972-77154973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564155153	chr1:77155023-77155024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187341708	chr1:77155046-77155047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531531246	chr1:77155063-77155064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191750890	chr1:77155119-77155120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568157557	chr1:77155134-77155135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199977043	chr1:77155159-77155160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568923303	chr1:77155189-77155190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548871	chr1:77155222-77155223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547439393	chr1:77155225-77155226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565648637	chr1:77155234-77155235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78260501	chr1:77155255-77155256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558484118	chr1:77155289-77155290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576597082	chr1:77155320-77155321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182530233	chr1:77155389-77155390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555631737	chr1:77155421-77155422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574101110	chr1:77155424-77155425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534879329	chr1:77155483-77155484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186816151	chr1:77155497-77155498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373179060	chr1:77155594-77155595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191325409	chr1:77155635-77155636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185758402	chr1:77155636-77155637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564396124	chr1:77155637-77155638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188720224	chr1:77155668-77155669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144490486	chr1:77155717-77155718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561706785	chr1:77155722-77155723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529016326	chr1:77155761-77155762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs967188	chr1:77155806-77155807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147993502	chr1:77155826-77155827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77153600-77156800	Weak transcription	Aorta	Aorta
2	chr1:77153800-77158200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:77154800-77155200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:77155600-77156000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:77156000-77157200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:77156000-77157200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:77156600-77157000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:77156800-77157000	Enhancers	Aorta	Aorta
9	chr1:77157000-77158200	Weak transcription	Aorta	Aorta
10	chr1:77157000-77161200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:77157200-77158200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:77158200-77158600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:77158200-77158800	ZNF genes & repeats	Aorta	Aorta
14	chr1:77158200-77159000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:77161200-77161400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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