Variant report

Variant	nsv870852
Chromosome Location	chr1:74686064-74703758
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	E2F4	chr1:74701224-74701434	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr1:74688442-74688813	HUVEC	blood vessel:	n/a	chr1:74688589-74688599
3	FOS	chr1:74688512-74688685	MCF10A-Er-Src	breast:	n/a	chr1:74688589-74688599
4	FOS	chr1:74688432-74688712	MCF10A-Er-Src	breast:	n/a	chr1:74688589-74688599
5	FOS	chr1:74688449-74688744	MCF10A-Er-Src	breast:	n/a	chr1:74688589-74688599
6	FOS	chr1:74688495-74688703	MCF10A-Er-Src	breast:	n/a	chr1:74688589-74688599
7	FOSL2	chr1:74688429-74688660	HepG2	liver:	n/a	chr1:74688589-74688599
8	FOSL2	chr1:74688369-74688751	MCF-7	breast:	n/a	chr1:74688589-74688599
9	FOXA1	chr1:74691924-74692192	HepG2	liver:	n/a	n/a
10	FOXA1	chr1:74688342-74688659	HepG2	liver:	n/a	chr1:74688597-74688612
11	FOXA1	chr1:74688435-74688764	HepG2	liver:	n/a	chr1:74688597-74688612
12	FOXA1	chr1:74688438-74688856	HepG2	liver:	n/a	chr1:74688597-74688612
13	FOXA2	chr1:74688390-74688734	A549	lung:	n/a	n/a
14	FOXA2	chr1:74688357-74688828	A549	lung:	n/a	n/a
15	JUN	chr1:74699193-74699208	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr1:74688522-74688710	HepG2	liver:	n/a	chr1:74688589-74688599 chr1:74688588-74688599
17	MAFK	chr1:74688566-74688628	HepG2	liver:	n/a	chr1:74688599-74688608
18	MAFK	chr1:74701346-74701464	HepG2	liver:	n/a	n/a
19	MAFK	chr1:74689036-74689259	HepG2	liver:	n/a	n/a
20	MAFK	chr1:74688442-74688752	IMR90	lung:	n/a	chr1:74688599-74688608
21	MYC	chr1:74696632-74696651	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:74691182-74691326	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr1:74701219-74701540	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr1:74696270-74696340	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr1:74701353-74701553	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr1:74689546-74689552	MCF10A-Er-Src	breast:	n/a	n/a
27	RFX5	chr1:74701445-74701465	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:74692052..74694076-chr1:74701127..74702957,2	K562	blood:
2	chr1:74701198..74703916-chr1:74780316..74782785,2	K562	blood:
3	chr1:74678336..74683250-chr1:74684950..74687498,5	K562	blood:
4	chr1:74692052..74694076-chr1:74701127..74702957,2	K562	blood:

Variant related genes	Relation type
TNNI3K	TF binding region

Extended variants
information (count: 644 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17094970	chr1:74686064-74686065	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374077470	chr1:74686070-74686071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562361488	chr1:74686090-74686091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576228390	chr1:74686125-74686126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114737007	chr1:74686241-74686242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184771486	chr1:74686298-74686299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530618766	chr1:74686314-74686315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548808892	chr1:74686346-74686347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569100800	chr1:74686353-74686354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567735675	chr1:74686357-74686358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534837372	chr1:74686408-74686409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142066176	chr1:74686486-74686487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188796738	chr1:74686487-74686488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202058114	chr1:74686491-74686492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181656243	chr1:74686513-74686514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539641462	chr1:74686526-74686527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541754604	chr1:74686578-74686579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557943176	chr1:74686596-74686597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151208888	chr1:74686642-74686643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186273949	chr1:74686663-74686664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555228516	chr1:74686664-74686665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190041578	chr1:74686729-74686730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533855580	chr1:74686739-74686740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540784867	chr1:74686765-74686766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559262414	chr1:74686772-74686773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78285157	chr1:74686788-74686789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370472605	chr1:74686806-74686807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577568692	chr1:74686828-74686829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77892607	chr1:74686879-74686880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563235438	chr1:74686882-74686883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530749611	chr1:74686889-74686890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532396	chr1:74686892-74686893	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs560939788	chr1:74686899-74686900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528543223	chr1:74686942-74686943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546779440	chr1:74686956-74686957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573564306	chr1:74686987-74686988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542142834	chr1:74687002-74687003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571756461	chr1:74687003-74687004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539025165	chr1:74687011-74687012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs533371	chr1:74687012-74687013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs569548728	chr1:74687029-74687030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575470416	chr1:74687081-74687082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180834820	chr1:74687090-74687091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185924235	chr1:74687105-74687106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189862510	chr1:74687122-74687123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116810606	chr1:74687131-74687132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144077765	chr1:74687132-74687133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146495410	chr1:74687155-74687156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs544592052	chr1:74687211-74687212	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141287882	chr1:74687230-74687231	ZNF genes & repeats Weak transcription Enhancers	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
abnormal development	18461090	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
Breast cancer	22522925	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74664800-74688200	Weak transcription	Psoas Muscle	Psoas
2	chr1:74665000-74690200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:74665600-74689200	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:74671200-74694800	Weak transcription	Left Ventricle	heart
5	chr1:74671400-74719400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:74671400-74751800	Weak transcription	Ovary	ovary
7	chr1:74672600-74688000	Weak transcription	Liver	Liver
8	chr1:74675800-74724000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr1:74686400-74687800	Weak transcription	Adipose Nuclei	Adipose
10	chr1:74686600-74689400	Enhancers	Stomach Mucosa	stomach
11	chr1:74686800-74687000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:74687200-74687600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:74688000-74688600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:74688200-74688400	Enhancers	A549	lung
15	chr1:74697800-74710600	Weak transcription	Psoas Muscle	Psoas
16	chr1:74699000-74700800	Enhancers	Fetal Heart	heart
17	chr1:74699200-74699600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:74700600-74713800	Weak transcription	Adipose Nuclei	Adipose
19	chr1:74700800-74701000	Flanking Active TSS	Fetal Heart	heart
20	chr1:74701000-74703400	Active TSS	Fetal Heart	heart
21	chr1:74701600-74704200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:74701600-74704200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:74701800-74705000	Active TSS	Right Atrium	heart
24	chr1:74702000-74702400	Active TSS	Right Ventricle	heart
25	chr1:74702200-74702600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:74702200-74703800	Active TSS	Left Ventricle	heart
27	chr1:74702400-74703200	Weak transcription	Right Ventricle	heart
28	chr1:74703200-74703800	Active TSS	Right Ventricle	heart
29	chr1:74703400-74703600	Transcr. at gene 5' and 3'	Fetal Heart	heart
30	chr1:74703600-74704200	Flanking Active TSS	Fetal Heart	heart

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