Variant report

Variant	nsv870471
Chromosome Location	chr1:92568263-92604114
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	ATF1	chr1:92591884-92591960	K562	blood:	n/a	n/a
2	CEBPB	chr1:92573101-92573256	HepG2	liver:	n/a	chr1:92573212-92573223
3	CTCF	chr1:92580959-92580986	GM13977	blood:	n/a	n/a
4	CTCF	chr1:92591671-92591733	GM13976	blood:	n/a	n/a
5	ELF1	chr1:92579091-92579275	K562	blood:	n/a	n/a
6	EP300	chr1:92575231-92575319	K562	blood:	n/a	n/a
7	FOS	chr1:92584476-92584743	HUVEC	blood vessel:	n/a	chr1:92584594-92584605
8	FOS	chr1:92584440-92584765	MCF10A-Er-Src	breast:	n/a	chr1:92584594-92584605
9	FOS	chr1:92584440-92584747	MCF10A-Er-Src	breast:	n/a	chr1:92584594-92584605
10	FOS	chr1:92584435-92584766	MCF10A-Er-Src	breast:	n/a	chr1:92584594-92584605
11	FOS	chr1:92584462-92584766	MCF10A-Er-Src	breast:	n/a	chr1:92584594-92584605
12	FOSL1	chr1:92584378-92584846	HCT-116	colon:	n/a	n/a
13	GATA1	chr1:92589085-92589769	PBDE	blood:	n/a	n/a
14	GATA3	chr1:92571540-92571896	SH-SY5Y	brain:	n/a	n/a
15	IRF1	chr1:92584203-92584248	K562	blood:	n/a	n/a
16	JUND	chr1:92584494-92584656	K562	blood:	n/a	n/a
17	JUND	chr1:92591750-92591969	K562	blood:	n/a	n/a
18	MAFF	chr1:92583088-92583455	HepG2	liver:	n/a	chr1:92583263-92583281
19	MAFF	chr1:92583077-92583458	K562	blood:	n/a	chr1:92583263-92583281
20	MAFK	chr1:92583090-92583461	IMR90	lung:	n/a	chr1:92583265-92583280
21	MAFK	chr1:92583082-92583455	H1-hESC	embryonic stem cell:	n/a	chr1:92583265-92583280
22	MAFK	chr1:92583093-92583462	Hela-S3	cervix:	n/a	chr1:92583265-92583280
23	MAFK	chr1:92583089-92583461	HepG2	liver:	n/a	chr1:92583265-92583280
24	MAFK	chr1:92583090-92583461	K562	blood:	n/a	chr1:92583265-92583280
25	MAFK	chr1:92583114-92583462	HepG2	liver:	n/a	chr1:92583265-92583280
26	MAZ	chr1:92602614-92602742	HepG2	liver:	n/a	n/a
27	NFYB	chr1:92581264-92581393	GM12878	blood:	n/a	n/a
28	NR2F2	chr1:92579060-92579300	K562	blood:	n/a	n/a
29	POLR2A	chr1:92580806-92581015	Gliobla	brain:	n/a	n/a
30	POLR2A	chr1:92580402-92580558	K562	blood:	n/a	n/a
31	POLR2A	chr1:92579424-92579530	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr1:92579036-92579087	GM12878	blood:	n/a	n/a
33	POLR2A	chr1:92573683-92573691	A549	lung:	n/a	n/a
34	POLR2A	chr1:92577823-92577840	Gliobla	brain:	n/a	n/a
35	POLR2A	chr1:92572393-92572413	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr1:92569715-92569750	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr1:92600650-92600795	GM12878	blood:	n/a	n/a
38	POLR2A	chr1:92602374-92602469	K562	blood:	n/a	n/a
39	POLR2A	chr1:92580529-92580633	GM12878	blood:	n/a	n/a
40	POLR2A	chr1:92578031-92578186	GM12878	blood:	n/a	n/a
41	SPI1	chr1:92583995-92584327	HL-60	blood:	n/a	n/a
42	SPI1	chr1:92583876-92584337	HL-60	blood:	n/a	n/a
43	SRF	chr1:92571199-92571592	ECC-1	luminal epithelium:	n/a	chr1:92571425-92571443
44	SRF	chr1:92571277-92571515	K562	blood:	n/a	chr1:92571425-92571443
45	SRF	chr1:92571209-92571585	MCF-7	breast:	n/a	chr1:92571425-92571443
46	SRF	chr1:92571312-92571559	K562	blood:	n/a	chr1:92571425-92571443
47	SRF	chr1:92571339-92571529	HepG2	liver:	n/a	chr1:92571425-92571443
48	SRF	chr1:92571225-92571510	H1-hESC	embryonic stem cell:	n/a	chr1:92571425-92571443
49	STAT3	chr1:92599055-92599104	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr1:92574760-92574791	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92597223..92599261-chr1:92601215..92603024,2	K562	blood:
2	chr1:92597223..92599261-chr1:92601215..92603024,2	K562	blood:

Variant related genes	Relation type
GAPDHP46	TF binding region
PRKAR1AP	TF binding region

Extended variants
information (count: 1353 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1353 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527412	chr1:92568263-92568264	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547474408	chr1:92568323-92568324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544794583	chr1:92568364-92568365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35450653	chr1:92568375-92568376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559874260	chr1:92568377-92568378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138920279	chr1:92568394-92568395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6704121	chr1:92568456-92568457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540339552	chr1:92568463-92568464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35922562	chr1:92568470-92568471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35515112	chr1:92568472-92568473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562127671	chr1:92568544-92568545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529254930	chr1:92568555-92568556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551322404	chr1:92568596-92568597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549600905	chr1:92568613-92568614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569565334	chr1:92568733-92568734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563143142	chr1:92568743-92568744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142257765	chr1:92568748-92568749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531802662	chr1:92568762-92568763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552009421	chr1:92568774-92568775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183648265	chr1:92568796-92568797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373346210	chr1:92568825-92568826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376256849	chr1:92568838-92568839	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551488983	chr1:92568844-92568845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574535606	chr1:92568851-92568852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533905170	chr1:92568852-92568853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571233167	chr1:92568891-92568892	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6660858	chr1:92568895-92568896	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537446231	chr1:92568941-92568942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556079079	chr1:92568945-92568946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186679868	chr1:92568976-92568977	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538498089	chr1:92569103-92569104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147131139	chr1:92569108-92569109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572110677	chr1:92569196-92569197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540753554	chr1:92569259-92569260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562018088	chr1:92569280-92569281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560871575	chr1:92569287-92569288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532579003	chr1:92569299-92569300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574023598	chr1:92569320-92569321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139397941	chr1:92569343-92569344	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191232981	chr1:92569349-92569350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149886678	chr1:92569381-92569382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533691661	chr1:92569388-92569389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs495446	chr1:92569420-92569421	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs2128644	chr1:92569435-92569436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560773604	chr1:92569464-92569465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527861466	chr1:92569475-92569476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549110623	chr1:92569542-92569543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143866597	chr1:92569562-92569563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537507245	chr1:92569569-92569570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184146564	chr1:92569574-92569575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92552000-92577400	Weak transcription	Fetal Brain Male	brain
2	chr1:92552200-92580400	Weak transcription	Aorta	Aorta
3	chr1:92552200-92583800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:92552400-92586000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:92552400-92595200	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:92552600-92568800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:92552600-92568800	Weak transcription	Fetal Lung	lung
8	chr1:92552600-92568800	Weak transcription	Placenta	Placenta
9	chr1:92552600-92568800	Weak transcription	Dnd41	blood
10	chr1:92552600-92579200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:92552600-92582400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:92552600-92590000	Weak transcription	Brain Angular Gyrus	brain
13	chr1:92552600-92591600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:92552600-92613400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:92552800-92569800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:92552800-92579000	Weak transcription	Psoas Muscle	Psoas
17	chr1:92552800-92613600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:92553000-92570000	Weak transcription	Fetal Intestine Large	intestine
19	chr1:92553200-92576600	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:92553800-92575800	Weak transcription	Fetal Kidney	kidney
21	chr1:92554400-92583200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:92555200-92580400	Weak transcription	Fetal Intestine Small	intestine
23	chr1:92555200-92620400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:92555400-92573400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:92555400-92580400	Weak transcription	Ovary	ovary
26	chr1:92555800-92568800	Weak transcription	Brain Germinal Matrix	brain
27	chr1:92555800-92576000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:92556000-92613600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:92556600-92613400	Weak transcription	Fetal Brain Female	brain
30	chr1:92557000-92571800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:92557400-92598000	Weak transcription	Spleen	Spleen
32	chr1:92558000-92583000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:92558000-92604000	Weak transcription	Left Ventricle	heart
34	chr1:92560000-92613600	Weak transcription	Brain Anterior Caudate	brain
35	chr1:92560400-92580400	Weak transcription	Lung	lung
36	chr1:92560600-92573600	Weak transcription	Right Ventricle	heart
37	chr1:92560600-92590800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr1:92561000-92573600	Weak transcription	Fetal Heart	heart
39	chr1:92561200-92619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:92561600-92568400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:92561600-92590000	Weak transcription	Brain Substantia Nigra	brain
42	chr1:92562000-92571000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:92562200-92568800	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:92562600-92569200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:92562600-92582800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:92562800-92575000	Weak transcription	Primary T cells from cord blood	blood
47	chr1:92563000-92573200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr1:92565400-92568400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:92565600-92570600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:92565600-92575200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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