Variant report

Variant	nsv871948
Chromosome Location	chr1:92574745-92607997
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	CTCF	chr1:92580959-92580986	GM13977	blood:	n/a	n/a
3	CTCF	chr1:92591671-92591733	GM13976	blood:	n/a	n/a
4	ELF1	chr1:92579091-92579275	K562	blood:	n/a	n/a
5	EP300	chr1:92575231-92575319	K562	blood:	n/a	n/a
6	FOS	chr1:92584440-92584765	MCF10A-Er-Src	breast:	n/a	chr1:92584594-92584605
7	FOS	chr1:92584476-92584743	HUVEC	blood vessel:	n/a	chr1:92584594-92584605
8	FOS	chr1:92584440-92584747	MCF10A-Er-Src	breast:	n/a	chr1:92584594-92584605
9	FOS	chr1:92584462-92584766	MCF10A-Er-Src	breast:	n/a	chr1:92584594-92584605
10	FOS	chr1:92584435-92584766	MCF10A-Er-Src	breast:	n/a	chr1:92584594-92584605
11	FOSL1	chr1:92584378-92584846	HCT-116	colon:	n/a	n/a
12	GATA1	chr1:92589085-92589769	PBDE	blood:	n/a	n/a
13	IRF1	chr1:92584203-92584248	K562	blood:	n/a	n/a
14	JUND	chr1:92591750-92591969	K562	blood:	n/a	n/a
15	JUND	chr1:92584494-92584656	K562	blood:	n/a	n/a
16	MAFF	chr1:92583077-92583458	K562	blood:	n/a	chr1:92583263-92583281
17	MAFF	chr1:92583088-92583455	HepG2	liver:	n/a	chr1:92583263-92583281
18	MAFK	chr1:92583093-92583462	Hela-S3	cervix:	n/a	chr1:92583265-92583280
19	MAFK	chr1:92583082-92583455	H1-hESC	embryonic stem cell:	n/a	chr1:92583265-92583280
20	MAFK	chr1:92583090-92583461	IMR90	lung:	n/a	chr1:92583265-92583280
21	MAFK	chr1:92583090-92583461	K562	blood:	n/a	chr1:92583265-92583280
22	MAFK	chr1:92583114-92583462	HepG2	liver:	n/a	chr1:92583265-92583280
23	MAFK	chr1:92583089-92583461	HepG2	liver:	n/a	chr1:92583265-92583280
24	MAZ	chr1:92602614-92602742	HepG2	liver:	n/a	n/a
25	NFYB	chr1:92581264-92581393	GM12878	blood:	n/a	n/a
26	NR2F2	chr1:92579060-92579300	K562	blood:	n/a	n/a
27	POLR2A	chr1:92606818-92606856	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr1:92577823-92577840	Gliobla	brain:	n/a	n/a
29	POLR2A	chr1:92580402-92580558	K562	blood:	n/a	n/a
30	POLR2A	chr1:92580529-92580633	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:92579036-92579087	GM12878	blood:	n/a	n/a
32	POLR2A	chr1:92602374-92602469	K562	blood:	n/a	n/a
33	POLR2A	chr1:92579424-92579530	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr1:92600650-92600795	GM12878	blood:	n/a	n/a
35	POLR2A	chr1:92580806-92581015	Gliobla	brain:	n/a	n/a
36	POLR2A	chr1:92578031-92578186	GM12878	blood:	n/a	n/a
37	SPI1	chr1:92583876-92584337	HL-60	blood:	n/a	n/a
38	SPI1	chr1:92583995-92584327	HL-60	blood:	n/a	n/a
39	STAT3	chr1:92584557-92584639	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT3	chr1:92599055-92599104	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr1:92590808-92590948	MCF10A-Er-Src	breast:	n/a	n/a
42	STAT3	chr1:92574760-92574791	MCF10A-Er-Src	breast:	n/a	n/a
43	TAL1	chr1:92591384-92591418	K562	blood:	n/a	n/a
44	TEAD4	chr1:92591589-92591952	K562	blood:	n/a	n/a
45	WRNIP1	chr1:92600028-92600068	GM12878	blood:	n/a	n/a
46	ZNF384	chr1:92584817-92584928	K562	blood:	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: 1247 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1247 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4658128	chr1:92574745-92574746	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs115111997	chr1:92574756-92574757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368182571	chr1:92574809-92574810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77374096	chr1:92574823-92574824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs186547902	chr1:92574858-92574859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142196076	chr1:92574870-92574871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35795003	chr1:92574876-92574877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564540132	chr1:92574933-92574934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs192961907	chr1:92574936-92574937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116437911	chr1:92574940-92574941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368287314	chr1:92574962-92574963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562358036	chr1:92574975-92574976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565930723	chr1:92574977-92574978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534789073	chr1:92574986-92574987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529570859	chr1:92575008-92575009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554342333	chr1:92575017-92575018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569443551	chr1:92575020-92575021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116307816	chr1:92575048-92575049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567728161	chr1:92575063-92575064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574605204	chr1:92575129-92575130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536671544	chr1:92575168-92575169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372158730	chr1:92575191-92575192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184571797	chr1:92575198-92575199	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533547624	chr1:92575200-92575201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74331877	chr1:92575234-92575235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72956838	chr1:92575265-92575266	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs4623754	chr1:92575278-92575279	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs151039470	chr1:92575313-92575314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577400602	chr1:92575337-92575338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190278643	chr1:92575346-92575347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558818841	chr1:92575367-92575368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564421030	chr1:92575412-92575413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192884901	chr1:92575433-92575434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572330984	chr1:92575444-92575445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs481677	chr1:92575457-92575458	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562015216	chr1:92575495-92575496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529635506	chr1:92575508-92575509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560673472	chr1:92575545-92575546	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577424215	chr1:92575584-92575585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140918334	chr1:92575598-92575599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563107335	chr1:92575608-92575609	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144962378	chr1:92575631-92575632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371470960	chr1:92575665-92575666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551497174	chr1:92575679-92575680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566456077	chr1:92575681-92575682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35157676	chr1:92575711-92575712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529709950	chr1:92575758-92575759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533840181	chr1:92575779-92575780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546465538	chr1:92575812-92575813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548593999	chr1:92575827-92575828	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:202 , 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	chr1:92552600-92579200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:92552600-92582400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:92552600-92590000	Weak transcription	Brain Angular Gyrus	brain
9	chr1:92552600-92591600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:92552600-92613400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:92552800-92579000	Weak transcription	Psoas Muscle	Psoas
12	chr1:92552800-92613600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:92553200-92576600	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:92553800-92575800	Weak transcription	Fetal Kidney	kidney
15	chr1:92554400-92583200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:92555200-92580400	Weak transcription	Fetal Intestine Small	intestine
17	chr1:92555200-92620400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:92555400-92580400	Weak transcription	Ovary	ovary
19	chr1:92555800-92576000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:92556000-92613600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:92556600-92613400	Weak transcription	Fetal Brain Female	brain
22	chr1:92557400-92598000	Weak transcription	Spleen	Spleen
23	chr1:92558000-92583000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:92558000-92604000	Weak transcription	Left Ventricle	heart
25	chr1:92560000-92613600	Weak transcription	Brain Anterior Caudate	brain
26	chr1:92560400-92580400	Weak transcription	Lung	lung
27	chr1:92560600-92590800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:92561200-92619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:92561600-92590000	Weak transcription	Brain Substantia Nigra	brain
30	chr1:92562600-92582800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:92562800-92575000	Weak transcription	Primary T cells from cord blood	blood
32	chr1:92565600-92575200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:92565600-92583000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:92567200-92624200	Weak transcription	Fetal Stomach	stomach
35	chr1:92567400-92618000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:92567600-92580400	Weak transcription	Pancreas	Pancrea
37	chr1:92567600-92581600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr1:92567800-92577400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:92568000-92583200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr1:92568200-92616400	Weak transcription	Colon Smooth Muscle	Colon
41	chr1:92568600-92577600	Weak transcription	Gastric	stomach
42	chr1:92569400-92595600	Weak transcription	Brain Germinal Matrix	brain
43	chr1:92569600-92583000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:92569800-92578000	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:92569800-92613600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:92570000-92619600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:92570400-92589400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:92570800-92594800	Weak transcription	Fetal Intestine Large	intestine
49	chr1:92571800-92601600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:92571800-92613400	Weak transcription	Dnd41	blood

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