Variant report

Variant	nsv945917
Chromosome Location	chr1:45533650-45546555
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	CTCF	chr1:45545903-45545940	GM20000	blood:	n/a	n/a
2	CTCF	chr1:45543898-45543923	Spleen_OC	spleen:	n/a	n/a
3	IRF1	chr1:45545192-45545477	K562	blood:	n/a	n/a
4	IRF1	chr1:45545252-45545373	K562	blood:	n/a	n/a
5	IRF1	chr1:45545153-45545504	K562	blood:	n/a	n/a
6	JUND	chr1:45542764-45542883	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:45535978-45536089	MCF-7	breast:	n/a	n/a
8	POLR2A	chr1:45545726-45545742	A549	lung:	n/a	n/a
9	RUNX3	chr1:45537644-45537982	GM12878	blood:	n/a	n/a
10	SPI1	chr1:45546250-45546612	HL-60	blood:	n/a	chr1:45546423-45546432 chr1:45546421-45546434
11	STAT3	chr1:45541930-45541981	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr1:45539356-45539467	MCF10A-Er-Src	breast:	n/a	n/a
13	SUZ12	chr1:45544319-45544491	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UROD-2	chr1:45542169-45543877	refGeneNc_2327_NR_024270

Variant related genes	Relation type
OSTCP5	TF binding region

Extended variants
information (count: 411 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148927674	chr1:45533671-45533672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530275285	chr1:45533728-45533729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375840323	chr1:45533761-45533762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368619597	chr1:45533763-45533764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201003392	chr1:45533765-45533766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12724096	chr1:45533778-45533779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140513169	chr1:45533779-45533780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs397980074	chr1:45533792-45533793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143669989	chr1:45533819-45533820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541773784	chr1:45533855-45533856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559767236	chr1:45533861-45533862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528577549	chr1:45533876-45533877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552260956	chr1:45533894-45533895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566080805	chr1:45533901-45533902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183226650	chr1:45533983-45533984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554932641	chr1:45533988-45533989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568259568	chr1:45534010-45534011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537284927	chr1:45534040-45534041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72637956	chr1:45534067-45534068	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs576819497	chr1:45534128-45534129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564976904	chr1:45534163-45534164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34111213	chr1:45534168-45534169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397692747	chr1:45534180-45534181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552675950	chr1:45534201-45534202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572822723	chr1:45534212-45534213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541320989	chr1:45534217-45534218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188870589	chr1:45534244-45534245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561285158	chr1:45534266-45534267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530335201	chr1:45534419-45534420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543562873	chr1:45534447-45534448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373691338	chr1:45534458-45534459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35746804	chr1:45534461-45534462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72888922	chr1:45534512-45534513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs561331338	chr1:45534593-45534594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527316387	chr1:45534594-45534595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552673262	chr1:45534595-45534596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191621657	chr1:45534605-45534606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113160558	chr1:45534718-45534719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112725858	chr1:45534763-45534764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148104946	chr1:45534777-45534778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530709912	chr1:45534789-45534790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568322839	chr1:45534836-45534837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537348743	chr1:45534865-45534866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557167318	chr1:45534869-45534870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570657339	chr1:45534873-45534874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550489289	chr1:45534894-45534895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547286950	chr1:45534895-45534896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183552035	chr1:45534909-45534910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541383883	chr1:45534945-45534946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372958506	chr1:45534954-45534955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	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
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45525200-45534600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:45525800-45558600	Weak transcription	HepG2	liver
3	chr1:45537400-45545000	Weak transcription	Ovary	ovary
4	chr1:45541000-45546800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:45542200-45542400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:45542400-45544200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:45543400-45555400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:45543600-45546800	ZNF genes & repeats	Fetal Brain Female	brain
9	chr1:45543800-45562200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:45544200-45544400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:45544200-45544400	ZNF genes & repeats	Gastric	stomach
12	chr1:45544200-45544400	Active TSS	Pancreas	Pancrea
13	chr1:45544200-45545800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:45544200-45545800	ZNF genes & repeats	Fetal Stomach	stomach
15	chr1:45544200-45546600	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr1:45544200-45546800	ZNF genes & repeats	Brain Germinal Matrix	brain
17	chr1:45544400-45549200	Weak transcription	Gastric	stomach
18	chr1:45544400-45550000	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:45544400-45560200	Weak transcription	Pancreas	Pancrea
20	chr1:45544600-45552000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr1:45545000-45545400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:45545000-45545400	Bivalent/Poised TSS	K562	blood
23	chr1:45545000-45546000	Strong transcription	Ovary	ovary
24	chr1:45545000-45558200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:45545200-45545400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:45545200-45545600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr1:45545200-45546000	Enhancers	Spleen	Spleen
28	chr1:45545400-45545600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:45545600-45546000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:45545800-45546000	ZNF genes & repeats	Aorta	Aorta
31	chr1:45545800-45551400	Weak transcription	Fetal Stomach	stomach
32	chr1:45545800-45552000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr1:45546000-45549400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:45546000-45550600	Weak transcription	Aorta	Aorta
35	chr1:45546000-45554800	Weak transcription	Ovary	ovary

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