Variant report

Variant	nsv945714
Chromosome Location	chr1:45529328-45533650
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45524312..45527029-chr1:45527867..45530740,2	K562	blood:
2	chr1:45284099..45286041-chr1:45529730..45532603,2	K562	blood:

Variant related genes	Relation type
ENSG00000202444	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537515398	chr1:45529361-45529362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147303731	chr1:45529362-45529363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533833791	chr1:45529382-45529383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10789455	chr1:45529404-45529405	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs562938765	chr1:45529460-45529461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs199772436	chr1:45529472-45529473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6656325	chr1:45529510-45529511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535792101	chr1:45529578-45529579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191509669	chr1:45529579-45529580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372155819	chr1:45529617-45529618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4660835	chr1:45529627-45529628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs544695801	chr1:45529632-45529633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74706019	chr1:45529655-45529656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs78313807	chr1:45529656-45529657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs16832411	chr1:45529693-45529694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs183698422	chr1:45529697-45529698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540582132	chr1:45529756-45529757	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560290893	chr1:45529795-45529796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs68139854	chr1:45529804-45529805	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375887585	chr1:45529817-45529818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs373580137	chr1:45529825-45529826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528366639	chr1:45529833-45529834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs148400377	chr1:45529849-45529850	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs531432743	chr1:45529889-45529890	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs6702757	chr1:45529898-45529899	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571278892	chr1:45529900-45529901	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533652861	chr1:45529924-45529925	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547339119	chr1:45529972-45529973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs567164346	chr1:45529974-45529975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs189599176	chr1:45529992-45529993	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35565755	chr1:45530011-45530012	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs556122965	chr1:45530030-45530031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs530721439	chr1:45530056-45530057	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs181897784	chr1:45530196-45530197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs538480809	chr1:45530258-45530259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs371241591	chr1:45530273-45530274	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558394547	chr1:45530304-45530305	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs578012262	chr1:45530368-45530369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs550350207	chr1:45530381-45530382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115145161	chr1:45530411-45530412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372282706	chr1:45530437-45530438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554102713	chr1:45530487-45530488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs11211074	chr1:45530509-45530510	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs185464217	chr1:45530528-45530529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562491037	chr1:45530554-45530555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs6693384	chr1:45530572-45530573	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs544755961	chr1:45530573-45530574	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs564953711	chr1:45530603-45530604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527342492	chr1:45530679-45530680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs189988895	chr1:45530725-45530726	Weak transcription	Chromatin interactive region	1 gene(s)	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45524600-45532800	Weak transcription	Brain Substantia Nigra	brain
2	chr1:45525200-45534600	Weak transcription	Brain Angular Gyrus	brain
3	chr1:45525800-45558600	Weak transcription	HepG2	liver
4	chr1:45526000-45530200	Weak transcription	Fetal Brain Female	brain
5	chr1:45526200-45532000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:45526600-45532400	Weak transcription	Ovary	ovary
7	chr1:45532000-45532200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:45533000-45533600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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