Variant report

Variant	nsv524385
Chromosome Location	chr1:45488591-45491504
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	chr1:45483104..45484724-chr1:45490873..45492941,2	K562	blood:

Extended variants
information (count: 110 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6429555	chr1:45488591-45488592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373339045	chr1:45488592-45488593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35573627	chr1:45488620-45488621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189982567	chr1:45488625-45488626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11211067	chr1:45488626-45488627	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs528974582	chr1:45488661-45488662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542167384	chr1:45488685-45488686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546848143	chr1:45488812-45488813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566548918	chr1:45488835-45488836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529043414	chr1:45488862-45488863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549073991	chr1:45488909-45488910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568715239	chr1:45488912-45488913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537872415	chr1:45488967-45488968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554391113	chr1:45489040-45489041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557339814	chr1:45489108-45489109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7541351	chr1:45489110-45489111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs4660833	chr1:45489142-45489143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112968749	chr1:45489145-45489146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539623425	chr1:45489175-45489176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34813125	chr1:45489176-45489177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397705884	chr1:45489188-45489189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181619228	chr1:45489212-45489213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572992887	chr1:45489213-45489214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541917809	chr1:45489246-45489247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555833322	chr1:45489249-45489250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575521530	chr1:45489254-45489255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58980058	chr1:45489270-45489271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs76908768	chr1:45489307-45489308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375629044	chr1:45489330-45489331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150067553	chr1:45489362-45489363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547821257	chr1:45489380-45489381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540422480	chr1:45489429-45489430	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs185513452	chr1:45489441-45489442	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs529090755	chr1:45489472-45489473	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs72684412	chr1:45489474-45489475	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs368012528	chr1:45489538-45489539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs568951895	chr1:45489577-45489578	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs369270043	chr1:45489629-45489630	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs531192689	chr1:45489690-45489691	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs376788574	chr1:45489731-45489732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs370303887	chr1:45489791-45489792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372567244	chr1:45489819-45489820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376895421	chr1:45489864-45489865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59909524	chr1:45489879-45489880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369322201	chr1:45489880-45489881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550990467	chr1:45489884-45489885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189977288	chr1:45489886-45489887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12094272	chr1:45489893-45489894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs112275494	chr1:45489902-45489903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78229696	chr1:45489911-45489912	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45478600-45500000	Weak transcription	Aorta	Aorta
2	chr1:45479000-45493000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:45480800-45500000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:45480800-45500600	Weak transcription	HepG2	liver
5	chr1:45480800-45501200	Weak transcription	Fetal Brain Male	brain
6	chr1:45480800-45510400	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:45481200-45504600	Weak transcription	Colonic Mucosa	Colon
8	chr1:45481200-45510200	Weak transcription	Lung	lung
9	chr1:45481200-45525000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:45481200-45527400	Weak transcription	Left Ventricle	heart
11	chr1:45481400-45500000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:45481600-45489400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:45481600-45491800	Weak transcription	NHDF-Ad	bronchial
14	chr1:45481600-45498600	Weak transcription	Hela-S3	cervix
15	chr1:45481600-45499800	Weak transcription	Fetal Intestine Large	intestine
16	chr1:45481600-45499800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:45481800-45489600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:45481800-45491400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:45481800-45499800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:45482000-45490600	Weak transcription	Fetal Lung	lung
21	chr1:45482000-45523800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:45484200-45499800	Weak transcription	Fetal Stomach	stomach
23	chr1:45484400-45499200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:45484600-45488800	Weak transcription	Spleen	Spleen
25	chr1:45484600-45494800	Weak transcription	Right Atrium	heart
26	chr1:45484600-45499800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr1:45484800-45497800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:45484800-45499200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:45484800-45499400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr1:45484800-45499800	Weak transcription	Brain Angular Gyrus	brain
31	chr1:45484800-45499800	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:45485000-45499800	Weak transcription	Brain Substantia Nigra	brain
33	chr1:45485800-45501400	Weak transcription	Ovary	ovary
34	chr1:45486200-45489400	Weak transcription	Fetal Brain Female	brain
35	chr1:45486400-45496600	Weak transcription	Fetal Intestine Small	intestine
36	chr1:45486600-45499200	Weak transcription	Brain Anterior Caudate	brain
37	chr1:45487400-45498600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:45487400-45499200	Weak transcription	Brain Germinal Matrix	brain
39	chr1:45489400-45489800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:45489400-45489800	ZNF genes & repeats	Fetal Brain Female	brain
41	chr1:45489800-45491400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:45489800-45499800	Weak transcription	Fetal Brain Female	brain
43	chr1:45491200-45493000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:45491400-45492600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:45491400-45492600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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