Variant report

Variant	nsv10206
Chromosome Location	chr1:57552955-57559110
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 260 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576831247	chr1:57552958-57552959	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546049511	chr1:57552974-57552975	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140151850	chr1:57552998-57552999	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531908136	chr1:57553009-57553010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77906130	chr1:57553026-57553027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567862	chr1:57553041-57553042	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs17114970	chr1:57553049-57553050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs547563494	chr1:57553053-57553054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570420673	chr1:57553054-57553055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539454996	chr1:57553057-57553058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550071599	chr1:57553100-57553101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61765272	chr1:57553114-57553115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527926508	chr1:57553144-57553145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569825789	chr1:57553187-57553188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113609546	chr1:57553265-57553266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535773175	chr1:57553269-57553270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555260317	chr1:57553304-57553305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35295870	chr1:57553311-57553312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149848142	chr1:57553313-57553314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373826374	chr1:57553321-57553322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs35241879	chr1:57553348-57553349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374765672	chr1:57553351-57553352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186303995	chr1:57553413-57553414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35105800	chr1:57553431-57553432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576793993	chr1:57553512-57553513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191268565	chr1:57553544-57553545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545818011	chr1:57553551-57553552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34805576	chr1:57553563-57553564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35488524	chr1:57553572-57553573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35617951	chr1:57553585-57553586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183536875	chr1:57553590-57553591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576647476	chr1:57553598-57553599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542551587	chr1:57553601-57553602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562140858	chr1:57553621-57553622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527893779	chr1:57553622-57553623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541092313	chr1:57553633-57553634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551076308	chr1:57553634-57553635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564190618	chr1:57553640-57553641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533088021	chr1:57553683-57553684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34727079	chr1:57553715-57553716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35343909	chr1:57553727-57553728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187465856	chr1:57553729-57553730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145881159	chr1:57553775-57553776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369369971	chr1:57553798-57553799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35522019	chr1:57553809-57553810	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs549261944	chr1:57553812-57553813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142757809	chr1:57553813-57553814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35118752	chr1:57553822-57553823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35989551	chr1:57553836-57553837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534526054	chr1:57553838-57553839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
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
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
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
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57544000-57555000	Weak transcription	Left Ventricle	heart
2	chr1:57548000-57553000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:57548000-57553400	Enhancers	Ovary	ovary
4	chr1:57548800-57553000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:57548800-57566600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:57549000-57555200	Weak transcription	Right Atrium	heart
7	chr1:57549200-57554600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:57549600-57556000	Weak transcription	Right Ventricle	heart
9	chr1:57549600-57566600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:57550200-57555400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:57550400-57553400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:57551400-57622000	Weak transcription	Fetal Intestine Small	intestine
13	chr1:57552000-57553400	Enhancers	Fetal Heart	heart
14	chr1:57552200-57553000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:57552600-57553000	Strong transcription	Fetal Intestine Large	intestine
16	chr1:57552600-57553000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:57552800-57553200	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:57553000-57554400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:57553000-57557800	Weak transcription	Fetal Intestine Large	intestine
20	chr1:57553200-57554000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:57553400-57554400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:57553400-57554400	Weak transcription	Fetal Heart	heart
23	chr1:57553400-57555600	Weak transcription	Ovary	ovary
24	chr1:57554000-57554200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr1:57554400-57555200	Enhancers	Fetal Heart	heart
26	chr1:57554400-57556000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:57554400-57556800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:57554600-57556600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:57555000-57555400	Enhancers	Left Ventricle	heart
30	chr1:57555200-57555400	Flanking Active TSS	Fetal Heart	heart
31	chr1:57555200-57555400	Enhancers	Right Atrium	heart
32	chr1:57555400-57556000	Weak transcription	Right Atrium	heart
33	chr1:57555400-57556200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:57555400-57556400	Weak transcription	Left Ventricle	heart
35	chr1:57555400-57560200	Enhancers	Fetal Heart	heart
36	chr1:57555600-57556000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:57555600-57556000	Enhancers	Ovary	ovary
38	chr1:57555600-57556200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:57555600-57556400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:57556000-57556800	Enhancers	Right Atrium	heart
41	chr1:57556000-57556800	Enhancers	Right Ventricle	heart
42	chr1:57556000-57560000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:57556400-57556800	Enhancers	Left Ventricle	heart
44	chr1:57556800-57558600	Weak transcription	Left Ventricle	heart
45	chr1:57556800-57558800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:57556800-57568800	Weak transcription	Right Atrium	heart
47	chr1:57557800-57558000	Enhancers	Fetal Intestine Large	intestine
48	chr1:57558000-57564800	Weak transcription	Fetal Intestine Large	intestine
49	chr1:57558600-57559000	Enhancers	Left Ventricle	heart
50	chr1:57558800-57560200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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