Variant report

Variant	nsv470717
Chromosome Location	chr1:74445584-74532587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:74471005..74474027-chr1:74475988..74480230,3	K562	blood:
2	chr1:74531200..74533536-chr1:74537407..74539060,2	K562	blood:
3	chr1:74471005..74474027-chr1:74475988..74480230,3	K562	blood:
4	chr1:74532016..74533642-chr1:74533739..74535417,2	MCF-7	breast:

Extended variants
information (count: 681 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:681 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10890101	chr1:74445584-74445585	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548510818	chr1:74445590-74445591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551280862	chr1:74445624-74445625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2880560	chr1:74445650-74445651	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs563268899	chr1:74445669-74445670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112732874	chr1:74445674-74445675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188252888	chr1:74445703-74445704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182027193	chr1:74445811-74445812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75516013	chr1:74445832-74445833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528264986	chr1:74445849-74445850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546529188	chr1:74445865-74445866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571190270	chr1:74445881-74445882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370121493	chr1:74445887-74445888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187237467	chr1:74445904-74445905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6703761	chr1:74445923-74445924	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569199710	chr1:74445961-74445962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536357110	chr1:74445969-74445970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372021960	chr1:74446001-74446002	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs192030986	chr1:74446027-74446028	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs573516909	chr1:74446037-74446038	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs534378114	chr1:74446139-74446140	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs114738840	chr1:74446166-74446167	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs369241250	chr1:74446171-74446172	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577491262	chr1:74446199-74446200	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs181609363	chr1:74446255-74446256	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs148606785	chr1:74446303-74446304	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs563149619	chr1:74446329-74446330	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs7556283	chr1:74446343-74446344	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs568694082	chr1:74446352-74446353	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560638252	chr1:74446385-74446386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs528303695	chr1:74446411-74446412	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs142087748	chr1:74446446-74446447	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs78544019	chr1:74446511-74446512	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs532318937	chr1:74446531-74446532	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs550810893	chr1:74446550-74446551	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs151220137	chr1:74446608-74446609	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs530097122	chr1:74446647-74446648	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs5775219	chr1:74446652-74446653	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs398102880	chr1:74446653-74446654	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs2880561	chr1:74446654-74446655	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs139606572	chr1:74446655-74446656	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs11450152	chr1:74446662-74446663	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs566950319	chr1:74446671-74446672	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs534259768	chr1:74446732-74446733	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs559212746	chr1:74446790-74446791	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570987310	chr1:74446795-74446796	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs186130156	chr1:74446820-74446821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556811393	chr1:74446825-74446826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140361560	chr1:74446827-74446828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145299682	chr1:74446862-74446863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
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
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
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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74444800-74445600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:74444800-74446000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:74444800-74446400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:74444800-74446400	Enhancers	Brain Hippocampus Middle	brain
5	chr1:74444800-74446600	Enhancers	Brain Substantia Nigra	brain
6	chr1:74445000-74445800	Enhancers	Brain Angular Gyrus	brain
7	chr1:74445000-74447000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:74445400-74445800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:74445400-74446600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:74445400-74446600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:74445400-74447200	Enhancers	Fetal Heart	heart
12	chr1:74445400-74447200	Enhancers	Fetal Intestine Large	intestine
13	chr1:74445400-74447200	Enhancers	Fetal Intestine Small	intestine
14	chr1:74445600-74446200	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:74445600-74446400	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr1:74445600-74446600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:74445600-74449200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:74446000-74446800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:74446000-74447000	Enhancers	Duodenum Mucosa	Duodenum
20	chr1:74446200-74447000	Enhancers	Stomach Mucosa	stomach
21	chr1:74446400-74447000	Enhancers	HSMMtube	muscle
22	chr1:74446800-74447200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:74447000-74448000	Weak transcription	Stomach Mucosa	stomach
24	chr1:74447000-74448400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:74447200-74448200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:74447200-74448400	Weak transcription	Fetal Intestine Large	intestine
27	chr1:74447200-74450000	Weak transcription	Fetal Heart	heart
28	chr1:74448200-74448400	Enhancers	Stomach Mucosa	stomach
29	chr1:74448200-74449200	Enhancers	Fetal Intestine Small	intestine
30	chr1:74448400-74448600	Enhancers	Duodenum Mucosa	Duodenum
31	chr1:74448400-74449000	Enhancers	Fetal Intestine Large	intestine
32	chr1:74463200-74463600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:74463400-74464200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:74463400-74464800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:74464000-74465400	Enhancers	Fetal Heart	heart
36	chr1:74465000-74465200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr1:74465200-74466200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:74466200-74466400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:74466400-74467400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:74467200-74469600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr1:74467400-74467600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr1:74467600-74468000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr1:74468000-74468600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr1:74468600-74468800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr1:74468800-74469400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr1:74469400-74470200	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:74469600-74470600	Enhancers	Fetal Heart	heart
48	chr1:74469800-74471200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:74470200-74470600	Enhancers	Fetal Stomach	stomach
50	chr1:74470200-74471400	Enhancers	HUES6 Cell Line	embryonic stem cell

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