Variant report

Variant	nsv583031
Chromosome Location	chr2:127732462-127758448
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127751023..127753651-chr2:127755367..127757675,2	MCF-7	breast:
2	chr2:127751023..127753651-chr2:127755367..127757675,2	MCF-7	breast:
3	chr2:127734864..127736973-chr2:127738271..127740388,2	MCF-7	breast:
4	chr2:127728843..127730664-chr2:127736005..127737630,2	MCF-7	breast:
5	chr2:127736911..127738756-chr2:127748182..127751040,2	K562	blood:
6	chr2:127734864..127736973-chr2:127738271..127740388,2	MCF-7	breast:
7	chr2:127736911..127738756-chr2:127748182..127751040,2	K562	blood:

Extended variants
information (count: 1106 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1106 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12999411	chr2:127732462-127732463	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs398088061	chr2:127732487-127732488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7608937	chr2:127732488-127732489	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116446537	chr2:127732509-127732510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553967097	chr2:127732510-127732511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577125618	chr2:127732530-127732531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541544846	chr2:127732550-127732551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192561966	chr2:127732558-127732559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184415489	chr2:127732563-127732564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4663085	chr2:127732588-127732589	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138284872	chr2:127732606-127732607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561130835	chr2:127732620-127732621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs530291919	chr2:127732628-127732629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188943929	chr2:127732639-127732640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7603137	chr2:127732666-127732667	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs7603151	chr2:127732697-127732698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577933051	chr2:127732716-127732717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372950296	chr2:127732763-127732764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560980778	chr2:127732764-127732765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552533325	chr2:127732770-127732771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs193059573	chr2:127732793-127732794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531353159	chr2:127732794-127732795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62157800	chr2:127732795-127732796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7592911	chr2:127732796-127732797	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs534043966	chr2:127732805-127732806	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs146125828	chr2:127732838-127732839	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs534909276	chr2:127732839-127732840	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs35003846	chr2:127732853-127732854	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs574388236	chr2:127732854-127732855	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs113181145	chr2:127732900-127732901	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs529201378	chr2:127732931-127732932	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs147427547	chr2:127732995-127732996	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs539602652	chr2:127733036-127733037	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs185044728	chr2:127733057-127733058	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs575687091	chr2:127733069-127733070	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs139487825	chr2:127733092-127733093	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs144996856	chr2:127733096-127733097	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs559095859	chr2:127733116-127733117	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs189034669	chr2:127733140-127733141	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs528032044	chr2:127733160-127733161	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs72980842	chr2:127733244-127733245	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373837026	chr2:127733257-127733258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147170206	chr2:127733277-127733278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs554363302	chr2:127733334-127733335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551084330	chr2:127733419-127733420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570977831	chr2:127733423-127733424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530507629	chr2:127733429-127733430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532708472	chr2:127733501-127733502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192332007	chr2:127733505-127733506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4662700	chr2:127733510-127733511	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127730000-127733000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr2:127730000-127733200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:127730000-127733600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:127730200-127733000	Weak transcription	Fetal Lung	lung
5	chr2:127730200-127733800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:127730200-127735600	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:127730400-127733600	Enhancers	HepG2	liver
8	chr2:127731000-127733000	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:127732000-127734400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:127732800-127733200	Bivalent Enhancer	Fetal Stomach	stomach
11	chr2:127733000-127733600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:127733000-127733800	Enhancers	Fetal Lung	lung
13	chr2:127733000-127734400	Enhancers	Fetal Muscle Leg	muscle
14	chr2:127733000-127734400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:127733200-127734200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr2:127733600-127733800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:127733600-127734000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:127733600-127734000	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:127733600-127734200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:127733600-127734200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr2:127733600-127734200	Enhancers	Placenta	Placenta
22	chr2:127733600-127734200	Flanking Active TSS	HepG2	liver
23	chr2:127733600-127734400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:127733600-127735800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:127733600-127737000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:127733800-127734000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:127733800-127734000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:127733800-127734000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:127733800-127734200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:127733800-127734200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:127733800-127734400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:127733800-127739000	Weak transcription	Fetal Lung	lung
33	chr2:127734000-127734400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr2:127734200-127734400	Enhancers	HepG2	liver
35	chr2:127734200-127734800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:127734200-127735600	Weak transcription	Brain Anterior Caudate	brain
37	chr2:127734400-127734800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:127734400-127734800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:127734400-127735600	Weak transcription	HepG2	liver
40	chr2:127734400-127739000	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:127734600-127736400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:127735000-127736200	Weak transcription	Brain Substantia Nigra	brain
43	chr2:127735600-127736000	Enhancers	HepG2	liver
44	chr2:127735600-127737600	Enhancers	Brain Angular Gyrus	brain
45	chr2:127735600-127738000	Enhancers	Brain Anterior Caudate	brain
46	chr2:127735600-127738000	Enhancers	Brain Hippocampus Middle	brain
47	chr2:127736000-127737600	Weak transcription	HepG2	liver
48	chr2:127736200-127736800	Enhancers	Brain Substantia Nigra	brain
49	chr2:127736400-127737200	Enhancers	Brain Cingulate Gyrus	brain
50	chr2:127736400-127738000	Enhancers	Brain Inferior Temporal Lobe	brain

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