Variant report

Variant	nsv583212
Chromosome Location	chr2:142263979-142309330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:142267758..142272921-chr2:142273064..142275767,4	MCF-7	breast:
2	chr2:142308972..142312076-chr2:142313360..142316898,3	K562	blood:
3	chr2:129063359..129065202-chr2:142304288..142305941,2	MCF-7	breast:
4	chr2:142288498..142290059-chr2:142292199..142295076,2	MCF-7	breast:
5	chr2:142259654..142261746-chr2:142265611..142267711,3	MCF-7	breast:
6	chr2:142303735..142305902-chr2:142307985..142310549,2	K562	blood:
7	chr2:142223533..142226548-chr2:142266133..142269163,3	MCF-7	breast:
8	chr2:142225007..142227143-chr2:142273674..142276575,2	MCF-7	breast:
9	chr2:142267758..142272921-chr2:142273064..142275767,4	MCF-7	breast:
10	chr2:142259034..142262033-chr2:142268324..142270584,3	MCF-7	breast:
11	chr2:142263240..142267352-chr2:142886657..142889435,3	MCF-7	breast:
12	chr2:142261934..142264280-chr2:142265309..142267485,3	MCF-7	breast:
13	chr2:142248367..142251172-chr2:142262537..142266743,4	MCF-7	breast:
14	chr11:62609066..62609640-chr2:142273282..142274142,2	NB4	blood:
15	chr2:142260948..142262730-chr2:142271665..142273452,2	MCF-7	breast:
16	chr2:142261934..142264280-chr2:142265309..142267485,3	MCF-7	breast:
17	chr2:142291504..142294290-chr2:142295014..142296558,2	MCF-7	breast:
18	chr2:142260415..142263091-chr2:142286815..142289016,3	MCF-7	breast:
19	chr2:142285408..142288288-chr2:142294613..142297064,2	MCF-7	breast:
20	chr2:142285408..142288288-chr2:142294613..142297064,2	MCF-7	breast:
21	chr2:142267530..142270120-chr2:142367084..142369508,2	MCF-7	breast:
22	chr2:142241833..142244486-chr2:142265674..142268047,2	MCF-7	breast:
23	chr2:142299065..142301455-chr2:142302719..142305386,2	MCF-7	breast:
24	chr2:142265321..142267918-chr2:142664161..142666622,2	MCF-7	breast:
25	chr2:142299065..142301455-chr2:142302719..142305386,2	MCF-7	breast:
26	chr2:142265220..142267079-chr2:142275773..142278354,2	MCF-7	breast:
27	chr2:142265220..142267079-chr2:142275773..142278354,2	MCF-7	breast:
28	chr2:142291504..142294290-chr2:142295014..142296558,2	MCF-7	breast:
29	chr2:142303735..142305902-chr2:142307985..142310549,2	K562	blood:
30	chr2:142288498..142290059-chr2:142292199..142295076,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168702	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 1548 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1548 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4260183	chr2:142263979-142263980	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs367817980	chr2:142263987-142263988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570880019	chr2:142264013-142264014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533796334	chr2:142264032-142264033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575912677	chr2:142264043-142264044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549228880	chr2:142264055-142264056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553346652	chr2:142264066-142264067	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191029337	chr2:142264100-142264101	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567616334	chr2:142264105-142264106	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541647457	chr2:142264121-142264122	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182407501	chr2:142264122-142264123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142947145	chr2:142264140-142264141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200580590	chr2:142264152-142264153	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575942839	chr2:142264177-142264178	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs151090433	chr2:142264190-142264191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4637042	chr2:142264226-142264227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375121043	chr2:142264260-142264261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs540625663	chr2:142264288-142264289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs34531296	chr2:142264290-142264291	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs4328578	chr2:142264292-142264293	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs573751522	chr2:142264307-142264308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs4482418	chr2:142264316-142264317	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs369783254	chr2:142264358-142264359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140153942	chr2:142264381-142264382	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs531422574	chr2:142264390-142264391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4482419	chr2:142264401-142264402	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12623095	chr2:142264421-142264422	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs13026480	chr2:142264450-142264451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145148034	chr2:142264454-142264455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs116359584	chr2:142264509-142264510	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547365427	chr2:142264556-142264557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs72851361	chr2:142264572-142264573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567191042	chr2:142264616-142264617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7579724	chr2:142264657-142264658	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116998767	chr2:142264681-142264682	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375674928	chr2:142264689-142264690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs6429898	chr2:142264718-142264719	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs7593653	chr2:142264731-142264732	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs578047504	chr2:142264761-142264762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540295593	chr2:142264841-142264842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13001306	chr2:142264846-142264847	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs147554149	chr2:142264854-142264855	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542487745	chr2:142264864-142264865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs79968402	chr2:142264877-142264878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376384645	chr2:142264915-142264916	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7593866	chr2:142264937-142264938	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs544804455	chr2:142264938-142264939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200191273	chr2:142264968-142264969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374348017	chr2:142264972-142264973	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs386391367	chr2:142264973-142264974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142247800-142266200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:142257800-142265800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:142258000-142265800	Weak transcription	Brain Substantia Nigra	brain
4	chr2:142262600-142264200	Enhancers	Fetal Brain Male	brain
5	chr2:142263400-142264000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:142263400-142264200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr2:142263600-142264000	Enhancers	Brain Hippocampus Middle	brain
8	chr2:142263600-142264000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr2:142264000-142265800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:142264000-142266600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:142264000-142268000	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:142264200-142266600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:142265800-142266600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:142265800-142266600	Enhancers	Brain Substantia Nigra	brain
15	chr2:142265800-142266800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:142266000-142267200	Enhancers	A549	lung
17	chr2:142266200-142267600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:142266200-142267600	Enhancers	Brain Anterior Caudate	brain
19	chr2:142266400-142267200	Enhancers	Brain Cingulate Gyrus	brain
20	chr2:142266600-142266800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:142266600-142266800	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr2:142266600-142267000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:142266600-142268800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr2:142266800-142267000	Enhancers	Brain Substantia Nigra	brain
25	chr2:142267000-142267200	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr2:142268000-142268200	Enhancers	Brain Hippocampus Middle	brain
27	chr2:142268800-142269000	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr2:142271000-142272200	Enhancers	GM12878-XiMat	blood
29	chr2:142273400-142274000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:142274000-142277000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:142274800-142275800	Active TSS	A549	lung
32	chr2:142274800-142275800	Enhancers	HepG2	liver
33	chr2:142276600-142277200	Enhancers	Brain Substantia Nigra	brain
34	chr2:142277000-142277800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:142277200-142277600	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr2:142277200-142277800	Enhancers	Brain Hippocampus Middle	brain
37	chr2:142277200-142279000	Enhancers	Brain Angular Gyrus	brain
38	chr2:142277200-142279000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:142277400-142278200	Enhancers	Brain Anterior Caudate	brain
40	chr2:142277400-142278200	Enhancers	Brain Cingulate Gyrus	brain
41	chr2:142277600-142278000	Enhancers	Brain Substantia Nigra	brain
42	chr2:142277600-142278400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:142277800-142278000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr2:142277800-142278600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:142278000-142278200	Enhancers	Brain Hippocampus Middle	brain
46	chr2:142278000-142278200	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr2:142278000-142278400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:142278200-142278400	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr2:142278200-142278600	Active TSS	Brain Anterior Caudate	brain
50	chr2:142278200-142279600	Weak transcription	Brain Cingulate Gyrus	brain

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