Variant report

Variant	nsv459607
Chromosome Location	chr2:142226768-142263400
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:142259034..142262033-chr2:142268324..142270584,3	MCF-7	breast:
2	chr2:142260948..142262730-chr2:142271665..142273452,2	MCF-7	breast:
3	chr2:142224840..142226819-chr2:142260426..142263186,2	MCF-7	breast:
4	chr2:142224840..142226819-chr2:142260426..142263186,2	MCF-7	breast:
5	chr2:142225007..142227143-chr2:142273674..142276575,2	MCF-7	breast:
6	chr2:142259500..142260427-chr2:142322823..142323400,2	MCF-7	breast:
7	chr2:142260415..142263091-chr2:142286815..142289016,3	MCF-7	breast:
8	chr2:142248367..142251172-chr2:142262537..142266743,4	MCF-7	breast:
9	chr2:142263240..142267352-chr2:142886657..142889435,3	MCF-7	breast:
10	chr2:142257639..142260616-chr2:142261708..142263676,2	MCF-7	breast:
11	chr2:142261934..142264280-chr2:142265309..142267485,3	MCF-7	breast:
12	chr2:142229576..142232084-chr2:142232703..142234268,2	MCF-7	breast:
13	chr2:142257639..142260616-chr2:142261708..142263676,2	MCF-7	breast:
14	chr2:142224514..142226282-chr2:142227850..142230425,2	MCF-7	breast:
15	chr2:142259654..142261746-chr2:142265611..142267711,3	MCF-7	breast:
16	chr2:142248367..142251172-chr2:142262537..142266743,4	MCF-7	breast:
17	chr2:142241833..142244486-chr2:142265674..142268047,2	MCF-7	breast:
18	chr2:142229576..142232084-chr2:142232703..142234268,2	MCF-7	breast:
19	chr2:142152511..142154867-chr2:142224989..142226849,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168702	chromatin interactions

Extended variants
information (count: 1647 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1647 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386651241	chr2:142226768-142226769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115595444	chr2:142226769-142226770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6718919	chr2:142226779-142226780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs111990945	chr2:142226780-142226781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6719026	chr2:142226832-142226833	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs60727330	chr2:142226848-142226849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142424249	chr2:142226849-142226850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576738186	chr2:142226854-142226855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35582994	chr2:142226953-142226954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35290295	chr2:142226967-142226968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181488822	chr2:142226975-142226976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566623422	chr2:142226990-142226991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545608579	chr2:142227038-142227039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146519259	chr2:142227070-142227071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10548288	chr2:142227074-142227075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370108217	chr2:142227095-142227096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576246639	chr2:142227098-142227099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs3935991	chr2:142227124-142227125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs6429886	chr2:142227160-142227161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573424246	chr2:142227188-142227189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561423214	chr2:142227194-142227195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187033574	chr2:142227259-142227260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550464054	chr2:142227261-142227262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561869011	chr2:142227273-142227274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147587460	chr2:142227294-142227295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538999489	chr2:142227300-142227301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573665394	chr2:142227321-142227322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566154109	chr2:142227323-142227324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62166278	chr2:142227336-142227337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs554345438	chr2:142227350-142227351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142011640	chr2:142227355-142227356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537084266	chr2:142227356-142227357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs3935992	chr2:142227359-142227360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs576798872	chr2:142227373-142227374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191873858	chr2:142227381-142227382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72989033	chr2:142227385-142227386	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs144317953	chr2:142227393-142227394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184083564	chr2:142227457-142227458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4131524	chr2:142227485-142227486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs187381127	chr2:142227487-142227488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544157976	chr2:142227537-142227538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4401160	chr2:142227602-142227603	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs564078079	chr2:142227614-142227615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs5834832	chr2:142227624-142227625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532443302	chr2:142227664-142227665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375175452	chr2:142227678-142227679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552541023	chr2:142227739-142227740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3936045	chr2:142227759-142227760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs528320592	chr2:142227779-142227780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528574247	chr2:142227814-142227815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142225000-142227000	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr2:142225600-142227000	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:142227000-142238000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:142229200-142239000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:142230600-142231400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:142231400-142236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:142236600-142239400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:142237200-142237400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:142237400-142238400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:142238000-142238200	Enhancers	Brain Substantia Nigra	brain
11	chr2:142238000-142239400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:142238400-142239400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:142239000-142239200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:142239200-142239400	Genic enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:142239400-142256400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:142247400-142249600	Enhancers	Brain Angular Gyrus	brain
17	chr2:142247400-142249600	Enhancers	Brain Substantia Nigra	brain
18	chr2:142247600-142247800	Enhancers	Brain Anterior Caudate	brain
19	chr2:142247800-142249400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr2:142247800-142249600	Enhancers	Brain Hippocampus Middle	brain
21	chr2:142247800-142266200	Weak transcription	Brain Anterior Caudate	brain
22	chr2:142248000-142249600	Enhancers	Brain Cingulate Gyrus	brain
23	chr2:142248200-142250000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:142248200-142250200	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:142248600-142249000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:142248600-142249200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:142248600-142249600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:142248600-142250000	Enhancers	NH-A	brain
29	chr2:142248800-142249800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:142249000-142249400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:142249000-142249600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:142249000-142249600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:142249200-142251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:142249400-142249600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:142249400-142251400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:142249600-142254800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:142249600-142257600	Weak transcription	Brain Substantia Nigra	brain
38	chr2:142249800-142251000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:142250000-142255000	Weak transcription	NH-A	brain
40	chr2:142250200-142254800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:142251000-142251800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:142251000-142251800	Enhancers	Esophagus	oesophagus
43	chr2:142251600-142251800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:142252800-142255000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:142254200-142255600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:142254400-142255400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:142254400-142256000	Enhancers	Dnd41	blood
48	chr2:142254600-142255400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr2:142254800-142255400	Enhancers	Primary hematopoietic stem cells	blood
50	chr2:142254800-142255600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links