Variant report

Variant	nsv583209
Chromosome Location	chr2:142246988-142263746
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:142261934..142264280-chr2:142265309..142267485,3	MCF-7	breast:
2	chr2:142248367..142251172-chr2:142262537..142266743,4	MCF-7	breast:
3	chr2:142257639..142260616-chr2:142261708..142263676,2	MCF-7	breast:
4	chr2:142259654..142261746-chr2:142265611..142267711,3	MCF-7	breast:
5	chr2:142263240..142267352-chr2:142886657..142889435,3	MCF-7	breast:
6	chr2:142260415..142263091-chr2:142286815..142289016,3	MCF-7	breast:
7	chr2:142259500..142260427-chr2:142322823..142323400,2	MCF-7	breast:
8	chr2:142248367..142251172-chr2:142262537..142266743,4	MCF-7	breast:
9	chr2:142259034..142262033-chr2:142268324..142270584,3	MCF-7	breast:
10	chr2:142257639..142260616-chr2:142261708..142263676,2	MCF-7	breast:
11	chr2:142260948..142262730-chr2:142271665..142273452,2	MCF-7	breast:
12	chr2:142224840..142226819-chr2:142260426..142263186,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168702	chromatin interactions

Extended variants
information (count: 687 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:687 , 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	rs16846227	chr2:142246988-142246989	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536110178	chr2:142247011-142247012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555766401	chr2:142247018-142247019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386651255	chr2:142247057-142247058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538765086	chr2:142247061-142247062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12691612	chr2:142247072-142247073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572058548	chr2:142247073-142247074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16846233	chr2:142247118-142247119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191210947	chr2:142247163-142247164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183661677	chr2:142247164-142247165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531834121	chr2:142247176-142247177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543322585	chr2:142247192-142247193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188424845	chr2:142247210-142247211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559393439	chr2:142247371-142247372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116201733	chr2:142247377-142247378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145420715	chr2:142247384-142247385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181212015	chr2:142247405-142247406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185117464	chr2:142247412-142247413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547208290	chr2:142247442-142247443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567099938	chr2:142247460-142247461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529969684	chr2:142247476-142247477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4366842	chr2:142247526-142247527	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569357583	chr2:142247553-142247554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538257836	chr2:142247591-142247592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558486786	chr2:142247621-142247622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189944513	chr2:142247624-142247625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116719530	chr2:142247666-142247667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6718844	chr2:142247681-142247682	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs13391905	chr2:142247707-142247708	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187113244	chr2:142247726-142247727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556894012	chr2:142247750-142247751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192446386	chr2:142247834-142247835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375764417	chr2:142247837-142247838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs55659265	chr2:142247852-142247853	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs147702205	chr2:142247885-142247886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113390074	chr2:142247889-142247890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4384715	chr2:142247908-142247909	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs560787206	chr2:142247919-142247920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557540972	chr2:142247938-142247939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4527151	chr2:142247939-142247940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34721863	chr2:142247940-142247941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111337512	chr2:142247951-142247952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs201037762	chr2:142247954-142247955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72849680	chr2:142247955-142247956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs66605553	chr2:142247969-142247970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534065458	chr2:142247972-142247973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530135210	chr2:142247980-142247981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs4574055	chr2:142248027-142248028	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569860077	chr2:142248032-142248033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532401967	chr2:142248077-142248078	Weak transcription Enhancers	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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142239400-142256400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:142247400-142249600	Enhancers	Brain Angular Gyrus	brain
3	chr2:142247400-142249600	Enhancers	Brain Substantia Nigra	brain
4	chr2:142247600-142247800	Enhancers	Brain Anterior Caudate	brain
5	chr2:142247800-142249400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr2:142247800-142249600	Enhancers	Brain Hippocampus Middle	brain
7	chr2:142247800-142266200	Weak transcription	Brain Anterior Caudate	brain
8	chr2:142248000-142249600	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:142248200-142250000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:142248200-142250200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:142248600-142249000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:142248600-142249200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:142248600-142249600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:142248600-142250000	Enhancers	NH-A	brain
15	chr2:142248800-142249800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:142249000-142249400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:142249000-142249600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:142249000-142249600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:142249200-142251200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:142249400-142249600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:142249400-142251400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:142249600-142254800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:142249600-142257600	Weak transcription	Brain Substantia Nigra	brain
24	chr2:142249800-142251000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:142250000-142255000	Weak transcription	NH-A	brain
26	chr2:142250200-142254800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:142251000-142251800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:142251000-142251800	Enhancers	Esophagus	oesophagus
29	chr2:142251600-142251800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr2:142252800-142255000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:142254200-142255600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:142254400-142255400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:142254400-142256000	Enhancers	Dnd41	blood
34	chr2:142254600-142255400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:142254800-142255400	Enhancers	Primary hematopoietic stem cells	blood
36	chr2:142254800-142255600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:142254800-142256200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:142254800-142257800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:142255000-142255400	Enhancers	NH-A	brain
40	chr2:142255000-142256800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:142255400-142255600	Weak transcription	NH-A	brain
42	chr2:142255400-142256400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:142255400-142256600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:142255600-142256000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr2:142255600-142256000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:142255600-142257000	Enhancers	NH-A	brain
47	chr2:142256000-142257000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:142256000-142257800	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr2:142256000-142257800	Enhancers	Fetal Heart	heart
50	chr2:142256000-142258800	Weak transcription	Dnd41	blood

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