Variant report

Variant	nsv470491
Chromosome Location	chr2:142254119-142299923
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:142267758..142272921-chr2:142273064..142275767,4	MCF-7	breast:
2	chr2:142248367..142251172-chr2:142262537..142266743,4	MCF-7	breast:
3	chr2:142265220..142267079-chr2:142275773..142278354,2	MCF-7	breast:
4	chr2:142299065..142301455-chr2:142302719..142305386,2	MCF-7	breast:
5	chr2:142259654..142261746-chr2:142265611..142267711,3	MCF-7	breast:
6	chr2:142259034..142262033-chr2:142268324..142270584,3	MCF-7	breast:
7	chr2:142225007..142227143-chr2:142273674..142276575,2	MCF-7	breast:
8	chr2:142261934..142264280-chr2:142265309..142267485,3	MCF-7	breast:
9	chr2:142260948..142262730-chr2:142271665..142273452,2	MCF-7	breast:
10	chr2:142291504..142294290-chr2:142295014..142296558,2	MCF-7	breast:
11	chr2:142288498..142290059-chr2:142292199..142295076,2	MCF-7	breast:
12	chr2:142257639..142260616-chr2:142261708..142263676,2	MCF-7	breast:
13	chr2:142263240..142267352-chr2:142886657..142889435,3	MCF-7	breast:
14	chr2:142285408..142288288-chr2:142294613..142297064,2	MCF-7	breast:
15	chr2:142291504..142294290-chr2:142295014..142296558,2	MCF-7	breast:
16	chr2:142285408..142288288-chr2:142294613..142297064,2	MCF-7	breast:
17	chr2:142260948..142262730-chr2:142271665..142273452,2	MCF-7	breast:
18	chr2:142288498..142290059-chr2:142292199..142295076,2	MCF-7	breast:
19	chr11:62609066..62609640-chr2:142273282..142274142,2	NB4	blood:
20	chr2:142259654..142261746-chr2:142265611..142267711,3	MCF-7	breast:
21	chr2:142259034..142262033-chr2:142268324..142270584,3	MCF-7	breast:
22	chr2:142260415..142263091-chr2:142286815..142289016,3	MCF-7	breast:
23	chr2:142267758..142272921-chr2:142273064..142275767,4	MCF-7	breast:
24	chr2:142259500..142260427-chr2:142322823..142323400,2	MCF-7	breast:
25	chr2:142224840..142226819-chr2:142260426..142263186,2	MCF-7	breast:
26	chr2:142267530..142270120-chr2:142367084..142369508,2	MCF-7	breast:
27	chr2:142261934..142264280-chr2:142265309..142267485,3	MCF-7	breast:
28	chr2:142265220..142267079-chr2:142275773..142278354,2	MCF-7	breast:
29	chr2:142260415..142263091-chr2:142286815..142289016,3	MCF-7	breast:
30	chr2:142265321..142267918-chr2:142664161..142666622,2	MCF-7	breast:
31	chr2:142257639..142260616-chr2:142261708..142263676,2	MCF-7	breast:
32	chr2:142241833..142244486-chr2:142265674..142268047,2	MCF-7	breast:
33	chr2:142223533..142226548-chr2:142266133..142269163,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168702	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 1701 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1701 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4340449	chr2:142254119-142254120	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs143088147	chr2:142254136-142254137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541044684	chr2:142254176-142254177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560811250	chr2:142254224-142254225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574680344	chr2:142254261-142254262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148186499	chr2:142254281-142254282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563488579	chr2:142254290-142254291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532240607	chr2:142254364-142254365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545891183	chr2:142254431-142254432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370356152	chr2:142254473-142254474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35106799	chr2:142254493-142254494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs559511933	chr2:142254494-142254495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75890294	chr2:142254530-142254531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs13411463	chr2:142254632-142254633	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs183310313	chr2:142254645-142254646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564847422	chr2:142254740-142254741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4538134	chr2:142254796-142254797	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs369928372	chr2:142254808-142254809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs68142404	chr2:142254841-142254842	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs4338922	chr2:142254868-142254869	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs62167876	chr2:142254876-142254877	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534550293	chr2:142254880-142254881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141166109	chr2:142254936-142254937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186970975	chr2:142254951-142254952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554539913	chr2:142255025-142255026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190731974	chr2:142255026-142255027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543687562	chr2:142255042-142255043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17615422	chr2:142255047-142255048	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs546036156	chr2:142255077-142255078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs75416129	chr2:142255078-142255079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4245858	chr2:142255090-142255091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs541989283	chr2:142255091-142255092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76444715	chr2:142255096-142255097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559247382	chr2:142255148-142255149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550423226	chr2:142255186-142255187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577609115	chr2:142255224-142255225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570271124	chr2:142255234-142255235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183202924	chr2:142255255-142255256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76274896	chr2:142255257-142255258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565981279	chr2:142255283-142255284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147007312	chr2:142255310-142255311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13023434	chr2:142255316-142255317	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs34737388	chr2:142255361-142255362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559624285	chr2:142255442-142255443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540487230	chr2:142255513-142255514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138238569	chr2:142255521-142255522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537070823	chr2:142255524-142255525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113023503	chr2:142255526-142255527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375684598	chr2:142255527-142255528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201704034	chr2:142255554-142255555	Weak transcription Enhancers	n/a	n/a	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:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142239400-142256400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:142247800-142266200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:142249600-142254800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:142249600-142257600	Weak transcription	Brain Substantia Nigra	brain
5	chr2:142250000-142255000	Weak transcription	NH-A	brain
6	chr2:142250200-142254800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:142252800-142255000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:142254200-142255600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:142254400-142255400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:142254400-142256000	Enhancers	Dnd41	blood
11	chr2:142254600-142255400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:142254800-142255400	Enhancers	Primary hematopoietic stem cells	blood
13	chr2:142254800-142255600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:142254800-142256200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:142254800-142257800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:142255000-142255400	Enhancers	NH-A	brain
17	chr2:142255000-142256800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:142255400-142255600	Weak transcription	NH-A	brain
19	chr2:142255400-142256400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:142255400-142256600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr2:142255600-142256000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:142255600-142256000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:142255600-142257000	Enhancers	NH-A	brain
24	chr2:142256000-142257000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:142256000-142257800	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr2:142256000-142257800	Enhancers	Fetal Heart	heart
27	chr2:142256000-142258800	Weak transcription	Dnd41	blood
28	chr2:142256200-142256400	Enhancers	Brain Hippocampus Middle	brain
29	chr2:142256400-142256600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:142256400-142257200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:142256400-142263600	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:142256800-142257000	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:142257400-142257800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr2:142257600-142258000	Enhancers	Brain Substantia Nigra	brain
35	chr2:142257600-142258200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:142257800-142259200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:142257800-142265800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:142258000-142265800	Weak transcription	Brain Substantia Nigra	brain
39	chr2:142258800-142260200	Enhancers	Dnd41	blood
40	chr2:142259000-142259600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:142259000-142259800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:142259000-142260200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:142259200-142259800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr2:142259600-142259800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr2:142259600-142259800	Enhancers	Fetal Brain Male	brain
46	chr2:142259800-142261000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:142259800-142262600	Weak transcription	Fetal Brain Male	brain
48	chr2:142260000-142261000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:142260200-142263400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:142261000-142261600	Enhancers	Cortex derived primary cultured neurospheres	brain

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