Variant report

Variant	nsv875193
Chromosome Location	chr2:141334737-141361688
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:141337531..141339093-chr2:141342570..141345467,2	MCF-7	breast:
2	chr2:141337531..141339093-chr2:141342570..141345467,2	MCF-7	breast:
3	chr2:141323740..141325865-chr2:141332665..141335542,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7157-3p	chr2:141344195-141344216	MIMAT0028225
hsa-miR-7157-5p	chr2:141344232-141344254	MIMAT0028224

Extended variants
information (count: 719 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35836885	chr2:141335005-141335006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531684937	chr2:141335006-141335007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12464264	chr2:141335039-141335040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188225433	chr2:141335067-141335068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543296383	chr2:141335079-141335080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116741381	chr2:141335124-141335125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112051598	chr2:141335128-141335129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548343470	chr2:141335132-141335133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544803477	chr2:141335175-141335176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13019155	chr2:141335224-141335225	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs34871884	chr2:141335228-141335229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192913172	chr2:141335235-141335236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34789509	chr2:141335237-141335238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557070060	chr2:141335239-141335240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560498445	chr2:141335244-141335245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184628336	chr2:141335254-141335255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115752552	chr2:141335273-141335274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569782770	chr2:141335288-141335289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532314463	chr2:141335366-141335367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552060696	chr2:141335382-141335383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs10928756	chr2:141335425-141335426	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534245521	chr2:141335426-141335427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs59559230	chr2:141335500-141335501	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10928757	chr2:141335596-141335597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs189509810	chr2:141335639-141335640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371855247	chr2:141335667-141335668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536987285	chr2:141335679-141335680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556793319	chr2:141335731-141335732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13411843	chr2:141335750-141335751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545599593	chr2:141335806-141335807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs66723917	chr2:141335832-141335833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78020597	chr2:141335841-141335842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35188978	chr2:141335876-141335877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558843428	chr2:141335940-141335941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs572107910	chr2:141335941-141335942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6740070	chr2:141336008-141336009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531137015	chr2:141336016-141336017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6740082	chr2:141336031-141336032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs76577512	chr2:141336039-141336040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs180777485	chr2:141336058-141336059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184797718	chr2:141336077-141336078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs532274846	chr2:141336116-141336117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114353427	chr2:141336131-141336132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147875810	chr2:141336137-141336138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189309599	chr2:141336158-141336159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117213339	chr2:141336179-141336180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141586442	chr2:141336225-141336226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138343921	chr2:141336247-141336248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181673496	chr2:141336253-141336254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570337412	chr2:141336279-141336280	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141335000-141335600	Enhancers	Liver	Liver
2	chr2:141335600-141336000	Weak transcription	Liver	Liver
3	chr2:141336000-141336200	Enhancers	Liver	Liver
4	chr2:141336200-141338600	Weak transcription	Liver	Liver
5	chr2:141336400-141336600	Enhancers	Adipose Nuclei	Adipose
6	chr2:141337800-141339400	Enhancers	Hela-S3	cervix
7	chr2:141338000-141338200	Enhancers	Fetal Intestine Large	intestine
8	chr2:141338000-141339200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:141338200-141338800	Enhancers	Adipose Nuclei	Adipose
10	chr2:141338400-141338800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:141338400-141339400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:141338600-141339000	Enhancers	Liver	Liver
13	chr2:141338800-141339000	Enhancers	Fetal Intestine Large	intestine
14	chr2:141341600-141342400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:141342000-141342600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:141347000-141347600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:141350200-141350600	Enhancers	Fetal Intestine Large	intestine
18	chr2:141350600-141351000	Enhancers	A549	lung
19	chr2:141351000-141353800	Weak transcription	A549	lung
20	chr2:141351600-141351800	ZNF genes & repeats	Pancreas	Pancrea
21	chr2:141351800-141359000	Weak transcription	Pancreas	Pancrea
22	chr2:141353800-141354200	Enhancers	A549	lung
23	chr2:141353800-141354400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr2:141354200-141357800	Weak transcription	A549	lung
25	chr2:141355400-141355800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:141357400-141358200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:141357400-141358200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:141357600-141358200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:141357600-141358200	Enhancers	NH-A	brain
30	chr2:141357600-141358400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:141357800-141358200	Enhancers	A549	lung
32	chr2:141358200-141361400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:141358200-141362000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:141358400-141361000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:141359000-141359200	ZNF genes & repeats	Pancreas	Pancrea
36	chr2:141361000-141362200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:141361400-141363000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links