Variant report

Variant	nsv459529
Chromosome Location	chr2:141321160-141350100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:141323740..141325865-chr2:141332665..141335542,2	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:
4	chr2:141314211..141315888-chr2:141319868..141321651,2	MCF-7	breast:
5	chr2:141337531..141339093-chr2:141342570..141345467,2	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: 249 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:249 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535462589	chr2:141332029-141332030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs555365551	chr2:141332142-141332143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575616418	chr2:141332167-141332168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544468958	chr2:141332189-141332190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538638685	chr2:141332272-141332273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189138364	chr2:141332298-141332299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192101971	chr2:141332324-141332325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577754498	chr2:141332326-141332327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143267700	chr2:141332416-141332417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112213405	chr2:141332433-141332434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1352043	chr2:141332441-141332442	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184282916	chr2:141332446-141332447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541836894	chr2:141332457-141332458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35799401	chr2:141332521-141332522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1352045	chr2:141332522-141332523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs35836885	chr2:141335005-141335006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531684937	chr2:141335006-141335007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12464264	chr2:141335039-141335040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188225433	chr2:141335067-141335068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543296383	chr2:141335079-141335080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs116741381	chr2:141335124-141335125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112051598	chr2:141335128-141335129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548343470	chr2:141335132-141335133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544803477	chr2:141335175-141335176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13019155	chr2:141335224-141335225	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs34871884	chr2:141335228-141335229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192913172	chr2:141335235-141335236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34789509	chr2:141335237-141335238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557070060	chr2:141335239-141335240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560498445	chr2:141335244-141335245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs184628336	chr2:141335254-141335255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115752552	chr2:141335273-141335274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569782770	chr2:141335288-141335289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532314463	chr2:141335366-141335367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552060696	chr2:141335382-141335383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10928756	chr2:141335425-141335426	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534245521	chr2:141335426-141335427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs59559230	chr2:141335500-141335501	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10928757	chr2:141335596-141335597	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs189509810	chr2:141335639-141335640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371855247	chr2:141335667-141335668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536987285	chr2:141335679-141335680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556793319	chr2:141335731-141335732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13411843	chr2:141335750-141335751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545599593	chr2:141335806-141335807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs66723917	chr2:141335832-141335833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78020597	chr2:141335841-141335842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35188978	chr2:141335876-141335877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558843428	chr2:141335940-141335941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572107910	chr2:141335941-141335942	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141332000-141332600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr2:141335000-141335600	Enhancers	Liver	Liver
3	chr2:141335600-141336000	Weak transcription	Liver	Liver
4	chr2:141336000-141336200	Enhancers	Liver	Liver
5	chr2:141336200-141338600	Weak transcription	Liver	Liver
6	chr2:141336400-141336600	Enhancers	Adipose Nuclei	Adipose
7	chr2:141337800-141339400	Enhancers	Hela-S3	cervix
8	chr2:141338000-141338200	Enhancers	Fetal Intestine Large	intestine
9	chr2:141338000-141339200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:141338200-141338800	Enhancers	Adipose Nuclei	Adipose
11	chr2:141338400-141338800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:141338400-141339400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:141338600-141339000	Enhancers	Liver	Liver
14	chr2:141338800-141339000	Enhancers	Fetal Intestine Large	intestine
15	chr2:141341600-141342400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:141342000-141342600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:141347000-141347600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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