Variant report

Variant	nsv998754
Chromosome Location	chr2:123898234-123930964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:123875042..123877749-chr2:123908659..123911389,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MKI67IP-12	chr2:123918438-123918491	NONHSAT074095
2	lnc-MKI67IP-12	chr2:123917312-123917526	NONHSAT074095

Extended variants
information (count: 204 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:204 , 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	rs35869718	chr2:123901033-123901034	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs538297163	chr2:123901067-123901068	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs543756034	chr2:123901123-123901124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs182588763	chr2:123901134-123901135	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs550319018	chr2:123901162-123901163	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs34955457	chr2:123901166-123901167	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs78365622	chr2:123901167-123901168	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs558912999	chr2:123901179-123901180	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs559919847	chr2:123901188-123901189	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs372694756	chr2:123901202-123901203	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs528685639	chr2:123901216-123901217	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs150329155	chr2:123901244-123901245	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs571860181	chr2:123901261-123901262	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs537353661	chr2:123901270-123901271	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs188102157	chr2:123901299-123901300	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs116442836	chr2:123901320-123901321	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs528944675	chr2:123901339-123901340	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs555029897	chr2:123901363-123901364	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs192797377	chr2:123901369-123901370	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs534506691	chr2:123901387-123901388	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs73951648	chr2:123901396-123901397	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577830732	chr2:123901401-123901402	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs185194168	chr2:123901436-123901437	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs370570932	chr2:123901438-123901439	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs80087788	chr2:123901466-123901467	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs569234889	chr2:123901499-123901500	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs187486081	chr2:123901561-123901562	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs538935897	chr2:123914202-123914203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552881563	chr2:123914237-123914238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578044840	chr2:123914241-123914242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139116392	chr2:123914252-123914253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528641086	chr2:123914272-123914273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557440910	chr2:123914274-123914275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574123031	chr2:123914277-123914278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186924079	chr2:123914287-123914288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191487081	chr2:123914327-123914328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142769771	chr2:123914365-123914366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184047133	chr2:123914368-123914369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545263262	chr2:123914480-123914481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565247793	chr2:123914490-123914491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10169293	chr2:123914495-123914496	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs78610215	chr2:123914496-123914497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563228189	chr2:123914504-123914505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7574323	chr2:123914512-123914513	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs533879806	chr2:123914532-123914533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73951657	chr2:123914538-123914539	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs149891905	chr2:123914564-123914565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144896954	chr2:123914565-123914566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572678819	chr2:123914566-123914567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs368264924	chr2:123914584-123914585	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Bladder cancer	21909424	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:123901000-123901600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:123901000-123901600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:123901000-123901600	Active TSS	Adipose Nuclei	Adipose
4	chr2:123901200-123901600	Active TSS	Ovary	ovary
5	chr2:123901200-123901600	Active TSS	Right Atrium	heart
6	chr2:123901200-123901600	Active TSS	Stomach Smooth Muscle	stomach
7	chr2:123914200-123915200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:123914200-123915400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:123918600-123919200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:123918600-123919200	Enhancers	Fetal Lung	lung
11	chr2:123918600-123919400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:123918800-123919200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:123919000-123919400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr2:123919000-123919400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr2:123920800-123921800	Enhancers	Fetal Stomach	stomach
16	chr2:123921000-123922600	Enhancers	Brain Germinal Matrix	brain
17	chr2:123921800-123922200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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