Variant report

Variant	nsv983991
Chromosome Location	chr15:56022191-56026911
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	chr15:55957804..55959845-chr15:56026147..56028031,2	MCF-7	breast:

Extended variants
information (count: 224 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:224 , 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	rs540509455	chr15:56022195-56022196	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs374476694	chr15:56022203-56022204	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs114864276	chr15:56022226-56022227	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs529466010	chr15:56022271-56022272	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs12592192	chr15:56022324-56022325	Strong transcription Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs35364738	chr15:56022332-56022333	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558407524	chr15:56022336-56022337	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs187957789	chr15:56022357-56022358	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs372868082	chr15:56022358-56022359	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs191262057	chr15:56022385-56022386	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs551513024	chr15:56022431-56022432	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs556602393	chr15:56022442-56022443	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs375285037	chr15:56022448-56022449	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs544784885	chr15:56022466-56022467	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs534152108	chr15:56022482-56022483	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs553328635	chr15:56022498-56022499	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs575132312	chr15:56022535-56022536	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535657876	chr15:56022559-56022560	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs184833583	chr15:56022626-56022627	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370612775	chr15:56022701-56022702	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs189254117	chr15:56022728-56022729	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs557502815	chr15:56022773-56022774	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs144831129	chr15:56022774-56022775	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577582173	chr15:56022782-56022783	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs149142006	chr15:56022793-56022794	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs181816533	chr15:56022865-56022866	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs12912118	chr15:56022928-56022929	Strong transcription Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs529535039	chr15:56022947-56022948	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs147782215	chr15:56022949-56022950	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs540019246	chr15:56022955-56022956	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs530238083	chr15:56022991-56022992	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372177271	chr15:56022993-56022994	Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs186846716	chr15:56023041-56023042	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs531746796	chr15:56023077-56023078	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs551870755	chr15:56023082-56023083	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs571625404	chr15:56023138-56023139	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs527690917	chr15:56023139-56023140	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs557558666	chr15:56023166-56023167	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs111564556	chr15:56023182-56023183	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs566811644	chr15:56023225-56023226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535743271	chr15:56023229-56023230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548931001	chr15:56023263-56023264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181109031	chr15:56023274-56023275	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372049796	chr15:56023287-56023288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543101192	chr15:56023291-56023292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75232664	chr15:56023296-56023297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370295936	chr15:56023313-56023314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369728101	chr15:56023314-56023315	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs398118876	chr15:56023317-56023318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201926408	chr15:56023318-56023319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55999800-56028000	Weak transcription	Fetal Kidney	kidney
2	chr15:56008000-56028200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr15:56008000-56029000	Weak transcription	Hela-S3	cervix
4	chr15:56008400-56029600	Weak transcription	HepG2	liver
5	chr15:56010200-56026400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:56013400-56028400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:56013600-56028200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:56015400-56029600	Weak transcription	A549	lung
9	chr15:56017800-56033400	Weak transcription	Ovary	ovary
10	chr15:56018000-56026000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:56018200-56027800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:56018400-56026000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:56018600-56023000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:56021600-56023200	Active TSS	Stomach Smooth Muscle	stomach
15	chr15:56021800-56023400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:56023000-56024400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:56023200-56026000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr15:56023400-56024400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:56024400-56026000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:56024400-56026400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:56024400-56030800	Weak transcription	Psoas Muscle	Psoas
22	chr15:56025000-56033600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:56025400-56028800	Weak transcription	HUVEC	blood vessel
24	chr15:56026000-56026400	Enhancers	Stomach Smooth Muscle	stomach
25	chr15:56026000-56026800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:56026000-56026800	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:56026000-56028000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:56026400-56028800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:56026400-56029400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr15:56026400-56030800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:56026800-56027000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:56026800-56028600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived

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