Variant report

Variant	nsv974580
Chromosome Location	chr15:56296572-56299035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550440239	chr15:56296638-56296639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193125458	chr15:56296694-56296695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570362230	chr15:56296710-56296711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185563644	chr15:56296732-56296733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577161088	chr15:56296738-56296739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188430116	chr15:56296775-56296776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559106103	chr15:56296782-56296783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528151865	chr15:56296856-56296857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374839223	chr15:56296889-56296890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370318715	chr15:56296906-56296907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538918241	chr15:56297007-56297008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541542266	chr15:56297056-56297057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561848974	chr15:56297060-56297061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530721843	chr15:56297061-56297062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141199139	chr15:56297066-56297067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570716650	chr15:56297111-56297112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533270645	chr15:56297115-56297116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552516357	chr15:56297116-56297117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530978310	chr15:56297143-56297144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565956452	chr15:56297152-56297153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150757886	chr15:56297164-56297165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191908781	chr15:56297166-56297167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1818376	chr15:56297180-56297181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs537240717	chr15:56297222-56297223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557144200	chr15:56297317-56297318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183992986	chr15:56297385-56297386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374539949	chr15:56297386-56297387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553659994	chr15:56297387-56297388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188724869	chr15:56297409-56297410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17819312	chr15:56297427-56297428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs561756232	chr15:56297477-56297478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145246411	chr15:56297492-56297493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544373578	chr15:56297511-56297512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564296747	chr15:56297525-56297526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs3985763	chr15:56297607-56297608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573441633	chr15:56297623-56297624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546563082	chr15:56297688-56297689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs3985764	chr15:56297704-56297705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181162816	chr15:56297722-56297723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3985765	chr15:56297792-56297793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528475637	chr15:56297802-56297803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542408305	chr15:56297848-56297849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183741809	chr15:56297867-56297868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3959682	chr15:56297909-56297910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369603569	chr15:56297915-56297916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62046378	chr15:56297947-56297948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs373099311	chr15:56297960-56297961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201014537	chr15:56298047-56298048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377739265	chr15:56298049-56298050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537153447	chr15:56298132-56298133	Weak 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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56292200-56298200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:56292400-56298800	Weak transcription	A549	lung
3	chr15:56295000-56298200	Weak transcription	Placenta	Placenta
4	chr15:56295000-56298400	Weak transcription	NHEK	skin
5	chr15:56295000-56298600	Weak transcription	HMEC	breast
6	chr15:56295000-56298800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:56295000-56298800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:56295000-56299000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:56295200-56298200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:56296600-56296800	Enhancers	K562	blood
11	chr15:56296800-56299000	Weak transcription	K562	blood
12	chr15:56298200-56298400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:56298200-56298800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr15:56298200-56298800	Enhancers	Placenta	Placenta
15	chr15:56298400-56298800	Enhancers	NHEK	skin
16	chr15:56298400-56299600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:56298400-56300000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:56298600-56298800	Enhancers	HMEC	breast
19	chr15:56298600-56299800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:56298600-56299800	Active TSS	Muscle Satellite Cultured Cells	--
21	chr15:56298600-56299800	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr15:56298600-56300000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr15:56298800-56299000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:56298800-56299200	Flanking Active TSS	A549	lung
25	chr15:56298800-56299200	Flanking Active TSS	HMEC	breast
26	chr15:56298800-56299200	Flanking Active TSS	NHEK	skin
27	chr15:56298800-56299400	Active TSS	Aorta	Aorta
28	chr15:56298800-56299400	Active TSS	Brain Hippocampus Middle	brain
29	chr15:56298800-56299800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr15:56298800-56299800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:56298800-56299800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:56298800-56299800	Active TSS	Duodenum Mucosa	Duodenum
33	chr15:56298800-56299800	Active TSS	Placenta	Placenta
34	chr15:56298800-56299800	Active TSS	Ovary	ovary
35	chr15:56298800-56299800	Active TSS	HSMM	muscle
36	chr15:56298800-56299800	Active TSS	HSMMtube	muscle
37	chr15:56298800-56299800	Active TSS	HUVEC	blood vessel
38	chr15:56298800-56299800	Active TSS	Osteobl	bone
39	chr15:56298800-56300000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr15:56298800-56300000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:56298800-56300000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:56298800-56300000	Active TSS	Stomach Smooth Muscle	stomach
43	chr15:56298800-56300000	Active TSS	NHDF-Ad	bronchial
44	chr15:56298800-56300000	Active TSS	NHLF	lung
45	chr15:56299000-56299200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:56299000-56299400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:56299000-56299400	Active TSS	Esophagus	oesophagus
48	chr15:56299000-56299600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr15:56299000-56299600	Enhancers	K562	blood
50	chr15:56299000-56299800	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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