Variant report

Variant	nsv977718
Chromosome Location	chr15:56615388-56617888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:56617556-56617794	IMR90	lung:	n/a	n/a
2	E2F4	chr15:56617413-56617680	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr15:56617361-56617832	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr15:56617430-56617859	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr15:56617479-56617822	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr15:56617449-56617789	MCF10A-Er-Src	breast:	n/a	n/a
7	MAFF	chr15:56615625-56615942	K562	blood:	n/a	n/a
8	MAFF	chr15:56615639-56615970	HepG2	liver:	n/a	n/a
9	MAFK	chr15:56615628-56615897	IMR90	lung:	n/a	n/a
10	MAFK	chr15:56615666-56615923	Hela-S3	cervix:	n/a	n/a
11	MAFK	chr15:56615638-56615933	K562	blood:	n/a	n/a
12	MAFK	chr15:56615619-56615949	HepG2	liver:	n/a	n/a
13	MAFK	chr15:56615644-56615964	HepG2	liver:	n/a	n/a
14	MYC	chr15:56617457-56617862	MCF10A-Er-Src	breast:	n/a	chr15:56617568-56617576
15	SPI1	chr15:56615581-56616050	HL-60	blood:	n/a	n/a
16	STAT3	chr15:56617495-56617774	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr15:56617456-56617816	MCF10A-Er-Src	breast:	n/a	chr15:56617791-56617803
18	STAT3	chr15:56617354-56617775	MCF10A-Er-Src	breast:	n/a	n/a
19	ZMIZ1	chr15:56615595-56615700	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56610264..56612572-chr15:56615579..56617540,2	K562	blood:

Variant related genes	Relation type
ENSG00000261174	TF binding region

Extended variants
information (count: 127 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567906454	chr15:56615401-56615402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377441001	chr15:56615403-56615404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187911404	chr15:56615421-56615422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191087128	chr15:56615463-56615464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544699118	chr15:56615481-56615482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558480303	chr15:56615546-56615547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs2718923	chr15:56615572-56615573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs2725857	chr15:56615576-56615577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs182110936	chr15:56615593-56615594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs367807418	chr15:56615623-56615624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2554288	chr15:56615624-56615625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563460075	chr15:56615689-56615690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532391916	chr15:56615698-56615699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551494640	chr15:56615705-56615706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34772663	chr15:56615755-56615756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187769145	chr15:56615771-56615772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527684736	chr15:56615773-56615774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34918435	chr15:56615797-56615798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs397729729	chr15:56615803-56615804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs398118882	chr15:56615804-56615805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547939872	chr15:56615852-56615853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569987395	chr15:56615863-56615864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374774394	chr15:56615890-56615891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141813886	chr15:56615905-56615906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567746444	chr15:56615918-56615919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386784303	chr15:56615921-56615922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201048405	chr15:56615922-56615923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150436813	chr15:56615929-56615930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12910222	chr15:56615931-56615932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62047370	chr15:56615937-56615938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12909775	chr15:56615938-56615939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12909891	chr15:56615944-56615945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112216560	chr15:56615949-56615950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62047371	chr15:56615958-56615959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs144196942	chr15:56615963-56615964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58869368	chr15:56615964-56615965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28735496	chr15:56615981-56615982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558973885	chr15:56615983-56615984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571753719	chr15:56616004-56616005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368653627	chr15:56616058-56616059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572354572	chr15:56616081-56616082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76665040	chr15:56616095-56616096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368086833	chr15:56616100-56616101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146557351	chr15:56616111-56616112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141286173	chr15:56616123-56616124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563459693	chr15:56616130-56616131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532198909	chr15:56616153-56616154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546126476	chr15:56616174-56616175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559665822	chr15:56616186-56616187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527719547	chr15:56616201-56616202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56613400-56623400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:56613600-56616800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr15:56613800-56619600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:56614400-56616800	Weak transcription	NHEK	skin
5	chr15:56614600-56616800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr15:56614600-56618800	Weak transcription	Placenta	Placenta
7	chr15:56614600-56619800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:56616800-56617400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:56616800-56617800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:56616800-56618400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:56616800-56618400	Enhancers	NHEK	skin
12	chr15:56616800-56618600	Enhancers	Osteobl	bone
13	chr15:56617000-56617600	Enhancers	HMEC	breast
14	chr15:56617000-56618000	Enhancers	NHDF-Ad	bronchial
15	chr15:56617200-56618000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:56617400-56618000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr15:56617600-56619400	Weak transcription	HMEC	breast
18	chr15:56617800-56619600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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