Variant report

Variant	nsv976850
Chromosome Location	chr14:43131856-43141130
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	E2F4	chr14:43138966-43139103	MCF10A-Er-Src	breast:	n/a	n/a
2	E2F4	chr14:43140939-43141317	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr14:43140865-43141215	MCF10A-Er-Src	breast:	n/a	chr14:43140934-43140942 chr14:43140933-43140943 chr14:43140932-43140944
4	FOS	chr14:43140866-43141075	MCF10A-Er-Src	breast:	n/a	chr14:43140934-43140942 chr14:43140933-43140943 chr14:43140932-43140944
5	FOS	chr14:43140931-43141075	MCF10A-Er-Src	breast:	n/a	chr14:43140934-43140942 chr14:43140933-43140943 chr14:43140932-43140944
6	FOS	chr14:43140840-43141105	MCF10A-Er-Src	breast:	n/a	chr14:43140934-43140942 chr14:43140933-43140943 chr14:43140932-43140944
7	MAFK	chr14:43140027-43140073	HepG2	liver:	n/a	n/a
8	NFIC	chr14:43134275-43134638	ECC-1	luminal epithelium:	n/a	n/a
9	NFIC	chr14:43134275-43134844	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr14:43137965-43138163	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr14:43135103-43135288	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:43133461-43133557	MCF10A-Er-Src	breast:	n/a	n/a
13	SP1	chr14:43133428-43133742	H1-hESC	embryonic stem cell:	n/a	n/a
14	STAT3	chr14:43135029-43135050	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr14:43134279-43134473	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr14:43133691-43133855	MCF10A-Er-Src	breast:	n/a	n/a
17	TCF7L2	chr14:43136664-43136846	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:43134052..43134776-chr3:181029654..181030646,2	MCF-7	breast:
2	chr14:43140328..43142020-chr14:43153445..43155405,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258622	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578081673	chr14:43132800-43132801	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs545380325	chr14:43132854-43132855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs563774432	chr14:43132867-43132868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs531075003	chr14:43132957-43132958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs562736646	chr14:43132963-43132964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs576528605	chr14:43132984-43132985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs549202095	chr14:43132990-43132991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs145008262	chr14:43133248-43133249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539058210	chr14:43133263-43133264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370710203	chr14:43133334-43133335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189211989	chr14:43133341-43133342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553453338	chr14:43133346-43133347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192817779	chr14:43133354-43133355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536782562	chr14:43133366-43133367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117089516	chr14:43133389-43133390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76168234	chr14:43133405-43133406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534870849	chr14:43133446-43133447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557584419	chr14:43133488-43133489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138786171	chr14:43133527-43133528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142047443	chr14:43133543-43133544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557432603	chr14:43133572-43133573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73332867	chr14:43133621-43133622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187063038	chr14:43133627-43133628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117338121	chr14:43133629-43133630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374171889	chr14:43133703-43133704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529103763	chr14:43133739-43133740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191834152	chr14:43133764-43133765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10146274	chr14:43133775-43133776	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs78393606	chr14:43133813-43133814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184292227	chr14:43133824-43133825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551244332	chr14:43133855-43133856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189079232	chr14:43133872-43133873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547574883	chr14:43133880-43133881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199862048	chr14:43133904-43133905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530194942	chr14:43133932-43133933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550078387	chr14:43133934-43133935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181081143	chr14:43133974-43133975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71411649	chr14:43133988-43133989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185522297	chr14:43134025-43134026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567209403	chr14:43134036-43134037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535222334	chr14:43134057-43134058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553336396	chr14:43134086-43134087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs113919197	chr14:43134117-43134118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372580290	chr14:43134142-43134143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370813226	chr14:43134143-43134144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142151376	chr14:43134150-43134151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs59081070	chr14:43134168-43134169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75633147	chr14:43134191-43134192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538929111	chr14:43134192-43134193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs150426667	chr14:43134259-43134260	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Glioblastoma multiforme	21569311	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43132800-43133000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:43133200-43133400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:43133200-43134600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:43133400-43134200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:43133800-43134200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr14:43134000-43134400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:43134000-43134400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr14:43134200-43134400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:43137600-43138000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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