Variant report

Variant	nsv470634
Chromosome Location	chr14:42760105-42826112
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	BATF	chr14:42807386-42807601	GM12878	blood:	n/a	chr14:42807519-42807530
2	BCL11A	chr14:42805119-42805441	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL11A	chr14:42792249-42792451	GM12878	blood:	n/a	n/a
4	BCL11A	chr14:42805184-42805444	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr14:42765370-42765423	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr14:42814720-42815083	HepG2	liver:	n/a	chr14:42814932-42814943
7	CEBPB	chr14:42818287-42818489	HepG2	liver:	n/a	chr14:42818369-42818380 chr14:42818371-42818380 chr14:42818369-42818382
8	CEBPB	chr14:42791970-42792336	HepG2	liver:	n/a	n/a
9	CTCF	chr14:42825381-42825442	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr14:42762620-42762770	HepG2	liver:	n/a	n/a
11	CTCF	chr14:42776625-42776650	GM13976	blood:	n/a	n/a
12	CTCF	chr14:42766417-42766501	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr14:42792280-42792430	HL-60	blood:	n/a	n/a
14	CUX1	chr14:42801611-42801613	GM12878	blood:	n/a	n/a
15	CUX1	chr14:42771651-42771697	GM12878	blood:	n/a	n/a
16	CUX1	chr14:42774398-42774429	GM12878	blood:	n/a	n/a
17	E2F4	chr14:42772138-42772374	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr14:42781344-42781405	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr14:42789470-42789978	MCF10A-Er-Src	breast:	n/a	n/a
20	EBF1	chr14:42821592-42821853	GM12878	blood:	n/a	chr14:42821697-42821708
21	EBF1	chr14:42821504-42821856	GM12878	blood:	n/a	chr14:42821697-42821708
22	EBF1	chr14:42768905-42769334	GM12878	blood:	n/a	chr14:42769143-42769154 chr14:42769143-42769156
23	EBF1	chr14:42768984-42769255	GM12878	blood:	n/a	chr14:42769143-42769154 chr14:42769143-42769156
24	EBF1	chr14:42768985-42769225	GM12878	blood:	n/a	chr14:42769143-42769154 chr14:42769143-42769156
25	EBF1	chr14:42821567-42821822	GM12878	blood:	n/a	chr14:42821697-42821708
26	EBF1	chr14:42792304-42792495	GM12878	blood:	n/a	n/a
27	EP300	chr14:42792266-42792455	GM12878	blood:	n/a	n/a
28	EP300	chr14:42805099-42805489	H1-hESC	embryonic stem cell:	n/a	n/a
29	EP300	chr14:42805184-42805418	H1-hESC	embryonic stem cell:	n/a	n/a
30	EP300	chr14:42792274-42792481	GM12878	blood:	n/a	n/a
31	ESRRA	chr14:42791969-42792721	GM12878	blood:	n/a	n/a
32	FOS	chr14:42814006-42814119	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr14:42814027-42814105	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr14:42823827-42823851	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr14:42769687-42769696	MCF10A-Er-Src	breast:	n/a	n/a
36	FOXA2	chr14:42761285-42761517	A549	lung:	n/a	n/a
37	FOXP2	chr14:42768916-42769259	SK-N-MC	brain:	n/a	n/a
38	HDAC2	chr14:42805186-42805446	H1-hESC	embryonic stem cell:	n/a	n/a
39	HDAC2	chr14:42805211-42805381	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr14:42805181-42805396	H1-hESC	embryonic stem cell:	n/a	n/a
41	JUND	chr14:42805205-42805380	H1-hESC	embryonic stem cell:	n/a	n/a
42	KAP1	chr14:42776631-42776973	K562	blood:	n/a	n/a
43	KAP1	chr14:42770886-42771349	K562	blood:	n/a	n/a
44	KAP1	chr14:42776022-42776395	K562	blood:	n/a	n/a
45	MAFF	chr14:42762433-42762756	HepG2	liver:	n/a	chr14:42762562-42762580
46	MAFF	chr14:42804149-42804493	HepG2	liver:	n/a	chr14:42804312-42804330
47	MAFK	chr14:42804160-42804495	HepG2	liver:	n/a	chr14:42804314-42804329
48	MAFK	chr14:42799889-42800183	HepG2	liver:	n/a	chr14:42799951-42799961
49	MAFK	chr14:42804201-42804496	IMR90	lung:	n/a	chr14:42804314-42804329
50	MAFK	chr14:42805718-42805908	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:42790692..42792450-chr14:42801986..42803943,2	MCF-7	breast:
2	chr14:42790692..42792450-chr14:42801986..42803943,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222084	TF binding region

Extended variants
information (count: 1097 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1097 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373216363	chr14:42761701-42761702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs377461005	chr14:42761709-42761710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145210679	chr14:42761730-42761731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71411630	chr14:42761754-42761755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559325650	chr14:42761757-42761758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533254071	chr14:42761767-42761768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190407679	chr14:42761791-42761792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528292767	chr14:42761862-42761863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370504790	chr14:42761913-42761914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569652130	chr14:42761942-42761943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530535451	chr14:42761971-42761972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532287340	chr14:42765377-42765378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs529306119	chr14:42765385-42765386	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs183747425	chr14:42765415-42765416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs189832083	chr14:42766433-42766434	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs201518237	chr14:42767250-42767251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs537229371	chr14:42767271-42767272	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs59850834	chr14:42767272-42767273	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs369318450	chr14:42767281-42767282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs373566027	chr14:42767313-42767314	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs112990962	chr14:42767319-42767320	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs58873381	chr14:42767829-42767830	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs569323010	chr14:42767831-42767832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543215056	chr14:42767866-42767867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577944953	chr14:42767889-42767890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545286152	chr14:42767911-42767912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563593806	chr14:42767958-42767959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs58972478	chr14:42768003-42768004	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs186725813	chr14:42768010-42768011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34235165	chr14:42768016-42768017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs74046829	chr14:42768026-42768027	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs192742014	chr14:42768044-42768045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185433848	chr14:42768050-42768051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532589765	chr14:42768058-42768059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190636990	chr14:42768080-42768081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550816433	chr14:42768093-42768094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537987302	chr14:42768151-42768152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569462443	chr14:42768168-42768169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536996870	chr14:42768194-42768195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181511205	chr14:42768208-42768209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548075267	chr14:42768224-42768225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374824658	chr14:42768231-42768232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs71831713	chr14:42768232-42768233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59351638	chr14:42768255-42768256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34531247	chr14:42768256-42768257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184308100	chr14:42768268-42768269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534018839	chr14:42768288-42768289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139848858	chr14:42768289-42768290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565901397	chr14:42768332-42768333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559107136	chr14:42768346-42768347	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Bipolar disorder	19114987	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42761600-42762000	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr14:42767800-42770600	Enhancers	Primary B cells from cord blood	blood
3	chr14:42768400-42769600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:42768800-42769200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:42773600-42776600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:42774600-42777200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr14:42775200-42775400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:42775400-42776600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:42776600-42776800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:42776600-42776800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:42776600-42776800	ZNF genes & repeats	Pancreas	Pancrea
12	chr14:42779800-42780200	Enhancers	Fetal Brain Male	brain
13	chr14:42780200-42781200	Weak transcription	Fetal Brain Male	brain
14	chr14:42781200-42782200	Enhancers	Fetal Brain Female	brain
15	chr14:42781200-42783000	Enhancers	Fetal Brain Male	brain
16	chr14:42781200-42786600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:42781200-42786800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:42782000-42784000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr14:42785200-42786400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:42785800-42786200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr14:42785800-42786600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr14:42786200-42791600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr14:42786600-42789400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:42786800-42789200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:42788000-42791800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:42789200-42789800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:42789400-42789800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:42791200-42791600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr14:42791200-42793800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr14:42791600-42792800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr14:42791600-42793200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr14:42791600-42793800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr14:42791800-42793400	Enhancers	Primary B cells from cord blood	blood
34	chr14:42791800-42793400	Enhancers	Primary B cells from peripheral blood	blood
35	chr14:42793200-42793800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr14:42802800-42803000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr14:42803000-42803200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
38	chr14:42803200-42805000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr14:42804000-42805000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
40	chr14:42804200-42804400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr14:42804200-42804800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
42	chr14:42804200-42805000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr14:42804200-42805000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
44	chr14:42804200-42806200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chr14:42804400-42805800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr14:42804800-42805000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
47	chr14:42804800-42805200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
48	chr14:42805000-42805200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:42805000-42805200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr14:42805000-42805200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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