Variant report

Variant	nsv901745
Chromosome Location	chr14:42719741-42818086
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	chr14:42805184-42805444	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL11A	chr14:42792249-42792451	GM12878	blood:	n/a	n/a
5	BRCA1	chr14:42765370-42765423	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr14:42723181-42723431	HepG2	liver:	n/a	chr14:42723323-42723336
7	CEBPB	chr14:42791970-42792336	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:42758460-42758763	HepG2	liver:	n/a	chr14:42758619-42758630
9	CEBPB	chr14:42814720-42815083	HepG2	liver:	n/a	chr14:42814932-42814943
10	CEBPB	chr14:42731805-42732164	HepG2	liver:	n/a	chr14:42731982-42731993
11	CTCF	chr14:42754380-42754530	HepG2	liver:	n/a	n/a
12	CTCF	chr14:42762620-42762770	HepG2	liver:	n/a	n/a
13	CTCF	chr14:42751031-42751106	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr14:42747097-42747207	GM10248	blood:	n/a	n/a
15	CTCF	chr14:42792280-42792430	HL-60	blood:	n/a	n/a
16	CTCF	chr14:42726657-42726679	GM20000	blood:	n/a	n/a
17	CTCF	chr14:42766417-42766501	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr14:42747017-42747370	MCF-7	breast:	n/a	n/a
19	CTCF	chr14:42747082-42747239	LNCaP	prostate:	n/a	n/a
20	CTCF	chr14:42751026-42751029	Spleen_OC	spleen:	n/a	n/a
21	CTCF	chr14:42747049-42747347	MCF-7	breast:	n/a	n/a
22	CTCF	chr14:42747060-42747210	HMF	breast:	n/a	n/a
23	CTCF	chr14:42747106-42747217	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:42747153-42747187	GM13977	blood:	n/a	n/a
25	CTCF	chr14:42747020-42747170	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:42747000-42747150	HMF	breast:	n/a	n/a
27	CTCF	chr14:42747090-42747220	LNCaP	prostate:	n/a	n/a
28	CTCF	chr14:42747100-42747250	MCF-7	breast:	n/a	n/a
29	CTCF	chr14:42776625-42776650	GM13976	blood:	n/a	n/a
30	CTCF	chr14:42747121-42747204	GM10266	blood:	n/a	n/a
31	CTCF	chr14:42747142-42747183	Hela-S3	cervix:	n/a	n/a
32	CUX1	chr14:42771651-42771697	GM12878	blood:	n/a	n/a
33	CUX1	chr14:42801611-42801613	GM12878	blood:	n/a	n/a
34	CUX1	chr14:42774398-42774429	GM12878	blood:	n/a	n/a
35	E2F4	chr14:42781344-42781405	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr14:42772138-42772374	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr14:42789470-42789978	MCF10A-Er-Src	breast:	n/a	n/a
38	EBF1	chr14:42768984-42769255	GM12878	blood:	n/a	chr14:42769143-42769154 chr14:42769143-42769156
39	EBF1	chr14:42755410-42755432	GM12878	blood:	n/a	n/a
40	EBF1	chr14:42792304-42792495	GM12878	blood:	n/a	n/a
41	EBF1	chr14:42768985-42769225	GM12878	blood:	n/a	chr14:42769143-42769154 chr14:42769143-42769156
42	EBF1	chr14:42768905-42769334	GM12878	blood:	n/a	chr14:42769143-42769154 chr14:42769143-42769156
43	EP300	chr14:42792266-42792455	GM12878	blood:	n/a	n/a
44	EP300	chr14:42805099-42805489	H1-hESC	embryonic stem cell:	n/a	n/a
45	EP300	chr14:42805184-42805418	H1-hESC	embryonic stem cell:	n/a	n/a
46	EP300	chr14:42792274-42792481	GM12878	blood:	n/a	n/a
47	ESRRA	chr14:42791969-42792721	GM12878	blood:	n/a	n/a
48	FOS	chr14:42769687-42769696	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr14:42814027-42814105	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr14:42814006-42814119	MCF10A-Er-Src	breast:	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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSCB-3	chr14:42737695-42737789	ENSG00000259149
2	lnc-FSCB-3	chr14:42728934-42729156	ENSG00000259149

Variant related genes	Relation type
ENSG00000259149	TF binding region
ENSG00000222084	TF binding region

Extended variants
information (count: 1120 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1120 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55740630	chr14:42728941-42728942	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190511559	chr14:42728966-42728967	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs546824506	chr14:42728986-42728987	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs543577829	chr14:42729074-42729075	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs561746452	chr14:42729086-42729087	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs529143923	chr14:42729104-42729105	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs2306634	chr14:42729134-42729135	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs374476644	chr14:42729141-42729142	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs187575908	chr14:42737705-42737706	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs530688375	chr14:42738466-42738467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs114595630	chr14:42738483-42738484	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs28845170	chr14:42738489-42738490	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs537886917	chr14:42738492-42738493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs367863922	chr14:42738499-42738500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs8008074	chr14:42738514-42738515	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs116544256	chr14:42738517-42738518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs368206283	chr14:42738531-42738532	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs182071601	chr14:42738628-42738629	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs34622543	chr14:42738637-42738638	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572656095	chr14:42738659-42738660	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs546181211	chr14:42738664-42738665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs372340352	chr14:42738669-42738670	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs558478334	chr14:42738688-42738689	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs576350460	chr14:42738691-42738692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs543836690	chr14:42738705-42738706	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs377126016	chr14:42738733-42738734	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs565629516	chr14:42738736-42738737	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs2415719	chr14:42738950-42738951	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs113325286	chr14:42739003-42739004	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs149516792	chr14:42739053-42739054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs373449921	chr14:42739978-42739979	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs191757632	chr14:42739997-42739998	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs553040104	chr14:42741106-42741107	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs186709084	chr14:42741128-42741129	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs376329874	chr14:42741134-42741135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs149834381	chr14:42741183-42741184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs140492083	chr14:42742044-42742045	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs370856887	chr14:42742049-42742050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs558069556	chr14:42742052-42742053	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs538560517	chr14:42742065-42742066	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs2626840	chr14:42742068-42742069	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs575299816	chr14:42742088-42742089	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs536284955	chr14:42742113-42742114	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs554682119	chr14:42742135-42742136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs368582787	chr14:42742141-42742142	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs553406909	chr14:42745415-42745416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571672326	chr14:42745418-42745419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376404567	chr14:42745446-42745447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184639644	chr14:42745450-42745451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561264397	chr14:42745471-42745472	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42745400-42745600	Enhancers	Fetal Muscle Leg	muscle
2	chr14:42746200-42746400	Enhancers	Fetal Muscle Leg	muscle
3	chr14:42746200-42746800	Active TSS	Right Atrium	heart
4	chr14:42746200-42746800	Active TSS	A549	lung
5	chr14:42746400-42747000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:42746800-42747000	Flanking Active TSS	A549	lung
7	chr14:42747400-42747800	Enhancers	Primary B cells from cord blood	blood
8	chr14:42761600-42762000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr14:42767800-42770600	Enhancers	Primary B cells from cord blood	blood
10	chr14:42768400-42769600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:42768800-42769200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:42773600-42776600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:42774600-42777200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:42775200-42775400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:42775400-42776600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:42776600-42776800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:42776600-42776800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:42776600-42776800	ZNF genes & repeats	Pancreas	Pancrea
19	chr14:42779800-42780200	Enhancers	Fetal Brain Male	brain
20	chr14:42780200-42781200	Weak transcription	Fetal Brain Male	brain
21	chr14:42781200-42782200	Enhancers	Fetal Brain Female	brain
22	chr14:42781200-42783000	Enhancers	Fetal Brain Male	brain
23	chr14:42781200-42786600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:42781200-42786800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:42782000-42784000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr14:42785200-42786400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:42785800-42786200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr14:42785800-42786600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr14:42786200-42791600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:42786600-42789400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:42786800-42789200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:42788000-42791800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:42789200-42789800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:42789400-42789800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:42791200-42791600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr14:42791200-42793800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr14:42791600-42792800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr14:42791600-42793200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr14:42791600-42793800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr14:42791800-42793400	Enhancers	Primary B cells from cord blood	blood
41	chr14:42791800-42793400	Enhancers	Primary B cells from peripheral blood	blood
42	chr14:42793200-42793800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr14:42802800-42803000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr14:42803000-42803200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chr14:42803200-42805000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
46	chr14:42804000-42805000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
47	chr14:42804200-42804400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr14:42804200-42804800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
49	chr14:42804200-42805000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
50	chr14:42804200-42805000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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