Variant report

Variant	nsv901732
Chromosome Location	chr14:41758308-41803232
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	chr14:41760907-41761197	IMR90	lung:	n/a	chr14:41761068-41761079
2	CEBPB	chr14:41772732-41773141	IMR90	lung:	n/a	chr14:41772874-41772883 chr14:41772872-41772885 chr14:41772874-41772883 chr14:41772873-41772884 chr14:41772872-41772885 chr14:41772874-41772883 chr14:41772872-41772883 chr14:41772874-41772883 chr14:41772872-41772885
3	CEBPB	chr14:41760911-41761210	HepG2	liver:	n/a	chr14:41761068-41761079
4	CEBPB	chr14:41772715-41773048	A549	lung:	n/a	chr14:41772874-41772883 chr14:41772872-41772885 chr14:41772874-41772883 chr14:41772873-41772884 chr14:41772872-41772885 chr14:41772874-41772883 chr14:41772872-41772883 chr14:41772874-41772883 chr14:41772872-41772885
5	CEBPB	chr14:41801056-41801376	HepG2	liver:	n/a	chr14:41801209-41801220
6	CEBPB	chr14:41772723-41773057	ECC-1	luminal epithelium:	n/a	chr14:41772874-41772883 chr14:41772872-41772885 chr14:41772874-41772883 chr14:41772873-41772884 chr14:41772872-41772885 chr14:41772874-41772883 chr14:41772872-41772883 chr14:41772874-41772883 chr14:41772872-41772885
7	CEBPB	chr14:41772746-41773072	H1-hESC	embryonic stem cell:	n/a	chr14:41772874-41772883 chr14:41772872-41772885 chr14:41772874-41772883 chr14:41772873-41772884 chr14:41772872-41772885 chr14:41772874-41772883 chr14:41772872-41772883 chr14:41772874-41772883 chr14:41772872-41772885
8	CEBPB	chr14:41763615-41763815	HepG2	liver:	n/a	chr14:41763736-41763747
9	CEBPB	chr14:41772781-41773093	ECC-1	luminal epithelium:	n/a	chr14:41772874-41772883 chr14:41772872-41772885 chr14:41772874-41772883 chr14:41772873-41772884 chr14:41772872-41772885 chr14:41772874-41772883 chr14:41772872-41772883 chr14:41772874-41772883 chr14:41772872-41772885
10	CEBPB	chr14:41763620-41763791	A549	lung:	n/a	chr14:41763736-41763747
11	CEBPB	chr14:41772696-41773134	HepG2	liver:	n/a	chr14:41772874-41772883 chr14:41772872-41772885 chr14:41772874-41772883 chr14:41772873-41772884 chr14:41772872-41772885 chr14:41772874-41772883 chr14:41772872-41772883 chr14:41772874-41772883 chr14:41772872-41772885
12	CEBPB	chr14:41760922-41761122	A549	lung:	n/a	chr14:41761068-41761079
13	CEBPB	chr14:41771959-41772333	ECC-1	luminal epithelium:	n/a	n/a
14	CEBPB	chr14:41772728-41772983	K562	blood:	n/a	chr14:41772874-41772883 chr14:41772872-41772885 chr14:41772874-41772883 chr14:41772873-41772884 chr14:41772872-41772885 chr14:41772874-41772883 chr14:41772872-41772883 chr14:41772874-41772883 chr14:41772872-41772885
15	CEBPZ	chr14:41793109-41793167	HepG2	liver:	n/a	n/a
16	CTCF	chr14:41769220-41769370	HEK293	kidney:	n/a	n/a
17	CTCF	chr14:41769263-41769389	HepG2	liver:	n/a	n/a
18	CTCF	chr14:41769260-41769410	GM12873	blood:	n/a	n/a
19	CTCF	chr14:41769260-41769410	HepG2	liver:	n/a	n/a
20	CTCF	chr14:41769240-41769390	MCF-7	breast:	n/a	n/a
21	CTCF	chr14:41769220-41769370	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr14:41769231-41769490	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr14:41769289-41769319	LNCaP	prostate:	n/a	n/a
24	CTCF	chr14:41769300-41769450	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr14:41769243-41769377	MCF-7	breast:	n/a	n/a
26	CTCF	chr14:41769180-41769330	BE2_C	brain:	n/a	n/a
27	CTCF	chr14:41777820-41777970	HCM	heart:	n/a	n/a
28	CTCF	chr14:41769258-41769351	Gliobla	brain:	n/a	n/a
29	CTCF	chr14:41769160-41769310	MCF-7	breast:	n/a	n/a
30	CTCF	chr14:41769227-41769406	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:41769260-41769410	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr14:41769219-41769408	HepG2	liver:	n/a	n/a
33	CTCF	chr14:41769211-41769365	LNCaP	prostate:	n/a	n/a
34	CTCF	chr14:41787560-41787710	MCF-7	breast:	n/a	n/a
35	CTCF	chr14:41769180-41769330	RPTEC	kidney:	n/a	n/a
36	CTCF	chr14:41769257-41769397	GM13977	blood:	n/a	n/a
37	CTCF	chr14:41797679-41797720	LNCaP	prostate:	n/a	n/a
38	CTCF	chr14:41769284-41769353	K562	blood:	n/a	n/a
39	CTCF	chr14:41802438-41802476	Lung_OC	lung:	n/a	n/a
40	CTCF	chr14:41787503-41787598	MCF-7	breast:	n/a	n/a
41	CTCF	chr14:41769240-41769390	NB4	blood:	n/a	n/a
42	CTCF	chr14:41769280-41769430	HepG2	liver:	n/a	n/a
43	CTCF	chr14:41787479-41787578	LNCaP	prostate:	n/a	n/a
44	CTCF	chr14:41787544-41787590	LNCaP	prostate:	n/a	n/a
45	CTCF	chr14:41787540-41787690	HPAF	blood vessel:	n/a	n/a
46	EP300	chr14:41771889-41772591	ECC-1	luminal epithelium:	n/a	n/a
47	EP300	chr14:41763750-41763833	HepG2	liver:	n/a	n/a
48	FAM48A	chr14:41787708-41787833	GM12878	blood:	n/a	n/a
49	FOXP2	chr14:41782420-41782913	SK-N-MC	brain:	n/a	n/a
50	GATA3	chr14:41782856-41783141	SH-SY5Y	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:41771257-41771307	BJ	skin:	n/a
2	chr14:41771257-41771307	BJ	skin:	n/a
3	chr14:41771257-41771307	NB4	blood:	n/a
4	chr14:41771257-41771307	HRCEpiC	kidney:	n/a
5	chr14:41771257-41771307	HNPCEpiC	eye:	n/a
6	chr14:41771257-41771307	Hepatocyte	liver:	n/a
7	chr14:41771257-41771307	PANC-1	pancreas:	n/a
8	chr14:41771257-41771307	SKMC	muscle:	n/a
9	chr14:41771257-41771307	H1-hESC	embryonic stem cell:	embryo
10	chr14:41771257-41771307	MCF-7	breast:	n/a
11	chr14:41771257-41771307	SK-N-SH_RA	brain:	n/a
12	chr14:41771257-41771307	ovcar-3	ovarian:	n/a
13	chr14:41771257-41771307	AG09309	skin:	n/a
14	chr14:41771257-41771307	SAEC	small airway:	n/a
15	chr14:41771257-41771307	HAEpiC	amniotic membrane:	n/a
16	chr14:41771257-41771307	HEEpiC	esophagus:	n/a
17	chr14:41771257-41771307	SK-N-SH	brain:	n/a
18	chr14:41771257-41771307	HMEC	breast:	n/a
19	chr14:41771257-41771307	ProgFib	skin:	n/a
20	chr14:41771257-41771307	A549	lung:	n/a
21	chr14:41771257-41771307	HRPEpiC	eye:	n/a
22	chr14:41771257-41771307	NT2-D1	testis:	n/a
23	chr14:41771257-41771307	ECC-1	luminal epithelium:	n/a
24	chr14:41771257-41771307	NH-A	brain:	n/a
25	chr14:41771257-41771307	Jurkat	blood:	n/a
26	chr14:41771257-41771307	AG04449	skin:	fetal
27	chr14:41771257-41771307	HCM	heart:	n/a
28	chr14:41771257-41771307	PFSK-1	brain:	n/a
29	chr14:41771257-41771307	GM19239	blood:	n/a
30	chr14:41771257-41771307	PrEC	prostate:	n/a
31	chr14:41771257-41771307	U87	brain:	n/a
32	chr14:41771257-41771307	HEK293	kidney:	embryo
33	chr14:41771257-41771307	MCF10A-Er-Src	breast:	n/a
34	chr14:41771257-41771307	IMR90	lung:	fetal
35	chr14:41771257-41771307	GM12878	blood:	n/a
36	chr14:41771257-41771307	AoSMC	blood vessel:	n/a
37	chr14:41771257-41771307	HPAEpiC	pulmonary alveolar:	n/a
38	chr14:41771257-41771307	HIPEpiC	eye:	n/a
39	chr14:41771257-41771307	NHBE	bronchial:	n/a
40	chr14:41771257-41771307	GM12892	blood:	n/a
41	chr14:41771257-41771307	HCPEpiC	choroid plexus:	n/a
42	chr14:41771257-41771307	RPTEC	kidney:	n/a
43	chr14:41771257-41771307	HL-60	blood:	n/a
44	chr14:41771257-41771307	Caco-2	colon:	n/a
45	chr14:41771257-41771307	T-47D	breast:	n/a
46	chr14:41771257-41771307	Hela-S3	cervix:	n/a
47	chr14:41771257-41771307	AG04450	lung:	fetal
48	chr14:41771257-41771307	GM06990	blood:	n/a
49	chr14:41771257-41771307	HCT-116	colon:	n/a
50	chr14:41771257-41771307	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:41792593..41793113-chr2:63668078..63668598,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRFN5-5	chr14:41765489-41767937	NONHSAT036568

Variant related genes	Relation type
ENSG00000258385	TF binding region
ENSG00000258385	CpG island
ENSG00000143951	chromatin interactions

Extended variants
information (count: 404 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564979522	chr14:41761014-41761015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs532209316	chr14:41761024-41761025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs550813600	chr14:41761056-41761057	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs569435416	chr14:41761073-41761074	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs530023063	chr14:41761114-41761115	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs575882993	chr14:41761138-41761139	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs539928150	chr14:41761235-41761236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs548455059	chr14:41761241-41761242	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs570474070	chr14:41761913-41761914	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs114294237	chr14:41761914-41761915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs549861958	chr14:41761931-41761932	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs568345080	chr14:41761935-41761936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs536033937	chr14:41761940-41761941	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs554041816	chr14:41761947-41761948	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs572718861	chr14:41761981-41761982	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs539694853	chr14:41762007-41762008	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs558593638	chr14:41762019-41762020	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs532794651	chr14:41762024-41762025	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs181834777	chr14:41762053-41762054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs185191954	chr14:41762101-41762102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs1652926	chr14:41762112-41762113	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190776260	chr14:41762113-41762114	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs73625310	chr14:41762379-41762380	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs183422809	chr14:41762412-41762413	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs535548178	chr14:41762413-41762414	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs183110684	chr14:41762878-41762879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564025079	chr14:41762900-41762901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558352717	chr14:41762933-41762934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565932161	chr14:41762935-41762936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368266615	chr14:41762939-41762940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76096837	chr14:41763028-41763029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543436184	chr14:41763029-41763030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150873086	chr14:41763032-41763033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201325384	chr14:41763047-41763048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529395036	chr14:41763069-41763070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs76312520	chr14:41763079-41763080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75297873	chr14:41763098-41763099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547562958	chr14:41763103-41763104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566307952	chr14:41763117-41763118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80288250	chr14:41763121-41763122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187400953	chr14:41763165-41763166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554900607	chr14:41763204-41763205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552135970	chr14:41763232-41763233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs1652923	chr14:41763288-41763289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs537711560	chr14:41763298-41763299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375202835	chr14:41763313-41763314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551250887	chr14:41763317-41763318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113248068	chr14:41763327-41763328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533404011	chr14:41763373-41763374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535584279	chr14:41763387-41763388	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	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

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41762800-41763600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:41764400-41766200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:41766200-41767200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:41766800-41767200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:41766800-41767600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:41767000-41767400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:41767400-41767800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:41767400-41767800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:41767600-41770400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:41769000-41769600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:41769200-41769400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:41769400-41770000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr14:41769400-41770800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr14:41769600-41770000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr14:41770000-41770600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr14:41770000-41770800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:41770000-41772000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr14:41770000-41772400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:41770200-41770400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr14:41770200-41770800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:41770200-41772200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr14:41770400-41771800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:41770400-41773000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:41770600-41771600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:41770600-41771800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:41770800-41771200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:41770800-41771200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:41770800-41771200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:41771200-41772400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr14:41771200-41772400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr14:41771200-41772400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:41771600-41772400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:41771600-41773200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:41771800-41772400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr14:41772400-41773600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr14:41773600-41774000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:41799200-41799600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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