Variant report

Variant	nsv564558
Chromosome Location	chr14:41770523-41824382
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	chr14:41801056-41801376	HepG2	liver:	n/a	chr14:41801209-41801220
2	CEBPB	chr14:41771959-41772333	ECC-1	luminal epithelium:	n/a	n/a
3	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
4	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
5	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
6	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
7	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
8	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
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	CEBPZ	chr14:41793109-41793167	HepG2	liver:	n/a	n/a
11	CTCF	chr14:41802438-41802476	Lung_OC	lung:	n/a	n/a
12	CTCF	chr14:41787540-41787690	HPAF	blood vessel:	n/a	n/a
13	CTCF	chr14:41787479-41787578	LNCaP	prostate:	n/a	n/a
14	CTCF	chr14:41797679-41797720	LNCaP	prostate:	n/a	n/a
15	CTCF	chr14:41812722-41812833	GM13976	blood:	n/a	n/a
16	CTCF	chr14:41805585-41805622	GM10248	blood:	n/a	n/a
17	CTCF	chr14:41787560-41787710	MCF-7	breast:	n/a	n/a
18	CTCF	chr14:41787544-41787590	LNCaP	prostate:	n/a	n/a
19	CTCF	chr14:41787503-41787598	MCF-7	breast:	n/a	n/a
20	CTCF	chr14:41777820-41777970	HCM	heart:	n/a	n/a
21	CTCF	chr14:41810756-41810812	GM13976	blood:	n/a	n/a
22	E2F4	chr14:41823575-41823730	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr14:41771889-41772591	ECC-1	luminal epithelium:	n/a	n/a
24	FAM48A	chr14:41787708-41787833	GM12878	blood:	n/a	n/a
25	FOS	chr14:41817955-41818281	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr14:41817991-41818263	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr14:41817971-41818266	MCF10A-Er-Src	breast:	n/a	n/a
28	FOXP2	chr14:41782420-41782913	SK-N-MC	brain:	n/a	n/a
29	GATA3	chr14:41817162-41817412	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr14:41782856-41783141	SH-SY5Y	brain:	n/a	n/a
31	JUN	chr14:41813064-41813070	HepG2	liver:	n/a	n/a
32	MAFF	chr14:41813091-41813411	HepG2	liver:	n/a	chr14:41813244-41813262
33	MAFF	chr14:41824202-41824376	HepG2	liver:	n/a	chr14:41824262-41824280
34	MAFK	chr14:41813097-41813412	HepG2	liver:	n/a	chr14:41813247-41813258 chr14:41813247-41813258 chr14:41813245-41813259 chr14:41813246-41813261 chr14:41813246-41813257 chr14:41813246-41813262 chr14:41813246-41813257
35	MAFK	chr14:41813098-41813427	HepG2	liver:	n/a	chr14:41813247-41813258 chr14:41813247-41813258 chr14:41813245-41813259 chr14:41813246-41813261 chr14:41813246-41813257 chr14:41813246-41813262 chr14:41813246-41813257
36	MAZ	chr14:41774627-41774785	HepG2	liver:	n/a	n/a
37	MYC	chr14:41819746-41819847	MCF-7	breast:	n/a	n/a
38	MYC	chr14:41819754-41819993	MCF-7	breast:	n/a	n/a
39	MYC	chr14:41772274-41772279	H1-hESC	embryonic stem cell:	n/a	n/a
40	MYC	chr14:41771082-41771212	MCF10A-Er-Src	breast:	n/a	n/a
41	MYC	chr14:41819850-41819965	MCF-7	breast:	n/a	n/a
42	NANOG	chr14:41772078-41772301	H1-hESC	embryonic stem cell:	n/a	n/a
43	NFIC	chr14:41771939-41772437	ECC-1	luminal epithelium:	n/a	n/a
44	NFYB	chr14:41772722-41772923	GM12878	blood:	n/a	n/a
45	NFYB	chr14:41773711-41773911	GM12878	blood:	n/a	n/a
46	POLR2A	chr14:41818945-41818963	MCF-7	breast:	n/a	n/a
47	POLR2A	chr14:41782343-41782767	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr14:41779808-41780074	GM12878	blood:	n/a	n/a
49	POLR2A	chr14:41819699-41820005	MCF-7	breast:	n/a	n/a
50	POLR2A	chr14:41797570-41797703	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:41771257-41771307	GM12891	blood:	n/a
2	chr14:41771257-41771307	T-47D	breast:	n/a
3	chr14:41771257-41771307	HCPEpiC	choroid plexus:	n/a
4	chr14:41771257-41771307	Jurkat	blood:	n/a
5	chr14:41771257-41771307	SAEC	small airway:	n/a
6	chr14:41771257-41771307	HNPCEpiC	eye:	n/a
7	chr14:41771257-41771307	HepG2	liver:	n/a
8	chr14:41771257-41771307	MCF-7	breast:	n/a
9	chr14:41771257-41771307	AG04449	skin:	fetal
10	chr14:41771257-41771307	Hela-S3	cervix:	n/a
11	chr14:41771257-41771307	PANC-1	pancreas:	n/a
12	chr14:41771257-41771307	SKMC	muscle:	n/a
13	chr14:41771257-41771307	GM19239	blood:	n/a
14	chr14:41771257-41771307	U87	brain:	n/a
15	chr14:41771257-41771307	AG09309	skin:	n/a
16	chr14:41771257-41771307	H1-hESC	embryonic stem cell:	embryo
17	chr14:41771257-41771307	GM12892	blood:	n/a
18	chr14:41771257-41771307	Hepatocyte	liver:	n/a
19	chr14:41771257-41771307	K562	blood:	n/a
20	chr14:41771257-41771307	ProgFib	skin:	n/a
21	chr14:41771257-41771307	HMEC	breast:	n/a
22	chr14:41771257-41771307	AG10803	skin:	n/a
23	chr14:41771257-41771307	PrEC	prostate:	n/a
24	chr14:41771257-41771307	HL-60	blood:	n/a
25	chr14:41771257-41771307	NHDF-neo	bronchial:	n/a
26	chr14:41771257-41771307	NH-A	brain:	n/a
27	chr14:41771257-41771307	RPTEC	kidney:	n/a
28	chr14:41771257-41771307	A549	lung:	n/a
29	chr14:41771257-41771307	HEEpiC	esophagus:	n/a
30	chr14:41771257-41771307	BE2_C	brain:	n/a
31	chr14:41771257-41771307	HCT-116	colon:	n/a
32	chr14:41771257-41771307	AoSMC	blood vessel:	n/a
33	chr14:41771257-41771307	NB4	blood:	n/a
34	chr14:41771257-41771307	AG04450	lung:	fetal
35	chr14:41771257-41771307	HCF	heart:	n/a
36	chr14:41771257-41771307	IMR90	lung:	fetal
37	chr14:41771257-41771307	SK-N-SH	brain:	n/a
38	chr14:41771257-41771307	HUVEC	blood vessel:	n/a
39	chr14:41771257-41771307	PFSK-1	brain:	n/a
40	chr14:41771257-41771307	HRCEpiC	kidney:	n/a
41	chr14:41771257-41771307	CMK	blood:	n/a
42	chr14:41771257-41771307	HCM	heart:	n/a
43	chr14:41771257-41771307	GM12878	blood:	n/a
44	chr14:41771257-41771307	HAEpiC	amniotic membrane:	n/a
45	chr14:41771257-41771307	SK-N-MC	brain:	n/a
46	chr14:41771257-41771307	Caco-2	colon:	n/a
47	chr14:41771257-41771307	BJ	skin:	n/a
48	chr14:41771257-41771307	NHBE	bronchial:	n/a
49	chr14:41771257-41771307	LNCaP	prostate:	n/a
50	chr14:41771257-41771307	ovcar-3	ovarian:	n/a

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

Variant related genes	Relation type
ENSG00000221695	TF binding region
ENSG00000221695	CpG island
ENSG00000143951	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2802067	chr14:41770523-41770524	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113600203	chr14:41770627-41770628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35273218	chr14:41770696-41770697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186088026	chr14:41770737-41770738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536488424	chr14:41770740-41770741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543926871	chr14:41770964-41770965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562060066	chr14:41771001-41771002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375799318	chr14:41771050-41771051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188197192	chr14:41771138-41771139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559948468	chr14:41771140-41771141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533711783	chr14:41771145-41771146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552101248	chr14:41771151-41771152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570489768	chr14:41771158-41771159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75357576	chr14:41771174-41771175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576216970	chr14:41771264-41771265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568065083	chr14:41771314-41771315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535490902	chr14:41771373-41771374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369466011	chr14:41771420-41771421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181423880	chr14:41771429-41771430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10135526	chr14:41771455-41771456	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs113674698	chr14:41771489-41771490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557612313	chr14:41771524-41771525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185745401	chr14:41771546-41771547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543476112	chr14:41771557-41771558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141018305	chr14:41771609-41771610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574061817	chr14:41771641-41771642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190062612	chr14:41771743-41771744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541530618	chr14:41771751-41771752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200587698	chr14:41771754-41771755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183528977	chr14:41771844-41771845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186837878	chr14:41771877-41771878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552137985	chr14:41771969-41771970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192086381	chr14:41771999-41772000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577909719	chr14:41772007-41772008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4899908	chr14:41772027-41772028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs370462469	chr14:41772055-41772056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183980379	chr14:41772080-41772081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187780232	chr14:41772138-41772139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535217786	chr14:41772154-41772155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547067187	chr14:41772157-41772158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565570197	chr14:41772168-41772169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561859343	chr14:41772177-41772178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs532150418	chr14:41772179-41772180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539263133	chr14:41772191-41772192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1782165	chr14:41772214-41772215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2798983	chr14:41772233-41772234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs371444115	chr14:41772308-41772309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572382727	chr14:41772324-41772325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555521299	chr14:41772338-41772339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552383208	chr14:41772341-41772342	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41769400-41770800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr14:41770000-41770600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr14:41770000-41770800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:41770000-41772000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr14:41770000-41772400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr14:41770200-41770800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:41770200-41772200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:41770400-41771800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:41770400-41773000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:41770600-41771600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr14:41770600-41771800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:41770800-41771200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:41770800-41771200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:41770800-41771200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:41771200-41772400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr14:41771200-41772400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr14:41771200-41772400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:41771600-41772400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:41771600-41773200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:41771800-41772400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr14:41772400-41773600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:41773600-41774000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:41799200-41799600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:41817200-41818600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:41817200-41818800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:41818400-41819000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:41819400-41820000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:41819800-41820000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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