Variant report

Variant	nsv1049840
Chromosome Location	chr14:46381820-46475918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:275)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:46441158-46441496	A549	lung:	n/a	chr14:46441316-46441327
2	CEBPB	chr14:46388556-46388893	A549	lung:	n/a	chr14:46388709-46388720
3	CEBPB	chr14:46388507-46388949	MCF-7	breast:	n/a	chr14:46388709-46388720
4	CEBPB	chr14:46441175-46441403	HepG2	liver:	n/a	chr14:46441316-46441327
5	CEBPB	chr14:46388459-46388948	MCF-7	breast:	n/a	chr14:46388709-46388720
6	CEBPB	chr14:46441220-46441420	H1-hESC	embryonic stem cell:	n/a	chr14:46441316-46441327
7	CEBPB	chr14:46388540-46388897	IMR90	lung:	n/a	chr14:46388709-46388720
8	CEBPB	chr14:46388540-46388874	HepG2	liver:	n/a	chr14:46388709-46388720
9	CTCF	chr14:46459660-46459810	GM12878	blood:	n/a	n/a
10	CTCF	chr14:46459645-46459728	HepG2	liver:	n/a	n/a
11	CTCF	chr14:46459580-46459730	Caco-2	colon:	n/a	n/a
12	CTCF	chr14:46459600-46459750	HRE	kidney:	n/a	n/a
13	CTCF	chr14:46445789-46445934	MCF-7	breast:	n/a	n/a
14	CTCF	chr14:46459560-46459710	HRE	kidney:	n/a	n/a
15	CTCF	chr14:46409714-46409755	GM10248	blood:	n/a	n/a
16	CTCF	chr14:46409488-46409958	MCF-7	breast:	n/a	n/a
17	CTCF	chr14:46445820-46445970	HMEC	breast:	n/a	n/a
18	CTCF	chr14:46409740-46409890	RPTEC	kidney:	n/a	n/a
19	CTCF	chr14:46407820-46407856	GM20000	blood:	n/a	n/a
20	CTCF	chr14:46459660-46459810	AG04449	skin:	n/a	n/a
21	CTCF	chr14:46459600-46459750	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr14:46459631-46459753	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr14:46459640-46459790	GM12870	blood:	n/a	n/a
24	CTCF	chr14:46409660-46409910	NHDF-neo	bronchial:	n/a	n/a
25	CTCF	chr14:46459600-46459750	AoAF	blood vessel:	n/a	n/a
26	CTCF	chr14:46459580-46459730	GM12864	blood:	n/a	n/a
27	CTCF	chr14:46459675-46459875	K562	blood:	n/a	n/a
28	CTCF	chr14:46445768-46445938	MCF-7	breast:	n/a	n/a
29	CTCF	chr14:46459400-46459550	GM12871	blood:	n/a	n/a
30	CTCF	chr14:46403102-46403173	GM10248	blood:	n/a	n/a
31	CTCF	chr14:46459580-46459730	SAEC	small airway:	n/a	n/a
32	CTCF	chr14:46459600-46459750	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr14:46459500-46459650	HL-60	blood:	n/a	n/a
34	CTCF	chr14:46459540-46459690	HCT-116	colon:	n/a	n/a
35	CTCF	chr14:46459360-46459510	WI-38	lung:	n/a	n/a
36	CTCF	chr14:46464232-46464279	Fibrobl	skin:	n/a	n/a
37	CTCF	chr14:46459620-46459770	NHLF	lung:	n/a	n/a
38	CTCF	chr14:46459600-46459750	MCF-7	breast:	n/a	n/a
39	CTCF	chr14:46459580-46459730	GM12865	blood:	n/a	n/a
40	CTCF	chr14:46459660-46459810	AG04450	lung:	n/a	n/a
41	CTCF	chr14:46459580-46459730	HMF	breast:	n/a	n/a
42	CTCF	chr14:46459580-46459730	HEEpiC	esophagus:	n/a	n/a
43	CTCF	chr14:46409620-46409770	BE2_C	brain:	n/a	n/a
44	CTCF	chr14:46459560-46459710	GM12872	blood:	n/a	n/a
45	CTCF	chr14:46459580-46459730	GM12869	blood:	n/a	n/a
46	CTCF	chr14:46459680-46459830	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr14:46409708-46409768	GM13977	blood:	n/a	n/a
48	CTCF	chr14:46459540-46459690	MCF-7	breast:	n/a	n/a
49	CTCF	chr14:46459640-46459790	HVMF	connective:	n/a	n/a
50	CTCF	chr14:46459620-46459770	AG04450	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:46385119..46386937-chr14:46388253..46390395,2	MCF-7	breast:
2	chr14:46375125..46377270-chr14:46379726..46383333,3	K562	blood:
3	chr12:122908054..122908892-chr14:46408991..46409734,2	MCF-7	breast:
4	chr14:46308036..46308555-chr14:46409283..46409960,2	MCF-7	breast:
5	chr14:46385119..46386937-chr14:46388253..46390395,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCM-6	chr14:46410146-46410221	ENSG00000258700

No data

Variant related genes	Relation type
LINC00871	TF binding region

Extended variants
information (count: 480 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:480 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183012796	chr14:46385417-46385418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553136235	chr14:46385493-46385494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534468837	chr14:46385495-46385496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577603498	chr14:46385501-46385502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140336063	chr14:46385510-46385511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548279375	chr14:46385534-46385535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557009553	chr14:46385543-46385544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369945628	chr14:46385562-46385563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117629254	chr14:46385575-46385576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79160866	chr14:46385608-46385609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs72621076	chr14:46385724-46385725	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs528423163	chr14:46385778-46385779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554768401	chr14:46385808-46385809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540512272	chr14:46385821-46385822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564883395	chr14:46385824-46385825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532097703	chr14:46385836-46385837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376182818	chr14:46385864-46385865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116574894	chr14:46385896-46385897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529797060	chr14:46385938-46385939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187588477	chr14:46385945-46385946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150332423	chr14:46385964-46385965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112639605	chr14:46385979-46385980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556456919	chr14:46385988-46385989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553586737	chr14:46385989-46385990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571087484	chr14:46386019-46386020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11849656	chr14:46386034-46386035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs34944196	chr14:46386042-46386043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531275032	chr14:46386100-46386101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79179787	chr14:46386144-46386145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540149104	chr14:46386244-46386245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573183848	chr14:46386273-46386274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556923394	chr14:46386333-46386334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192420790	chr14:46386405-46386406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs137970305	chr14:46386413-46386414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375420713	chr14:46386417-46386418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554508679	chr14:46386426-46386427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183178825	chr14:46386496-46386497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572953413	chr14:46386505-46386506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2145948	chr14:46386511-46386512	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs116923063	chr14:46386554-46386555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576928698	chr14:46386571-46386572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544257919	chr14:46386618-46386619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs552313491	chr14:46386620-46386621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576446769	chr14:46386640-46386641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529795610	chr14:46386681-46386682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200187986	chr14:46386719-46386720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115707202	chr14:46386720-46386721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542399125	chr14:46386725-46386726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187602127	chr14:46386733-46386734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541843980	chr14:46386745-46386746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46385400-46386200	Enhancers	Rectal Smooth Muscle	rectum
2	chr14:46385600-46385800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:46385800-46388600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:46388600-46390200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:46389000-46389800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:46389000-46390000	Enhancers	HMEC	breast
7	chr14:46389200-46390000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:46389200-46390000	Enhancers	NHEK	skin
9	chr14:46403800-46404400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:46415200-46416800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:46421000-46421600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr14:46433200-46433600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr14:46444600-46446200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:46445000-46446000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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