Variant report

Variant	nsv974334
Chromosome Location	chr14:45757028-45759503
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	chr14:45757725-45757874	IMR90	lung:	n/a	n/a
2	CTCF	chr14:45756920-45757096	Hela-S3	cervix:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
3	CTCF	chr14:45756964-45757086	K562	blood:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
4	CTCF	chr14:45756915-45757120	MCF-7	breast:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
5	CTCF	chr14:45756960-45757110	HMEC	breast:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
6	CTCF	chr14:45756960-45757110	BE2_C	brain:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
7	CTCF	chr14:45756940-45757090	RPTEC	kidney:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
8	CTCF	chr14:45756940-45757090	MCF-7	breast:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
9	CTCF	chr14:45756957-45757077	HepG2	liver:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
10	CTCF	chr14:45756940-45757090	BE2_C	brain:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
11	CTCF	chr14:45756920-45757070	MCF-7	breast:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
12	CTCF	chr14:45756883-45757125	Medullo	brain:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
13	CTCF	chr14:45756938-45757078	MCF-7	breast:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
14	CTCF	chr14:45756960-45757110	HRPEpiC	eye:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
15	CTCF	chr14:45756943-45757043	HepG2	liver:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
16	CTCF	chr14:45756900-45757050	HBMEC	blood vessel:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
17	CTCF	chr14:45756907-45757120	LNCaP	prostate:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
18	CTCF	chr14:45756906-45757113	LNCaP	prostate:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
19	CTCF	chr14:45756979-45757037	GM10248	blood:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
20	CTCF	chr14:45756900-45757050	HMF	breast:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
21	CTCF	chr14:45756880-45757030	HRE	kidney:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
22	CTCF	chr14:45756891-45757226	MCF-7	breast:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
23	CTCF	chr14:45756826-45757078	H1-hESC	embryonic stem cell:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
24	CTCF	chr14:45756940-45757090	Caco-2	colon:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
25	CTCF	chr14:45756940-45757090	HRPEpiC	eye:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
26	CTCF	chr14:45756746-45757251	MCF-7	breast:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
27	CTCF	chr14:45756900-45757050	GM06990	blood:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
28	CTCF	chr14:45756920-45757070	WERI-Rb-1	eye:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
29	CTCF	chr14:45756892-45757140	A549	lung:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
30	CTCF	chr14:45757000-45757150	RPTEC	kidney:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
31	CTCF	chr14:45756755-45757247	HCT-116	colon:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
32	CTCF	chr14:45756987-45757049	Gliobla	brain:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
33	CTCF	chr14:45756879-45757144	GM12878	blood:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
34	CTCF	chr14:45759190-45759262	MCF-7	breast:	n/a	chr14:45759205-45759214
35	CTCF	chr14:45756939-45757063	HUVEC	blood vessel:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
36	CTCF	chr14:45756881-45757149	K562	blood:	n/a	chr14:45757001-45757019 chr14:45757006-45757014 chr14:45757002-45757018 chr14:45757003-45757024
37	MEF2A	chr14:45757018-45757354	GM12878	blood:	n/a	n/a
38	MEF2C	chr14:45757025-45757282	GM12878	blood:	n/a	n/a
39	MYC	chr14:45759123-45759283	MCF-7	breast:	n/a	n/a
40	MYC	chr14:45756957-45757051	MCF10A-Er-Src	breast:	n/a	n/a
41	NFIC	chr14:45756975-45757393	GM12878	blood:	n/a	n/a
42	POLR2A	chr14:45759169-45759247	MCF-7	breast:	n/a	n/a
43	POLR2A	chr14:45759431-45759553	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr14:45759148-45759286	MCF-7	breast:	n/a	n/a
45	RAD21	chr14:45756763-45757179	HCT-116	colon:	n/a	chr14:45757004-45757011
46	RAD21	chr14:45756813-45757182	A549	lung:	n/a	chr14:45757004-45757011
47	RAD21	chr14:45756868-45757199	Hela-S3	cervix:	n/a	chr14:45757004-45757011
48	RAD21	chr14:45756845-45757197	H1-hESC	embryonic stem cell:	n/a	chr14:45757004-45757011
49	RAD21	chr14:45756925-45757113	SK-N-SH_RA	brain:	n/a	chr14:45757004-45757011
50	RAD21	chr14:45756934-45757059	SK-N-SH_RA	brain:	n/a	chr14:45757004-45757011

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:45759143-45759193	GM12892	blood:	n/a
2	chr14:45759143-45759193	AG09319	gingival:	n/a
3	chr14:45759143-45759193	MCF-7	breast:	n/a
4	chr14:45759143-45759193	HRPEpiC	eye:	n/a
5	chr14:45759143-45759193	Jurkat	blood:	n/a
6	chr14:45759143-45759193	RPTEC	kidney:	n/a
7	chr14:45759143-45759193	H1-hESC	embryonic stem cell:	embryo
8	chr14:45759143-45759193	A549	lung:	n/a
9	chr14:45759143-45759193	AG09309	skin:	n/a
10	chr14:45759143-45759193	SK-N-MC	brain:	n/a
11	chr14:45759143-45759193	NHBE	bronchial:	n/a
12	chr14:45759143-45759193	GM12878	blood:	n/a
13	chr14:45759143-45759193	BE2_C	brain:	n/a
14	chr14:45759143-45759193	AoSMC	blood vessel:	n/a
15	chr14:45759143-45759193	HCT-116	colon:	n/a
16	chr14:45759143-45759193	ProgFib	skin:	n/a
17	chr14:45759143-45759193	PFSK-1	brain:	n/a
18	chr14:45759143-45759193	T-47D	breast:	n/a
19	chr14:45759143-45759193	HCF	heart:	n/a
20	chr14:45759143-45759193	NT2-D1	testis:	n/a
21	chr14:45759143-45759193	Hela-S3	cervix:	n/a
22	chr14:45759143-45759193	BJ	skin:	n/a
23	chr14:45759143-45759193	IMR90	lung:	fetal
24	chr14:45759143-45759193	NHDF-neo	bronchial:	n/a
25	chr14:45759143-45759193	GM12891	blood:	n/a
26	chr14:45759143-45759193	AG04450	lung:	fetal
27	chr14:45759143-45759193	SK-N-SH_RA	brain:	n/a
28	chr14:45759143-45759193	Hepatocyte	liver:	n/a
29	chr14:45759143-45759193	ovcar-3	ovarian:	n/a
30	chr14:45759143-45759193	GM06990	blood:	n/a
31	chr14:45759143-45759193	PANC-1	pancreas:	n/a
32	chr14:45759143-45759193	HIPEpiC	eye:	n/a
33	chr14:45759143-45759193	HepG2	liver:	n/a
34	chr14:45759143-45759193	NH-A	brain:	n/a
35	chr14:45759143-45759193	HPAEpiC	pulmonary alveolar:	n/a
36	chr14:45759143-45759193	HUVEC	blood vessel:	n/a
37	chr14:45759143-45759193	HEK293	kidney:	embryo
38	chr14:45759143-45759193	HRE	kidney:	n/a
39	chr14:45759143-45759193	CMK	blood:	n/a
40	chr14:45759143-45759193	GM19239	blood:	n/a
41	chr14:45759143-45759193	MCF10A-Er-Src	breast:	n/a
42	chr14:45759143-45759193	HNPCEpiC	eye:	n/a
43	chr14:45759143-45759193	HL-60	blood:	n/a
44	chr14:45759143-45759193	HCM	heart:	n/a
45	chr14:45759143-45759193	AG04449	skin:	fetal
46	chr14:45759143-45759193	Caco-2	colon:	n/a
47	chr14:45759143-45759193	NB4	blood:	n/a
48	chr14:45759143-45759193	HMEC	breast:	n/a
49	chr14:45759143-45759193	U87	brain:	n/a
50	chr14:45759143-45759193	SKMC	muscle:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FANCM-8	chr14:45759448-45759479	NONHSAT036652
2	lnc-FANCM-8	chr14:45759209-45759392	NONHSAT036653
3	lnc-FANCM-8	chr14:45759239-45759589	NONHSAT036654
4	lnc-FANCM-8	chr14:45759448-45759483	NONHSAT036653
5	lnc-FANCM-8	chr14:45759144-45759367	NONHSAT036652

Variant related genes	Relation type
DNAJC19P9	TF binding region
DNAJC19P9	CpG island

Extended variants
information (count: 44 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148317426	chr14:45757075-45757076	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs567845053	chr14:45757101-45757102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs74714396	chr14:45757134-45757135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs186044327	chr14:45757184-45757185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs140506177	chr14:45757245-45757246	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs190314677	chr14:45757256-45757257	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs182558301	chr14:45757257-45757258	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs185321101	chr14:45757260-45757261	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs76982759	chr14:45757286-45757287	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs567531671	chr14:45757291-45757292	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs535362976	chr14:45757293-45757294	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs150398464	chr14:45757308-45757309	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs571583318	chr14:45757350-45757351	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs113093455	chr14:45757352-45757353	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs531062340	chr14:45757798-45757799	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs549194362	chr14:45757810-45757811	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs138164123	chr14:45757814-45757815	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs567716277	chr14:45757919-45757920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs35573899	chr14:45759125-45759126	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs397734487	chr14:45759134-45759135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs62000306	chr14:45759139-45759140	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs148634589	chr14:45759148-45759149	Inactive region	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs77745360	chr14:45759162-45759163	Inactive region	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs574630708	chr14:45759196-45759197	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs372869993	chr14:45759232-45759233	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs541670972	chr14:45759246-45759247	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs560287999	chr14:45759276-45759277	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs386777048	chr14:45759280-45759281	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs114744485	chr14:45759281-45759282	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs115939305	chr14:45759282-45759283	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs372918865	chr14:45759297-45759298	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs182403911	chr14:45759309-45759310	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs150718165	chr14:45759321-45759322	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs563042597	chr14:45759344-45759345	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs530378130	chr14:45759363-45759364	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs11547439	chr14:45759368-45759369	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs139498896	chr14:45759378-45759379	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs184551625	chr14:45759419-45759420	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs188996806	chr14:45759428-45759429	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs373131342	chr14:45759452-45759453	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs552317573	chr14:45759468-45759469	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs181434126	chr14:45759483-45759484	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs537448698	chr14:45759488-45759489	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs1957395	chr14:45759489-45759490	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

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
Bipolar disorder	19114987	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45757800-45758000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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