Variant report

Variant	nsv983932
Chromosome Location	chr14:24967593-24993536
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	BHLHE40	chr14:24977363-24977725	GM12878	blood:	n/a	n/a
2	BHLHE40	chr14:24988161-24988425	GM12878	blood:	n/a	chr14:24988285-24988298 chr14:24988287-24988296 chr14:24988287-24988296 chr14:24988288-24988297
3	CEBPB	chr14:24991135-24991276	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:24984093-24984194	HepG2	liver:	n/a	chr14:24984150-24984161
5	CEBPB	chr14:24991550-24991602	HepG2	liver:	n/a	chr14:24991553-24991564
6	CEBPB	chr14:24985169-24985265	HepG2	liver:	n/a	n/a
7	CTCF	chr14:24974780-24974930	GM06990	blood:	n/a	n/a
8	CTCF	chr14:24970720-24970870	HRE	kidney:	n/a	n/a
9	CTCF	chr14:24992040-24992190	AG04450	lung:	n/a	n/a
10	CUX1	chr14:24982609-24982634	GM12878	blood:	n/a	n/a
11	E2F4	chr14:24969682-24969916	MCF10A-Er-Src	breast:	n/a	n/a
12	EBF1	chr14:24977406-24977671	GM12878	blood:	n/a	n/a
13	EP300	chr14:24977926-24978034	GM12878	blood:	n/a	n/a
14	FOS	chr14:24985879-24985900	MCF10A-Er-Src	breast:	n/a	n/a
15	JUN	chr14:24985796-24986003	HepG2	liver:	n/a	n/a
16	JUND	chr14:24985769-24985950	HepG2	liver:	n/a	chr14:24985885-24985896
17	MAFF	chr14:24986817-24986915	K562	blood:	n/a	n/a
18	MAFF	chr14:24979580-24979843	HepG2	liver:	n/a	chr14:24979681-24979699
19	MAFF	chr14:24977343-24977434	HepG2	liver:	n/a	n/a
20	MAFK	chr14:24986734-24986979	HepG2	liver:	n/a	n/a
21	MAFK	chr14:24979519-24979862	HepG2	liver:	n/a	chr14:24979688-24979697 chr14:24979683-24979698 chr14:24979688-24979698
22	MAFK	chr14:24977278-24977457	HepG2	liver:	n/a	chr14:24977304-24977315 chr14:24977303-24977317 chr14:24977304-24977315
23	MAFK	chr14:24986809-24987009	HepG2	liver:	n/a	n/a
24	MAFK	chr14:24979539-24979815	IMR90	lung:	n/a	chr14:24979688-24979697 chr14:24979683-24979698 chr14:24979688-24979698
25	MAFK	chr14:24977381-24977393	HepG2	liver:	n/a	n/a
26	MAFK	chr14:24979536-24980160	HepG2	liver:	n/a	chr14:24979688-24979697 chr14:24980103-24980112 chr14:24979683-24979698 chr14:24979688-24979698
27	MAZ	chr14:24977929-24977982	Hela-S3	cervix:	n/a	n/a
28	NFYB	chr14:24977452-24977638	GM12878	blood:	n/a	n/a
29	POLR2A	chr14:24978357-24978702	H1-neurons	neurons:	n/a	n/a
30	RCOR1	chr14:24982359-24982469	K562	blood:	n/a	n/a
31	RCOR1	chr14:24982343-24982422	Hela-S3	cervix:	n/a	n/a
32	RCOR1	chr14:24977936-24977964	Hela-S3	cervix:	n/a	n/a
33	REST	chr14:24982055-24982651	HCT-116	colon:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
34	REST	chr14:24981179-24981450	HL-60	blood:	n/a	n/a
35	REST	chr14:24981983-24982617	H1-hESC	embryonic stem cell:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
36	REST	chr14:24982051-24982730	GM12878	blood:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
37	REST	chr14:24982325-24982515	U87	brain:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
38	REST	chr14:24982138-24982622	PANC-1	pancreas:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
39	REST	chr14:24982153-24982582	U87	brain:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
40	REST	chr14:24982241-24982515	U87	brain:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
41	REST	chr14:24982077-24982572	SK-N-SH	brain:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
42	REST	chr14:24982169-24982582	GM12878	blood:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
43	REST	chr14:24981875-24982730	HepG2	liver:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
44	REST	chr14:24982227-24982529	K562	blood:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
45	REST	chr14:24982099-24982585	HepG2	liver:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
46	REST	chr14:24982243-24982511	GM12878	blood:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
47	REST	chr14:24982156-24982730	PANC-1	pancreas:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
48	REST	chr14:24982307-24982442	PANC-1	pancreas:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
49	REST	chr14:24982312-24982505	PANC-1	pancreas:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414
50	REST	chr14:24981632-24982982	HL-60	blood:	n/a	chr14:24982395-24982415 chr14:24982406-24982415 chr14:24982395-24982415 chr14:24982395-24982415 chr14:24982395-24982409 chr14:24982396-24982414

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24977773-24977823	HRPEpiC	eye:	n/a
2	chr14:24978681-24978731	SK-N-MC	brain:	n/a
3	chr14:24977773-24977823	HAEpiC	amniotic membrane:	n/a
4	chr14:24978681-24978731	AG09319	gingival:	n/a
5	chr14:24974804-24974854	Caco-2	colon:	n/a
6	chr14:24974804-24974854	SKMC	muscle:	n/a
7	chr14:24977773-24977823	HCM	heart:	n/a
8	chr14:24974804-24974854	PFSK-1	brain:	n/a
9	chr14:24974804-24974854	T-47D	breast:	n/a
10	chr14:24978681-24978731	ECC-1	luminal epithelium:	n/a
11	chr14:24978681-24978731	SK-N-SH_RA	brain:	n/a
12	chr14:24974804-24974854	ovcar-3	ovarian:	n/a
13	chr14:24974804-24974854	GM12878	blood:	n/a
14	chr14:24977773-24977823	LNCaP	prostate:	n/a
15	chr14:24974804-24974854	HCF	heart:	n/a
16	chr14:24977773-24977823	GM12878	blood:	n/a
17	chr14:24977773-24977823	NH-A	brain:	n/a
18	chr14:24978681-24978731	SAEC	small airway:	n/a
19	chr14:24978681-24978731	HUVEC	blood vessel:	n/a
20	chr14:24977773-24977823	H1-hESC	embryonic stem cell:	embryo
21	chr14:24978681-24978731	SKMC	muscle:	n/a
22	chr14:24977773-24977823	HL-60	blood:	n/a
23	chr14:24977773-24977823	GM19239	blood:	n/a
24	chr14:24977773-24977823	HEEpiC	esophagus:	n/a
25	chr14:24977773-24977823	Jurkat	blood:	n/a
26	chr14:24974804-24974854	HCPEpiC	choroid plexus:	n/a
27	chr14:24974804-24974854	AG10803	skin:	n/a
28	chr14:24974804-24974854	GM06990	blood:	n/a
29	chr14:24978681-24978731	HCM	heart:	n/a
30	chr14:24978681-24978731	K562	blood:	n/a
31	chr14:24974804-24974854	IMR90	lung:	fetal
32	chr14:24978681-24978731	Hela-S3	cervix:	n/a
33	chr14:24977773-24977823	SK-N-MC	brain:	n/a
34	chr14:24978681-24978731	MCF10A-Er-Src	breast:	n/a
35	chr14:24977773-24977823	HCT-116	colon:	n/a
36	chr14:24974804-24974854	HPAEpiC	pulmonary alveolar:	n/a
37	chr14:24978681-24978731	RPTEC	kidney:	n/a
38	chr14:24977773-24977823	IMR90	lung:	fetal
39	chr14:24978681-24978731	HCF	heart:	n/a
40	chr14:24978681-24978731	HNPCEpiC	eye:	n/a
41	chr14:24978681-24978731	ovcar-3	ovarian:	n/a
42	chr14:24974804-24974854	NB4	blood:	n/a
43	chr14:24974804-24974854	BJ	skin:	n/a
44	chr14:24978681-24978731	AG10803	skin:	n/a
45	chr14:24977773-24977823	HCPEpiC	choroid plexus:	n/a
46	chr14:24978681-24978731	SK-N-SH	brain:	n/a
47	chr14:24978681-24978731	IMR90	lung:	fetal
48	chr14:24978681-24978731	GM06990	blood:	n/a
49	chr14:24978681-24978731	U87	brain:	n/a
50	chr14:24977773-24977823	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr14:24977730..24979918-chr14:24980024..24982313,2	MCF-7	breast:
2	chr14:24977730..24979918-chr14:24980024..24982313,2	MCF-7	breast:
3	chr14:24960817..24963613-chr14:24965277..24968190,2	K562	blood:
4	chr14:24987134..24988670-chr14:24989655..24991180,2	K562	blood:
5	chr14:24987134..24988670-chr14:24989655..24991180,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-80A15.1.1-1	chr14:24970766-24971403	ENSG00000251021
2	lnc-RP11-80A15.1.1-1	chr14:24970766-24971403	NR_110032

Variant related genes	Relation type
CMA1	TF binding region
ENSG00000258744	TF binding region
CMA1	CpG island
ENSG00000258744	CpG island
CYP2C8	miRNA target sites

Extended variants
information (count: 644 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568800606	chr14:24968614-24968615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369949985	chr14:24968624-24968625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187042454	chr14:24968625-24968626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1998230	chr14:24968628-24968629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536447689	chr14:24968669-24968670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4981534	chr14:24968718-24968719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1998229	chr14:24968719-24968720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550291246	chr14:24968760-24968761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563873908	chr14:24968789-24968790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529423606	chr14:24968813-24968814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191486835	chr14:24968825-24968826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566211195	chr14:24968843-24968844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535304066	chr14:24968880-24968881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550994522	chr14:24968889-24968890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11624048	chr14:24968890-24968891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537324565	chr14:24968938-24968939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556593237	chr14:24968972-24968973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76280004	chr14:24968973-24968974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536027971	chr14:24968996-24968997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2332353	chr14:24969043-24969044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs75612696	chr14:24969068-24969069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2332354	chr14:24969080-24969081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76412433	chr14:24969086-24969087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573667942	chr14:24969146-24969147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs138046784	chr14:24969161-24969162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187485361	chr14:24969175-24969176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573725846	chr14:24969182-24969183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192666654	chr14:24969212-24969213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35290589	chr14:24969253-24969254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540811278	chr14:24969269-24969270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559879870	chr14:24969281-24969282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143415953	chr14:24969300-24969301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147319625	chr14:24969346-24969347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117992362	chr14:24969350-24969351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs33920976	chr14:24969351-24969352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs63587261	chr14:24969356-24969357	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs71119085	chr14:24969370-24969371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386775708	chr14:24969444-24969445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10139149	chr14:24969445-24969446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536608700	chr14:24969452-24969453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10139151	chr14:24969453-24969454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs185667973	chr14:24969510-24969511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148156090	chr14:24969538-24969539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552927649	chr14:24969569-24969570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200475347	chr14:24969570-24969571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34210599	chr14:24969571-24969572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566652187	chr14:24969580-24969581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11621180	chr14:24969595-24969596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs558848292	chr14:24969599-24969600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190628792	chr14:24969621-24969622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24968600-24970800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:24968600-24973200	Weak transcription	Pancreas	Pancrea
3	chr14:24970800-24971200	ZNF genes & repeats	Fetal Stomach	stomach
4	chr14:24970800-24971200	ZNF genes & repeats	Gastric	stomach
5	chr14:24970800-24972400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:24971200-24977800	Weak transcription	Gastric	stomach
7	chr14:24971400-24972600	Weak transcription	Liver	Liver
8	chr14:24972400-24974000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:24976800-24978200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr14:24977000-24978000	Enhancers	GM12878-XiMat	blood
11	chr14:24977200-24977800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr14:24977400-24977800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:24977400-24978000	Enhancers	Primary hematopoietic stem cells	blood

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