Variant report

Variant	nsv977452
Chromosome Location	chr14:35016277-35017175
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	BATF	chr14:35015746-35016579	GM12878	blood:	n/a	n/a
2	BATF	chr14:35015666-35017003	GM12878	blood:	n/a	n/a
3	BCL11A	chr14:35015736-35017033	GM12878	blood:	n/a	chr14:35016380-35016389
4	BCL11A	chr14:35015741-35017025	GM12878	blood:	n/a	chr14:35016380-35016389
5	BHLHE40	chr14:35015741-35016651	HepG2	liver:	n/a	chr14:35016542-35016558 chr14:35016563-35016579
6	CBX3	chr14:35015762-35016560	K562	blood:	n/a	n/a
7	CBX3	chr14:35015658-35016767	K562	blood:	n/a	n/a
8	CEBPB	chr14:35015820-35016539	GM12878	blood:	n/a	n/a
9	CEBPB	chr14:35017116-35017444	K562	blood:	n/a	n/a
10	CEBPB	chr14:35015644-35016790	GM12878	blood:	n/a	n/a
11	CEBPB	chr14:35015734-35016767	K562	blood:	n/a	n/a
12	CEBPD	chr14:35015499-35016794	K562	blood:	n/a	n/a
13	CHD2	chr14:35017081-35017281	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr14:35017081-35017307	K562	blood:	n/a	n/a
15	CTCF	chr14:35016018-35016328	GM12878	blood:	n/a	n/a
16	CTCF	chr14:35016032-35016331	GM19238	blood:	n/a	n/a
17	CTCF	chr14:35016617-35016675	MCF-7	breast:	n/a	n/a
18	EBF1	chr14:35017064-35017256	GM12878	blood:	n/a	chr14:35017150-35017161
19	EBF1	chr14:35014982-35016939	GM12878	blood:	n/a	chr14:35016387-35016397 chr14:35015279-35015288 chr14:35016387-35016396 chr14:35015277-35015290 chr14:35016387-35016396 chr14:35016385-35016398
20	EBF1	chr14:35015743-35016840	GM12878	blood:	n/a	chr14:35016387-35016397 chr14:35016387-35016396 chr14:35016387-35016396 chr14:35016385-35016398
21	EGR1	chr14:35015509-35016842	GM12878	blood:	n/a	chr14:35015829-35015842 chr14:35015880-35015890
22	EP300	chr14:35015732-35016520	GM12878	blood:	n/a	n/a
23	EP300	chr14:35015621-35016899	GM12878	blood:	n/a	chr14:35015711-35015727
24	EP300	chr14:35016554-35016721	GM12878	blood:	n/a	n/a
25	FOSL2	chr14:35014785-35016927	HepG2	liver:	n/a	chr14:35014988-35014997
26	FOSL2	chr14:35014789-35016963	HepG2	liver:	n/a	chr14:35014988-35014997
27	FOXA1	chr14:35015510-35016867	HepG2	liver:	n/a	n/a
28	FOXA2	chr14:35015691-35016682	A549	lung:	n/a	n/a
29	FOXA2	chr14:35015465-35016754	A549	lung:	n/a	n/a
30	FOXM1	chr14:35015551-35016731	GM12878	blood:	n/a	n/a
31	FOXM1	chr14:35015105-35016890	GM12878	blood:	n/a	n/a
32	FOXP2	chr14:35015480-35016550	SK-N-MC	brain:	n/a	n/a
33	GABPA	chr14:35015841-35016349	Hela-S3	cervix:	n/a	n/a
34	GABPA	chr14:35016389-35016530	Hela-S3	cervix:	n/a	n/a
35	GABPA	chr14:35015724-35016670	Hela-S3	cervix:	n/a	n/a
36	GABPA	chr14:35015783-35016386	GM12878	blood:	n/a	n/a
37	GABPA	chr14:35015620-35016676	GM12878	blood:	n/a	chr14:35015713-35015722
38	GATA2	chr14:35015711-35016546	K562	blood:	n/a	n/a
39	GTF2F1	chr14:35017083-35017276	Hela-S3	cervix:	n/a	n/a
40	GTF2F1	chr14:35017141-35017296	K562	blood:	n/a	n/a
41	HA-E2F1	chr14:35017007-35017490	MCF-7	breast:	n/a	n/a
42	HEY1	chr14:35014788-35017330	HepG2	liver:	n/a	n/a
43	HEY1	chr14:35014729-35017033	HepG2	liver:	n/a	n/a
44	HEY1	chr14:35015392-35016835	K562	blood:	n/a	n/a
45	HEY1	chr14:35015331-35017412	K562	blood:	n/a	n/a
46	IKZF1	chr14:35016940-35017789	GM12878	blood:	n/a	n/a
47	IRF4	chr14:35015303-35017005	GM12878	blood:	n/a	n/a
48	IRF4	chr14:35015035-35016902	GM12878	blood:	n/a	n/a
49	JUND	chr14:35015614-35016747	A549	lung:	n/a	n/a
50	JUND	chr14:35014790-35017007	HepG2	liver:	n/a	chr14:35014988-35014997

No.	Distal block	Cell Line	Cell type
1	chr14:35005592..35010362-chr14:35016916..35020262,4	K562	blood:
2	chr14:35016160..35018954-chr14:35320492..35322117,2	MCF-7	breast:
3	chr14:35016499..35019288-chr14:35182699..35184219,2	MCF-7	breast:
4	chr14:35004626..35011116-chr14:35015634..35020787,10	MCF-7	breast:
5	chr14:34930543..34933153-chr14:35015586..35017251,2	MCF-7	breast:
6	chr14:34800052..34803596-chr14:35017115..35019908,4	MCF-7	breast:
7	chr14:35016252..35019435-chr14:35175626..35179365,3	MCF-7	breast:
8	chr1:231187611..231189113-chr14:35017121..35018734,3	MCF-7	breast:
9	chr14:35016520..35018363-chr6:90121191..90123487,2	MCF-7	breast:
10	chr1:149223853..149225389-chr14:35015592..35017210,2	MCF-7	breast:
11	chr14:35015757..35018418-chr4:39977549..39979834,2	MCF-7	breast:
12	chr14:35016452..35018611-chr14:35133910..35135545,2	K562	blood:
13	chr14:35016883..35018423-chr14:35574764..35577501,2	MCF-7	breast:
14	chr14:35015687..35019377-chr17:57914775..57917596,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259002	TF binding region
ENSG00000258612	TF binding region
ENSG00000165389	chromatin interactions
ENSG00000025039	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000129518	chromatin interactions
ENSG00000129521	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000165410	chromatin interactions
ENSG00000121892	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113957554	chr14:35016360-35016361	Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs145368089	chr14:35016596-35016597	Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs191526351	chr14:35016887-35016888	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs368180713	chr14:35016892-35016893	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs554108881	chr14:35016908-35016909	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs573799724	chr14:35016985-35016986	Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs71262238	chr14:35017019-35017020	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs8005219	chr14:35017063-35017064	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs199909101	chr14:35017071-35017072	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs201743285	chr14:35017072-35017073	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs59994869	chr14:35017073-35017074	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs112712712	chr14:35017074-35017075	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs71453628	chr14:35017088-35017089	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs557468811	chr14:35017132-35017133	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
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
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
speech impairment	20736978	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21045282	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Glioma	24330732	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35009000-35033000	Weak transcription	Gastric	stomach
2	chr14:35009600-35022200	Weak transcription	Fetal Intestine Large	intestine
3	chr14:35009600-35023800	Weak transcription	Right Atrium	heart
4	chr14:35009800-35016800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:35009800-35017200	Weak transcription	Pancreas	Pancrea
6	chr14:35013200-35017200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr14:35015400-35016800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr14:35016600-35016800	Weak transcription	Hela-S3	cervix
9	chr14:35016800-35017000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:35016800-35017000	Enhancers	Hela-S3	cervix
11	chr14:35016800-35017000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr14:35017000-35017200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr14:35017000-35017200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr14:35017000-35017200	Active TSS	A549	lung
15	chr14:35017000-35017400	Enhancers	Primary B cells from cord blood	blood
16	chr14:35017000-35017400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:35017000-35017400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr14:35017000-35017400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr14:35017000-35017400	Enhancers	Duodenum Mucosa	Duodenum
20	chr14:35017000-35017400	Enhancers	Fetal Brain Male	brain
21	chr14:35017000-35017400	Enhancers	Fetal Intestine Small	intestine
22	chr14:35017000-35017400	Active TSS	Thymus	Thymus
23	chr14:35017000-35017400	Enhancers	GM12878-XiMat	blood
24	chr14:35017000-35017400	Flanking Active TSS	Hela-S3	cervix
25	chr14:35017000-35017400	Flanking Active TSS	HepG2	liver
26	chr14:35017000-35017400	Enhancers	K562	blood
27	chr14:35017000-35017400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr14:35017000-35017600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr14:35017000-35017600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr14:35017000-35017800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:35017000-35017800	Enhancers	Primary B cells from peripheral blood	blood
32	chr14:35017000-35018000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr14:35017000-35018000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:35017000-35018000	Enhancers	Spleen	Spleen
35	chr14:35017000-35018200	Enhancers	Fetal Thymus	thymus
36	chr14:35017000-35018400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:35017000-35019000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr14:35017000-35020400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr14:35017000-35020400	Enhancers	Dnd41	blood

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