Variant report

Variant	nsv564456
Chromosome Location	chr14:40835874-40880840
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	chr14:40868203-40868561	HepG2	liver:	n/a	chr14:40868377-40868388
2	CEBPB	chr14:40868209-40868540	A549	lung:	n/a	chr14:40868377-40868388
3	CEBPB	chr14:40844299-40844655	A549	lung:	n/a	n/a
4	CEBPB	chr14:40840907-40841139	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr14:40868231-40868559	Hela-S3	cervix:	n/a	chr14:40868377-40868388
6	CEBPB	chr14:40868206-40868566	IMR90	lung:	n/a	chr14:40868377-40868388
7	CEBPB	chr14:40844308-40844652	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:40844357-40844564	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr14:40855306-40855459	HepG2	liver:	n/a	n/a
10	CEBPB	chr14:40868225-40868461	K562	blood:	n/a	chr14:40868377-40868388
11	CEBPB	chr14:40844332-40844672	IMR90	lung:	n/a	n/a
12	CEBPB	chr14:40864272-40864291	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr14:40868250-40868459	H1-hESC	embryonic stem cell:	n/a	chr14:40868377-40868388
14	CEBPB	chr14:40840922-40841392	HepG2	liver:	n/a	chr14:40841265-40841278 chr14:40841265-40841276 chr14:40841267-40841276
15	CTCF	chr14:40875638-40875711	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr14:40841280-40841430	HPF	lung:	n/a	n/a
17	CTCF	chr14:40876200-40876350	GM12872	blood:	n/a	n/a
18	CTCF	chr14:40836292-40836352	GM13976	blood:	n/a	n/a
19	CUX1	chr14:40862279-40862287	GM12878	blood:	n/a	n/a
20	E2F4	chr14:40862296-40862519	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr14:40837572-40837846	T-47D	breast:	n/a	chr14:40837821-40837831 chr14:40837726-40837736
22	EP300	chr14:40837426-40838012	T-47D	breast:	n/a	chr14:40837896-40837910 chr14:40837821-40837831 chr14:40837471-40837485 chr14:40837991-40838000 chr14:40837465-40837479 chr14:40837726-40837736
23	EP300	chr14:40837523-40838000	MCF-7	breast:	n/a	chr14:40837896-40837910 chr14:40837821-40837831 chr14:40837991-40838000 chr14:40837726-40837736
24	FOS	chr14:40862338-40862756	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr14:40840331-40840587	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr14:40863823-40864310	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr14:40863877-40864191	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr14:40840281-40840506	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr14:40836951-40837247	MCF10A-Er-Src	breast:	n/a	chr14:40837151-40837158 chr14:40837151-40837159 chr14:40837152-40837163
30	FOS	chr14:40840310-40840509	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr14:40863885-40864416	MCF10A-Er-Src	breast:	n/a	chr14:40864339-40864348
32	FOS	chr14:40862353-40862803	MCF10A-Er-Src	breast:	n/a	chr14:40862783-40862791
33	FOS	chr14:40862298-40862813	MCF10A-Er-Src	breast:	n/a	chr14:40862783-40862791
34	FOS	chr14:40863823-40864220	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr14:40862334-40862746	MCF10A-Er-Src	breast:	n/a	n/a
36	FOSL2	chr14:40837479-40837975	MCF-7	breast:	n/a	chr14:40837744-40837753
37	FOSL2	chr14:40862320-40863037	MCF-7	breast:	n/a	chr14:40862783-40862791
38	FOSL2	chr14:40836876-40837352	MCF-7	breast:	n/a	chr14:40837151-40837158 chr14:40837151-40837159 chr14:40837152-40837163
39	FOSL2	chr14:40862371-40862875	MCF-7	breast:	n/a	chr14:40862783-40862791
40	FOXA1	chr14:40837436-40838037	T-47D	breast:	n/a	chr14:40837725-40837740 chr14:40837818-40837830
41	FOXA1	chr14:40837526-40837914	T-47D	breast:	n/a	chr14:40837725-40837740 chr14:40837818-40837830
42	FOXA1	chr14:40837487-40837940	HepG2	liver:	n/a	chr14:40837725-40837740 chr14:40837818-40837830
43	FOXM1	chr14:40837059-40838074	MCF-7	breast:	n/a	n/a
44	GATA3	chr14:40837192-40838103	MCF-7	breast:	n/a	chr14:40837426-40837434 chr14:40837992-40838002
45	GATA3	chr14:40837288-40837901	MCF-7	breast:	n/a	chr14:40837426-40837434
46	GATA3	chr14:40862384-40863098	MCF-7	breast:	n/a	chr14:40862781-40862790
47	GATA3	chr14:40862614-40862939	MCF-7	breast:	n/a	chr14:40862781-40862790
48	GATA3	chr14:40836848-40838128	MCF-7	breast:	n/a	chr14:40837426-40837434 chr14:40837992-40838002
49	GATA3	chr14:40866182-40866461	T-47D	breast:	n/a	n/a
50	GATA3	chr14:40837450-40837879	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:40860557..40863122-chr14:40865189..40868111,2	MCF-7	breast:
2	chr14:40862573..40865201-chr14:40865784..40867370,2	K562	blood:
3	chr14:40863521..40865803-chr14:40870395..40872089,2	MCF-7	breast:
4	chr14:40862573..40865201-chr14:40865784..40867370,2	K562	blood:
5	chr14:40839183..40841621-chr14:40841712..40843758,2	MCF-7	breast:
6	chr14:40839183..40841621-chr14:40841712..40843758,2	MCF-7	breast:
7	chr14:40857820..40860668-chr14:40862186..40864573,2	MCF-7	breast:
8	chr14:40879663..40882573-chr14:40893834..40895743,2	MCF-7	breast:
9	chr14:40863521..40865803-chr14:40870395..40872089,2	MCF-7	breast:
10	chr14:40857820..40860668-chr14:40862186..40864573,2	MCF-7	breast:
11	chr14:40852272..40855989-chr14:40856721..40860430,4	MCF-7	breast:
12	chr14:40852272..40855989-chr14:40856721..40860430,4	MCF-7	breast:
13	chr14:40860557..40863122-chr14:40865189..40868111,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTAGE5-3	chr14:40856762-40857244	ENSG00000258480
2	lnc-CTAGE5-2	chr14:40855738-40855998	ENSG00000258418
3	lnc-FBXO33-1	chr14:40880506-40880728	XLOC_011003
4	lnc-CTAGE5-2	chr14:40855456-40855647	ENSG00000258418
5	lnc-CTAGE5-3	chr14:40858281-40858344	ENSG00000258480

Variant related genes	Relation type
ENSG00000258418	TF binding region
ENSG00000258480	TF binding region
ENSG00000258418	chromatin interactions
ENSG00000258480	chromatin interactions

Extended variants
information (count: 521 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:521 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558134795	chr14:40837628-40837629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116609944	chr14:40837654-40837655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540273342	chr14:40837667-40837668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562083618	chr14:40837672-40837673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530996829	chr14:40837693-40837694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561549749	chr14:40837713-40837714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564114808	chr14:40837714-40837715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61077075	chr14:40837716-40837717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528844785	chr14:40837720-40837721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546525050	chr14:40837810-40837811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs542192333	chr14:40837833-40837834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529124591	chr14:40837842-40837843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191419219	chr14:40837846-40837847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183040738	chr14:40837871-40837872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs17110530	chr14:40837926-40837927	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs537912570	chr14:40837927-40837928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557802092	chr14:40837948-40837949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531055896	chr14:40837962-40837963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571294906	chr14:40837963-40837964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187375502	chr14:40837993-40837994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540781369	chr14:40838014-40838015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552363675	chr14:40838039-40838040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78027515	chr14:40838095-40838096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192561486	chr14:40838137-40838138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184787931	chr14:40838204-40838205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555884655	chr14:40838232-40838233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575673995	chr14:40838233-40838234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544268572	chr14:40838235-40838236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564225661	chr14:40838308-40838309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552293598	chr14:40838313-40838314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187804050	chr14:40838334-40838335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114051601	chr14:40838371-40838372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143477029	chr14:40838376-40838377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556549012	chr14:40840408-40840409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115371156	chr14:40840449-40840450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543801529	chr14:40840504-40840505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563678946	chr14:40840518-40840519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139972190	chr14:40840547-40840548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12881520	chr14:40840559-40840560	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12882831	chr14:40840574-40840575	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs143528651	chr14:40840594-40840595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529717636	chr14:40840621-40840622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs368342559	chr14:40840656-40840657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543410655	chr14:40840679-40840680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562908753	chr14:40840741-40840742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201284105	chr14:40840769-40840770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80235144	chr14:40840773-40840774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551683478	chr14:40840774-40840775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571604601	chr14:40840775-40840776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534706124	chr14:40840776-40840777	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Invasive pancreatic ductal carcinoma	16982739	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
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:40837600-40838000	Enhancers	Fetal Kidney	kidney
2	chr14:40837600-40838200	Enhancers	Liver	Liver
3	chr14:40837800-40838400	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr14:40840400-40841600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:40840800-40841200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:40861800-40862200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr14:40862200-40863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr14:40862800-40863600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:40863400-40864000	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr14:40875400-40875600	Enhancers	Aorta	Aorta
11	chr14:40875600-40875800	ZNF genes & repeats	Aorta	Aorta
12	chr14:40877200-40877800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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