Variant report

Variant	nsv901848
Chromosome Location	chr14:45932515-46024675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:330)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:46000477-46000804	HepG2	liver:	n/a	chr14:46000620-46000631
2	CEBPB	chr14:45990474-45990674	IMR90	lung:	n/a	chr14:45990587-45990604
3	CHD2	chr14:46020613-46020614	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr14:45996268-45996394	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr14:45996529-45996754	MCF-7	breast:	n/a	n/a
6	CTCF	chr14:45996640-45996790	HCT-116	colon:	n/a	n/a
7	CTCF	chr14:45996600-45996750	HMEC	breast:	n/a	n/a
8	CTCF	chr14:45996531-45996826	IMR90	lung:	n/a	n/a
9	CTCF	chr14:46020253-46020430	MCF-7	breast:	n/a	n/a
10	CTCF	chr14:45996604-45996752	K562	blood:	n/a	n/a
11	CTCF	chr14:45996556-45996817	K562	blood:	n/a	n/a
12	CTCF	chr14:45996599-45996748	Lung_OC	lung:	n/a	n/a
13	CTCF	chr14:45996571-45996725	GM12892	blood:	n/a	n/a
14	CTCF	chr14:45996580-45996730	HFF	foreskin:	n/a	n/a
15	CTCF	chr14:45996579-45996787	GM10266	blood:	n/a	n/a
16	CTCF	chr14:45996580-45996730	K562	blood:	n/a	n/a
17	CTCF	chr14:45996580-45996730	RPTEC	kidney:	n/a	n/a
18	CTCF	chr14:45996442-45996919	HepG2	liver:	n/a	n/a
19	CTCF	chr14:45996600-45996750	K562	blood:	n/a	n/a
20	CTCF	chr14:45996600-45996750	GM12873	blood:	n/a	n/a
21	CTCF	chr14:45996660-45996810	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr14:45996580-45996730	HL-60	blood:	n/a	n/a
23	CTCF	chr14:45996600-45996750	GM12874	blood:	n/a	n/a
24	CTCF	chr14:45996553-45996832	LNCaP	prostate:	n/a	n/a
25	CTCF	chr14:45996580-45996730	HRPEpiC	eye:	n/a	n/a
26	CTCF	chr14:45996600-45996750	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr14:45996529-45996766	NHEK	skin:	n/a	n/a
28	CTCF	chr14:45996580-45996730	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr14:45996600-45996750	BJ	skin:	n/a	n/a
30	CTCF	chr14:45996588-45996790	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr14:45996580-45996730	HepG2	liver:	n/a	n/a
32	CTCF	chr14:45996600-45996890	HVMF	connective:	n/a	n/a
33	CTCF	chr14:45996580-45996730	SAEC	small airway:	n/a	n/a
34	CTCF	chr14:45996570-45996715	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr14:45985720-45985870	HCFaa	heart:	n/a	n/a
36	CTCF	chr14:45996580-45996730	HFF-Myc	foreskin:	n/a	n/a
37	CTCF	chr14:45996600-45996750	A549	lung:	n/a	n/a
38	CTCF	chr14:45996600-45996750	HRE	kidney:	n/a	n/a
39	CTCF	chr14:45996489-45996878	GM12878	blood:	n/a	n/a
40	CTCF	chr14:45996580-45996730	GM12875	blood:	n/a	n/a
41	CTCF	chr14:45996555-45996797	GM13977	blood:	n/a	n/a
42	CTCF	chr14:45996620-45996770	HRE	kidney:	n/a	n/a
43	CTCF	chr14:45996314-45996998	SK-N-SH	brain:	n/a	n/a
44	CTCF	chr14:45996409-45996924	T-47D	breast:	n/a	n/a
45	CTCF	chr14:45996580-45996730	GM12871	blood:	n/a	n/a
46	CTCF	chr14:45996620-45996770	MCF-7	breast:	n/a	n/a
47	CTCF	chr14:45996600-45996750	Caco-2	colon:	n/a	n/a
48	CTCF	chr14:45996519-45996743	A549	lung:	n/a	n/a
49	CTCF	chr14:45996523-45996750	MCF-7	breast:	n/a	n/a
50	CTCF	chr14:45996580-45996730	GM12801	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45973970..45976424-chr14:45980516..45983044,2	MCF-7	breast:
2	chr14:45833660..45834242-chr14:45996510..45997327,3	MCF-7	breast:
3	chr14:45932172..45934812-chr14:45938386..45940699,2	K562	blood:
4	chr14:45932172..45934812-chr14:45938386..45940699,2	K562	blood:
5	chr14:45980303..45983033-chr14:45994308..45996794,2	MCF-7	breast:
6	chr14:45973970..45976424-chr14:45980516..45983044,2	MCF-7	breast:
7	chr14:45895702..45896616-chr14:45996086..45997189,11	MCF-7	breast:
8	chr14:45895709..45896868-chr14:45996158..45997180,10	MCF-7	breast:
9	chr14:45980303..45983033-chr14:45994308..45996794,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258746	TF binding region

Extended variants
information (count: 1229 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1229 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7149874	chr14:45932515-45932516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530237709	chr14:45932522-45932523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149493981	chr14:45932547-45932548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188716266	chr14:45932571-45932572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143083270	chr14:45932604-45932605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6572298	chr14:45932642-45932643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569910113	chr14:45932673-45932674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530745163	chr14:45932676-45932677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71933396	chr14:45932680-45932681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs58537795	chr14:45932681-45932682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375245408	chr14:45932691-45932692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567460502	chr14:45932753-45932754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534564955	chr14:45932771-45932772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546277054	chr14:45932807-45932808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111501846	chr14:45932875-45932876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538332692	chr14:45932931-45932932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543657314	chr14:45932954-45932955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563966903	chr14:45932955-45932956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148181660	chr14:45932997-45932998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576201738	chr14:45933024-45933025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372239342	chr14:45933059-45933060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537263290	chr14:45933143-45933144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375917617	chr14:45933244-45933245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555594211	chr14:45933268-45933269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112615634	chr14:45933290-45933291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377258626	chr14:45933293-45933294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192263291	chr14:45933351-45933352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147528049	chr14:45933353-45933354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs184320517	chr14:45933372-45933373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549229583	chr14:45933463-45933464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367759132	chr14:45933520-45933521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558969582	chr14:45933574-45933575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577990908	chr14:45933575-45933576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545488728	chr14:45933607-45933608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563785364	chr14:45933645-45933646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs67847674	chr14:45933707-45933708	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs111471416	chr14:45933777-45933778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549205401	chr14:45933846-45933847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561186653	chr14:45933858-45933859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188569261	chr14:45933866-45933867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181062711	chr14:45933873-45933874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553835466	chr14:45933904-45933905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184418851	chr14:45933911-45933912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550227464	chr14:45933928-45933929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568620045	chr14:45933933-45933934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535989141	chr14:45933958-45933959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555672546	chr14:45934040-45934041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189350770	chr14:45934041-45934042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574292076	chr14:45934048-45934049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553649331	chr14:45934054-45934055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45930600-45932600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr14:45932600-45936000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr14:45933800-45934400	Enhancers	Colon Smooth Muscle	Colon
4	chr14:45934200-45935400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:45935600-45936400	Active TSS	Psoas Muscle	Psoas
6	chr14:45935800-45936800	Enhancers	Fetal Heart	heart
7	chr14:45936000-45936600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:45936000-45936600	Enhancers	Pancreas	Pancrea
9	chr14:45936000-45936600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr14:45936400-45936600	Enhancers	Psoas Muscle	Psoas
11	chr14:45936400-45937400	Enhancers	Rectal Smooth Muscle	rectum
12	chr14:45936600-45939600	Weak transcription	Psoas Muscle	Psoas
13	chr14:45951600-45952200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr14:45960800-45962000	Enhancers	Liver	Liver
15	chr14:45961000-45962800	Enhancers	Pancreas	Pancrea
16	chr14:45961800-45962600	Enhancers	Left Ventricle	heart
17	chr14:45962000-45962600	Enhancers	Right Atrium	heart
18	chr14:45962200-45962600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:45962200-45962600	Enhancers	Gastric	stomach
20	chr14:45962600-45965000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:45965000-45965200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr14:45965000-45966200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr14:45966200-45973000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:45972800-45973200	Enhancers	Liver	Liver
25	chr14:45973000-45973200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:45983800-45984200	Enhancers	Colon Smooth Muscle	Colon
27	chr14:45995800-45996600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr14:45995800-45996800	Enhancers	Stomach Mucosa	stomach
29	chr14:45996000-45996200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:45996000-45996200	Enhancers	Adipose Nuclei	Adipose
31	chr14:45996000-45996200	Enhancers	Hela-S3	cervix
32	chr14:45996000-45996400	Enhancers	Gastric	stomach
33	chr14:45996000-45996400	Enhancers	Psoas Muscle	Psoas
34	chr14:45996000-45996600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr14:45996000-45996600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:45996000-45996600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:45996000-45996600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:45996000-45996600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:45996000-45996600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:45996000-45996600	Enhancers	Pancreas	Pancrea
41	chr14:45996000-45996600	Enhancers	HMEC	breast
42	chr14:45996200-45996400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
43	chr14:45996200-45996400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr14:45996200-45996400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:45996200-45996400	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr14:45996200-45996600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr14:45996200-45996600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr14:45996200-45996600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr14:45996200-45996600	Enhancers	Left Ventricle	heart
50	chr14:45996200-45996600	Active TSS	Skeletal Muscle Male	skeletal muscle

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