Variant report

Variant	nsv1045277
Chromosome Location	chr14:24484459-24500989
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:129)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:129 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:24489311-24489339	GM10266	blood:	n/a	n/a
2	CTCF	chr14:24489280-24489430	AG10803	skin:	n/a	n/a
3	CTCF	chr14:24489360-24489510	HepG2	liver:	n/a	n/a
4	CTCF	chr14:24489267-24489471	HepG2	liver:	n/a	n/a
5	CTCF	chr14:24489240-24489390	MCF-7	breast:	n/a	n/a
6	CTCF	chr14:24489380-24489530	GM12873	blood:	n/a	n/a
7	CTCF	chr14:24489380-24489530	GM12869	blood:	n/a	n/a
8	CTCF	chr14:24489281-24489453	MCF-7	breast:	n/a	n/a
9	CTCF	chr14:24489280-24489430	HMF	breast:	n/a	n/a
10	CTCF	chr14:24489280-24489430	BJ	skin:	n/a	n/a
11	CTCF	chr14:24489276-24489487	MCF-7	breast:	n/a	n/a
12	CTCF	chr14:24489380-24489530	GM12864	blood:	n/a	n/a
13	CTCF	chr14:24489380-24489530	HVMF	connective:	n/a	n/a
14	CTCF	chr14:24489340-24489490	AG04449	skin:	n/a	n/a
15	CTCF	chr14:24489260-24489410	AG09309	skin:	n/a	n/a
16	CTCF	chr14:24489280-24489430	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr14:24489404-24489445	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr14:24489360-24489510	GM12864	blood:	n/a	n/a
19	CTCF	chr14:24489260-24489510	NHEK	skin:	n/a	n/a
20	CTCF	chr14:24489400-24489550	BE2_C	brain:	n/a	n/a
21	CTCF	chr14:24489341-24489402	GM19240	blood:	n/a	n/a
22	CTCF	chr14:24489360-24489510	HRE	kidney:	n/a	n/a
23	CTCF	chr14:24489299-24489427	LNCaP	prostate:	n/a	n/a
24	CTCF	chr14:24489280-24489430	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr14:24489289-24489467	A549	lung:	n/a	n/a
26	CTCF	chr14:24489320-24489470	SAEC	small airway:	n/a	n/a
27	CTCF	chr14:24489338-24489458	GM20000	blood:	n/a	n/a
28	CTCF	chr14:24489400-24489550	MCF-7	breast:	n/a	n/a
29	CTCF	chr14:24489380-24489530	HAc	cerebellar:	n/a	n/a
30	CTCF	chr14:24489360-24489510	HMEC	breast:	n/a	n/a
31	CTCF	chr14:24489354-24489409	Lung_OC	lung:	n/a	n/a
32	CTCF	chr14:24489380-24489530	GM12867	blood:	n/a	n/a
33	CTCF	chr14:24489380-24489530	MCF-7	breast:	n/a	n/a
34	CTCF	chr14:24489336-24489443	HepG2	liver:	n/a	n/a
35	CTCF	chr14:24489260-24489410	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr14:24489820-24489970	GM12870	blood:	n/a	n/a
37	CTCF	chr14:24489284-24489446	MCF-7	breast:	n/a	n/a
38	CTCF	chr14:24489315-24489451	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr14:24489302-24489433	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr14:24489260-24489410	HCFaa	heart:	n/a	n/a
41	CTCF	chr14:24489280-24489430	HEK293	kidney:	n/a	n/a
42	CTCF	chr14:24489180-24489330	BE2_C	brain:	n/a	n/a
43	CTCF	chr14:24489363-24489490	LNCaP	prostate:	n/a	n/a
44	CTCF	chr14:24489340-24489490	GM12870	blood:	n/a	n/a
45	CTCF	chr14:24489280-24489430	GM12873	blood:	n/a	n/a
46	CTCF	chr14:24489360-24489510	AG10803	skin:	n/a	n/a
47	CTCF	chr14:24489280-24489430	GM12865	blood:	n/a	n/a
48	CTCF	chr14:24489280-24489430	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr14:24489360-24489510	GM12869	blood:	n/a	n/a
50	CTCF	chr14:24489360-24489510	GM12874	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24482659..24484974-chr14:24503307..24504865,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225766	TF binding region

Extended variants
information (count: 570 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10142648	chr14:24484459-24484460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183329937	chr14:24484474-24484475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142910748	chr14:24484487-24484488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117036375	chr14:24484499-24484500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372890074	chr14:24484522-24484523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200347521	chr14:24484524-24484525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577004439	chr14:24484531-24484532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539334066	chr14:24484536-24484537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556468312	chr14:24484537-24484538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140973162	chr14:24484543-24484544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560242469	chr14:24484544-24484545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561317646	chr14:24484546-24484547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575007687	chr14:24484571-24484572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540795614	chr14:24484575-24484576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149801597	chr14:24484578-24484579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10142130	chr14:24484582-24484583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549566636	chr14:24484587-24484588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567815222	chr14:24484621-24484622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369543218	chr14:24484623-24484624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190544309	chr14:24484653-24484654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140506988	chr14:24484656-24484657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531166847	chr14:24484671-24484672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145660592	chr14:24484688-24484689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112972584	chr14:24484727-24484728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533629247	chr14:24484734-24484735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377567022	chr14:24484737-24484738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201815938	chr14:24484738-24484739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529423974	chr14:24484747-24484748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187668033	chr14:24484756-24484757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78234825	chr14:24484759-24484760	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs538213609	chr14:24484781-24484782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192061248	chr14:24484795-24484796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574920421	chr14:24484800-24484801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540706392	chr14:24484816-24484817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185027334	chr14:24484836-24484837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373151422	chr14:24484843-24484844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143112808	chr14:24484862-24484863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562991851	chr14:24484863-24484864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35753952	chr14:24484890-24484891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148248806	chr14:24484903-24484904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189442602	chr14:24484909-24484910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200852406	chr14:24484934-24484935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11849560	chr14:24484935-24484936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547083681	chr14:24484958-24484959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570539536	chr14:24484961-24484962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs72692127	chr14:24485008-24485009	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs552004776	chr14:24485009-24485010	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs375276947	chr14:24485010-24485011	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs150322683	chr14:24485016-24485017	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs555165516	chr14:24485068-24485069	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21390271	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24480400-24485000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:24480600-24486600	Weak transcription	Thymus	Thymus
3	chr14:24481200-24486400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:24483600-24485000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:24483600-24485400	Weak transcription	Fetal Thymus	thymus
6	chr14:24483600-24485800	Weak transcription	Ovary	ovary
7	chr14:24483600-24486200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr14:24483600-24486200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:24483600-24486800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr14:24483800-24484800	Weak transcription	HepG2	liver
11	chr14:24483800-24485000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr14:24483800-24488200	Weak transcription	Dnd41	blood
13	chr14:24484800-24485400	Enhancers	HepG2	liver
14	chr14:24485000-24485200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr14:24485000-24485200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr14:24485000-24485200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:24486800-24487200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr14:24492800-24494600	Enhancers	HepG2	liver
19	chr14:24494000-24494600	Enhancers	Liver	Liver
20	chr14:24494400-24495600	Enhancers	Dnd41	blood
21	chr14:24495600-24500000	Weak transcription	Dnd41	blood
22	chr14:24500000-24500400	Enhancers	Dnd41	blood

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