Variant report

Variant	nsv528862
Chromosome Location	chr14:104872237-104884970
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	chr14:104873436-104873767	GM12878	blood:	n/a	chr14:104873580-104873591 chr14:104873618-104873629
2	BATF	chr14:104873533-104873737	GM12878	blood:	n/a	chr14:104873580-104873591 chr14:104873618-104873629
3	BATF	chr14:104882766-104882975	GM12878	blood:	n/a	chr14:104882870-104882881
4	CTCF	chr14:104874198-104874278	GM10248	blood:	n/a	n/a
5	CUX1	chr14:104884304-104884504	GM12878	blood:	n/a	n/a
6	IKZF1	chr14:104882695-104882880	GM12878	blood:	n/a	n/a
7	PAX5	chr14:104873887-104874101	GM12878	blood:	n/a	n/a
8	RFX5	chr14:104872508-104872618	K562	blood:	n/a	n/a
9	RUNX3	chr14:104882669-104883081	GM12878	blood:	n/a	n/a
10	RUNX3	chr14:104882714-104883020	GM12878	blood:	n/a	n/a
11	SETDB1	chr14:104875394-104875850	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
RNU6-684P	TF binding region

Extended variants
information (count: 126 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:126 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7151906	chr14:104872237-104872238	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147411549	chr14:104872261-104872262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545718315	chr14:104872366-104872367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139645202	chr14:104872371-104872372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141702804	chr14:104872408-104872409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs546122538	chr14:104872472-104872473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs367708213	chr14:104872473-104872474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191119895	chr14:104872568-104872569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181775430	chr14:104872608-104872609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550253550	chr14:104872659-104872660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150534824	chr14:104872682-104872683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567994603	chr14:104872710-104872711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533227177	chr14:104872724-104872725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535514250	chr14:104872729-104872730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139468819	chr14:104872766-104872767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75896819	chr14:104872818-104872819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs149658102	chr14:104872852-104872853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs12889341	chr14:104872936-104872937	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs577960898	chr14:104873094-104873095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543583751	chr14:104873096-104873097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367702851	chr14:104873146-104873147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557011087	chr14:104873192-104873193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573897454	chr14:104873214-104873215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542527435	chr14:104873270-104873271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186126673	chr14:104873274-104873275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190750030	chr14:104873296-104873297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544743098	chr14:104873326-104873327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs564634847	chr14:104873335-104873336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183459857	chr14:104873339-104873340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4906454	chr14:104873360-104873361	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs60842859	chr14:104873364-104873365	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187901662	chr14:104873384-104873385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4906455	chr14:104873411-104873412	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs145420797	chr14:104873468-104873469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546686952	chr14:104873484-104873485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566121836	chr14:104873485-104873486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140197569	chr14:104873526-104873527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143885112	chr14:104873531-104873532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571755390	chr14:104873536-104873537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537117910	chr14:104873542-104873543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112573658	chr14:104873577-104873578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190644509	chr14:104873585-104873586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182948608	chr14:104873624-104873625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552836732	chr14:104873632-104873633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572549903	chr14:104873676-104873677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146859884	chr14:104873715-104873716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140663146	chr14:104873716-104873717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530644949	chr14:104873725-104873726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs143712285	chr14:104873776-104873777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75993042	chr14:104873782-104873783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104872000-104872400	Enhancers	Adipose Nuclei	Adipose
2	chr14:104872000-104872400	Enhancers	Fetal Brain Male	brain
3	chr14:104872000-104873400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:104872200-104872600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:104872200-104875200	Weak transcription	Left Ventricle	heart
6	chr14:104872400-104873400	Weak transcription	Fetal Brain Male	brain
7	chr14:104873400-104873600	Enhancers	Fetal Brain Male	brain
8	chr14:104874600-104874800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr14:104875200-104875400	ZNF genes & repeats	Left Ventricle	heart
10	chr14:104875600-104875800	Bivalent/Poised TSS	Primary T cells from cord blood	blood

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