Variant report

Variant	nsv564900
Chromosome Location	chr14:63776229-63786357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:429)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr14:63782321-63782360	GM12878	blood:	n/a	n/a
2	CEBPB	chr14:63782893-63783093	A549	lung:	n/a	n/a
3	CTCF	chr14:63784480-63784630	BE2_C	brain:	n/a	n/a
4	CTCF	chr14:63777660-63777810	GM12875	blood:	n/a	n/a
5	CTCF	chr14:63783572-63783653	Fibrobl	skin:	n/a	n/a
6	CTCF	chr14:63776100-63776250	A549	lung:	n/a	n/a
7	CTCF	chr14:63784363-63784436	K562	blood:	n/a	n/a
8	MAFF	chr14:63779926-63780199	HepG2	liver:	n/a	chr14:63780054-63780072
9	MAFK	chr14:63779921-63780224	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:63781947-63782124	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr14:63779653-63779707	MCF-7	breast:	n/a	n/a
12	STAT3	chr14:63778553-63778699	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr14:63780477-63780664	MCF10A-Er-Src	breast:	n/a	n/a
14	USF2	chr14:63783452-63783522	H1-hESC	embryonic stem cell:	n/a	n/a

(count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:63781994-63782044	NB4	blood:	n/a
2	chr14:63779694-63779744	HMEC	breast:	n/a
3	chr14:63781994-63782044	NB4	blood:	n/a
4	chr14:63779694-63779744	HMEC	breast:	n/a
5	chr14:63785523-63785573	AG04450	lung:	fetal
6	chr14:63784394-63784444	HAEpiC	amniotic membrane:	n/a
7	chr14:63781994-63782044	PANC-1	pancreas:	n/a
8	chr14:63784574-63784624	NH-A	brain:	n/a
9	chr14:63784394-63784444	ovcar-3	ovarian:	n/a
10	chr14:63785287-63785337	SK-N-MC	brain:	n/a
11	chr14:63784574-63784624	AG04449	skin:	fetal
12	chr14:63779694-63779744	ECC-1	luminal epithelium:	n/a
13	chr14:63781994-63782044	NH-A	brain:	n/a
14	chr14:63784394-63784444	SK-N-SH_RA	brain:	n/a
15	chr14:63785523-63785573	AoSMC	blood vessel:	n/a
16	chr14:63785334-63785384	K562	blood:	n/a
17	chr14:63785523-63785573	HNPCEpiC	eye:	n/a
18	chr14:63785523-63785573	LNCaP	prostate:	n/a
19	chr14:63779694-63779744	HUVEC	blood vessel:	n/a
20	chr14:63781994-63782044	SK-N-SH	brain:	n/a
21	chr14:63781994-63782044	HAEpiC	amniotic membrane:	n/a
22	chr14:63785287-63785337	CMK	blood:	n/a
23	chr14:63784394-63784444	HEK293	kidney:	embryo
24	chr14:63785287-63785337	HepG2	liver:	n/a
25	chr14:63781994-63782044	NHBE	bronchial:	n/a
26	chr14:63781994-63782044	AoSMC	blood vessel:	n/a
27	chr14:63779694-63779744	Hela-S3	cervix:	n/a
28	chr14:63785523-63785573	A549	lung:	n/a
29	chr14:63781994-63782044	RPTEC	kidney:	n/a
30	chr14:63784574-63784624	PrEC	prostate:	n/a
31	chr14:63779694-63779744	HCPEpiC	choroid plexus:	n/a
32	chr14:63785334-63785384	HIPEpiC	eye:	n/a
33	chr14:63785523-63785573	H1-hESC	embryonic stem cell:	embryo
34	chr14:63785287-63785337	RPTEC	kidney:	n/a
35	chr14:63779694-63779744	AG04450	lung:	fetal
36	chr14:63785287-63785337	HRPEpiC	eye:	n/a
37	chr14:63785523-63785573	NB4	blood:	n/a
38	chr14:63779694-63779744	A549	lung:	n/a
39	chr14:63785523-63785573	HCF	heart:	n/a
40	chr14:63784394-63784444	RPTEC	kidney:	n/a
41	chr14:63785523-63785573	HEEpiC	esophagus:	n/a
42	chr14:63785334-63785384	HCPEpiC	choroid plexus:	n/a
43	chr14:63785523-63785573	AG04449	skin:	fetal
44	chr14:63784394-63784444	HL-60	blood:	n/a
45	chr14:63785287-63785337	AG09309	skin:	n/a
46	chr14:63784394-63784444	GM12891	blood:	n/a
47	chr14:63785334-63785384	ECC-1	luminal epithelium:	n/a
48	chr14:63785287-63785337	LNCaP	prostate:	n/a
49	chr14:63785523-63785573	Jurkat	blood:	n/a
50	chr14:63784394-63784444	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:62629724..62631701-chr14:63774617..63777066,2	MCF-7	breast:

No data

Variant related genes	Relation type
GPHB5	TF binding region
GPHB5	CpG island

Extended variants
information (count: 203 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:203 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1255566	chr14:63776229-63776230	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs540187586	chr14:63776237-63776238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370115306	chr14:63776280-63776281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1077238	chr14:63776289-63776290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528332785	chr14:63776298-63776299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548383866	chr14:63776302-63776303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72712573	chr14:63776313-63776314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs180824470	chr14:63776326-63776327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs115588521	chr14:63776345-63776346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs68095354	chr14:63776374-63776375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1077237	chr14:63776388-63776389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567194146	chr14:63776403-63776404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2356160	chr14:63776466-63776467	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs555962159	chr14:63776497-63776498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575739571	chr14:63776518-63776519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544738144	chr14:63776635-63776636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557972217	chr14:63776663-63776664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577673710	chr14:63776668-63776669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139017688	chr14:63776699-63776700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs560085158	chr14:63776704-63776705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528395869	chr14:63776723-63776724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555611950	chr14:63776738-63776739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547709769	chr14:63776824-63776825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541740167	chr14:63776839-63776840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561967298	chr14:63776863-63776864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530623406	chr14:63776878-63776879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550712764	chr14:63776900-63776901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75273639	chr14:63776905-63776906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141499498	chr14:63776922-63776923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10140920	chr14:63776934-63776935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs566460836	chr14:63776955-63776956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184667733	chr14:63776977-63776978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537470809	chr14:63776980-63776981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1255569	chr14:63777010-63777011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs190195456	chr14:63777011-63777012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182424159	chr14:63777016-63777017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570846090	chr14:63777040-63777041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150875232	chr14:63777070-63777071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185988434	chr14:63777074-63777075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551573940	chr14:63777075-63777076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190554653	chr14:63777123-63777124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539621324	chr14:63777139-63777140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181709341	chr14:63777143-63777144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139381506	chr14:63777146-63777147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185668465	chr14:63777147-63777148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1255570	chr14:63777152-63777153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs367716272	chr14:63777187-63777188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575463136	chr14:63777194-63777195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191625400	chr14:63777196-63777197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs8008058	chr14:63777253-63777254	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:61)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63772600-63777200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:63777200-63779000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr14:63779600-63780400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:63779800-63780000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr14:63779800-63780200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr14:63780000-63780400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:63784200-63784600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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