Variant report

Variant	nsv983841
Chromosome Location	chr14:70935862-70939179
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	ATF2	chr14:70938876-70939354	GM12878	blood:	n/a	n/a
2	ATF2	chr14:70938814-70939410	GM12878	blood:	n/a	n/a
3	BATF	chr14:70938876-70939244	GM12878	blood:	n/a	chr14:70939216-70939226
4	BATF	chr14:70938921-70939359	GM12878	blood:	n/a	chr14:70939216-70939226
5	BCL11A	chr14:70938883-70939290	GM12878	blood:	n/a	chr14:70939214-70939223 chr14:70939215-70939224
6	BCL3	chr14:70938943-70939332	GM12878	blood:	n/a	chr14:70939214-70939223 chr14:70939215-70939224
7	BHLHE40	chr14:70938861-70939278	GM12878	blood:	n/a	n/a
8	CEBPB	chr14:70938001-70938336	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr14:70938784-70939867	GM12878	blood:	n/a	n/a
10	CEBPB	chr14:70937430-70937519	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr14:70938931-70939308	GM12878	blood:	n/a	n/a
12	CREB1	chr14:70938863-70939421	GM12878	blood:	n/a	n/a
13	CTCF	chr14:70936580-70936635	GM13977	blood:	n/a	n/a
14	CTCF	chr14:70936330-70936387	ProgFib	skin:	n/a	n/a
15	CUX1	chr14:70938908-70939746	GM12878	blood:	n/a	n/a
16	E2F4	chr14:70938833-70939459	MCF10A-Er-Src	breast:	n/a	n/a
17	EBF1	chr14:70939017-70939294	GM12878	blood:	n/a	n/a
18	EP300	chr14:70938882-70939282	GM12878	blood:	n/a	chr14:70939215-70939224 chr14:70939214-70939223
19	EP300	chr14:70938935-70939949	GM12878	blood:	n/a	chr14:70939215-70939224 chr14:70939520-70939534 chr14:70939214-70939223
20	FOS	chr14:70939049-70939369	MCF10A-Er-Src	breast:	n/a	chr14:70939214-70939223 chr14:70939215-70939223 chr14:70939215-70939224 chr14:70939216-70939223 chr14:70939055-70939067 chr14:70939169-70939178
21	FOS	chr14:70939114-70939230	MCF10A-Er-Src	breast:	n/a	chr14:70939214-70939223 chr14:70939215-70939223 chr14:70939215-70939224 chr14:70939216-70939223 chr14:70939169-70939178
22	FOS	chr14:70939072-70939254	MCF10A-Er-Src	breast:	n/a	chr14:70939214-70939223 chr14:70939215-70939223 chr14:70939215-70939224 chr14:70939216-70939223 chr14:70939169-70939178
23	FOS	chr14:70939065-70939374	MCF10A-Er-Src	breast:	n/a	chr14:70939214-70939223 chr14:70939215-70939223 chr14:70939215-70939224 chr14:70939216-70939223 chr14:70939169-70939178
24	FOXM1	chr14:70938784-70939893	GM12878	blood:	n/a	n/a
25	IKZF1	chr14:70939066-70939220	GM12878	blood:	n/a	n/a
26	JUN	chr14:70939074-70939320	HepG2	liver:	n/a	chr14:70939214-70939223 chr14:70939215-70939223 chr14:70939188-70939201 chr14:70939215-70939224 chr14:70939216-70939223 chr14:70939169-70939178
27	JUND	chr14:70939049-70939359	HepG2	liver:	n/a	chr14:70939214-70939223 chr14:70939215-70939223 chr14:70939215-70939224 chr14:70939216-70939223 chr14:70939055-70939067 chr14:70939169-70939178 chr14:70939213-70939224
28	MAX	chr14:70937550-70937780	H1-hESC	embryonic stem cell:	n/a	n/a
29	MEF2A	chr14:70938810-70939425	GM12878	blood:	n/a	chr14:70939249-70939264 chr14:70939116-70939130
30	MEF2A	chr14:70938862-70939281	GM12878	blood:	n/a	chr14:70939249-70939264 chr14:70939116-70939130
31	MEF2C	chr14:70938870-70939414	GM12878	blood:	n/a	chr14:70939249-70939264 chr14:70939114-70939129 chr14:70939116-70939130
32	MXI1	chr14:70938976-70939281	GM12878	blood:	n/a	n/a
33	MYC	chr14:70936823-70936937	HUVEC	blood vessel:	n/a	n/a
34	NFATC1	chr14:70938841-70939398	GM12878	blood:	n/a	n/a
35	NFIC	chr14:70938921-70939792	GM12878	blood:	n/a	n/a
36	NFIC	chr14:70938787-70940077	GM12878	blood:	n/a	n/a
37	PML	chr14:70938805-70939431	GM12878	blood:	n/a	n/a
38	POLR2A	chr14:70937459-70938277	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr14:70937640-70937652	A549	lung:	n/a	n/a
40	POLR2A	chr14:70937825-70938156	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr14:70936045-70936109	ProgFib	skin:	n/a	n/a
42	POLR2A	chr14:70937428-70938117	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr14:70937905-70938125	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr14:70938491-70938562	MCF10A-Er-Src	breast:	n/a	n/a
45	RCOR1	chr14:70938692-70939245	GM12878	blood:	n/a	n/a
46	RUNX3	chr14:70935532-70935938	GM12878	blood:	n/a	chr14:70935780-70935789 chr14:70935780-70935789
47	RUNX3	chr14:70938824-70939408	GM12878	blood:	n/a	n/a
48	SRF	chr14:70939011-70939252	GM12878	blood:	n/a	n/a
49	STAT1	chr14:70939053-70939118	GM12878	blood:	n/a	n/a
50	STAT3	chr14:70939040-70939257	GM12878	blood:	n/a	chr14:70939214-70939223 chr14:70939215-70939224

Variant related genes	Relation type
ENSG00000176082	TF binding region

Extended variants
information (count: 146 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2293877	chr14:70935875-70935876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368205668	chr14:70935909-70935910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568054180	chr14:70935935-70935936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17107991	chr14:70935936-70935937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536068641	chr14:70935946-70935947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537003264	chr14:70935953-70935954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565791475	chr14:70935969-70935970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539226509	chr14:70936005-70936006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557956808	chr14:70936018-70936019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192566849	chr14:70936034-70936035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537340742	chr14:70936062-70936063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555419196	chr14:70936108-70936109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574443570	chr14:70936126-70936127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555663665	chr14:70936135-70936136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2293876	chr14:70936212-70936213	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374718817	chr14:70936234-70936235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573961329	chr14:70936246-70936247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569094137	chr14:70936260-70936261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184939319	chr14:70936269-70936270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369975147	chr14:70936281-70936282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564686333	chr14:70936292-70936293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531851314	chr14:70936307-70936308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544092513	chr14:70936308-70936309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562371947	chr14:70936331-70936332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116498676	chr14:70936332-70936333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547433280	chr14:70936339-70936340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565754697	chr14:70936355-70936356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533027136	chr14:70936374-70936375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534963915	chr14:70936440-70936441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35905405	chr14:70936497-70936498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569826813	chr14:70936509-70936510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138046198	chr14:70936535-70936536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372023058	chr14:70936579-70936580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548823109	chr14:70936651-70936652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2293874	chr14:70936672-70936673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535428541	chr14:70936701-70936702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2293873	chr14:70936714-70936715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs34620293	chr14:70936716-70936717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572382526	chr14:70936734-70936735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs45624236	chr14:70936789-70936790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558016186	chr14:70936835-70936836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111562158	chr14:70936840-70936841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576534249	chr14:70936850-70936851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543665627	chr14:70936915-70936916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148677818	chr14:70936930-70936931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574409985	chr14:70936964-70936965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143479796	chr14:70936985-70936986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559378773	chr14:70937014-70937015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577972095	chr14:70937026-70937027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532832121	chr14:70937027-70937028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70910600-70955600	Weak transcription	Left Ventricle	heart
2	chr14:70917000-70940200	Weak transcription	Aorta	Aorta
3	chr14:70921800-70940000	Weak transcription	Psoas Muscle	Psoas
4	chr14:70932400-70937600	Weak transcription	Adipose Nuclei	Adipose
5	chr14:70933400-70941200	Weak transcription	Brain Hippocampus Middle	brain
6	chr14:70934000-70937600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr14:70934200-70943800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:70934600-70937000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:70935400-70940200	Weak transcription	Liver	Liver
10	chr14:70935600-70938200	Weak transcription	Brain Angular Gyrus	brain
11	chr14:70935800-70937000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr14:70936000-70943800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr14:70936600-70939200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:70936800-70939800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr14:70937000-70937600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr14:70937000-70938200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr14:70937000-70939800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:70937200-70937600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr14:70937400-70937800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:70937400-70938400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:70937400-70939200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr14:70937400-70939200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr14:70937600-70937800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:70937600-70938000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:70937600-70938600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:70937600-70938600	Strong transcription	Adipose Nuclei	Adipose
27	chr14:70937600-70939000	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr14:70937600-70939600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:70937800-70938400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:70937800-70944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr14:70938000-70939000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr14:70938200-70938600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr14:70938200-70938800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr14:70938400-70938600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:70938400-70939000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr14:70938600-70940000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr14:70938600-70940200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:70938600-70940200	Weak transcription	Adipose Nuclei	Adipose
39	chr14:70938600-70940400	Enhancers	GM12878-XiMat	blood
40	chr14:70938600-70943600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:70938800-70941800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr14:70939000-70939200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr14:70939000-70939400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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