Variant report

Variant	nsv974270
Chromosome Location	chr14:39664152-39680061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:39673211-39673441	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr14:39673328-39673422	Hela-S3	cervix:	n/a	n/a
3	CBX3	chr14:39672960-39673548	K562	blood:	n/a	n/a
4	CEBPB	chr14:39679495-39679634	K562	blood:	n/a	n/a
5	CEBPB	chr14:39679437-39679623	HepG2	liver:	n/a	n/a
6	CEBPB	chr14:39679408-39679716	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr14:39679543-39679574	IMR90	lung:	n/a	n/a
8	CEBPB	chr14:39670879-39671145	MCF-7	breast:	n/a	chr14:39670976-39670987
9	CEBPB	chr14:39679419-39679747	HepG2	liver:	n/a	n/a
10	CEBPB	chr14:39670920-39671055	HepG2	liver:	n/a	chr14:39670976-39670987
11	CEBPB	chr14:39679361-39679777	MCF-7	breast:	n/a	n/a
12	CEBPB	chr14:39670935-39670993	K562	blood:	n/a	chr14:39670976-39670987
13	CHD2	chr14:39673185-39673601	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr14:39673295-39673516	K562	blood:	n/a	n/a
15	CTCF	chr14:39672760-39672910	HepG2	liver:	n/a	n/a
16	CTCF	chr14:39673120-39673270	HepG2	liver:	n/a	n/a
17	CTCF	chr14:39673180-39673330	GM12875	blood:	n/a	n/a
18	CTCF	chr14:39673540-39673690	HEEpiC	esophagus:	n/a	n/a
19	EGR1	chr14:39673078-39673376	K562	blood:	n/a	n/a
20	EGR1	chr14:39664702-39664892	K562	blood:	n/a	n/a
21	EGR1	chr14:39673082-39673580	K562	blood:	n/a	n/a
22	ELF1	chr14:39673179-39673546	K562	blood:	n/a	n/a
23	EP300	chr14:39673313-39673505	K562	blood:	n/a	n/a
24	EP300	chr14:39672980-39673648	A549	lung:	n/a	n/a
25	EP300	chr14:39673015-39673728	A549	lung:	n/a	n/a
26	FOS	chr14:39673135-39673454	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr14:39673135-39673452	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr14:39673151-39673451	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr14:39673293-39673358	MCF10A-Er-Src	breast:	n/a	n/a
30	FOSL2	chr14:39672831-39673538	HepG2	liver:	n/a	n/a
31	FOSL2	chr14:39673135-39673443	A549	lung:	n/a	n/a
32	FOSL2	chr14:39673085-39673550	A549	lung:	n/a	n/a
33	FOXA1	chr14:39679360-39679788	HepG2	liver:	n/a	n/a
34	FOXA1	chr14:39673028-39673550	HepG2	liver:	n/a	n/a
35	FOXA1	chr14:39679416-39679783	HepG2	liver:	n/a	n/a
36	FOXA1	chr14:39673111-39673562	HepG2	liver:	n/a	n/a
37	FOXA1	chr14:39676207-39676541	HepG2	liver:	n/a	n/a
38	FOXA2	chr14:39673148-39673517	HepG2	liver:	n/a	n/a
39	FOXA2	chr14:39672906-39673615	A549	lung:	n/a	n/a
40	FOXA2	chr14:39679424-39679721	HepG2	liver:	n/a	n/a
41	FOXA2	chr14:39673135-39673653	A549	lung:	n/a	n/a
42	GATA3	chr14:39670742-39671295	MCF-7	breast:	n/a	n/a
43	GATA3	chr14:39670724-39671313	MCF-7	breast:	n/a	n/a
44	HCFC1	chr14:39673084-39673759	Hela-S3	cervix:	n/a	n/a
45	IRF1	chr14:39673179-39673461	K562	blood:	n/a	n/a
46	JUND	chr14:39673239-39673396	HepG2	liver:	n/a	chr14:39673312-39673323
47	JUND	chr14:39673133-39673502	HepG2	liver:	n/a	chr14:39673312-39673323
48	JUND	chr14:39673110-39673558	A549	lung:	n/a	chr14:39673312-39673323
49	MAFF	chr14:39673194-39673434	HepG2	liver:	n/a	chr14:39673312-39673330
50	MAFK	chr14:39673242-39673502	Hela-S3	cervix:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39582452..39584662-chr14:39670252..39672838,2	MCF-7	breast:
2	chr14:39666993..39668682-chr14:39671014..39673008,3	K562	blood:
3	chr14:39652103..39654981-chr14:39673043..39674708,2	K562	blood:
4	chr14:39659557..39662468-chr14:39664703..39667964,3	K562	blood:
5	chr14:39652084..39653603-chr14:39673208..39674961,2	K562	blood:
6	chr14:39666993..39668682-chr14:39671014..39673008,3	K562	blood:
7	chr14:39642610..39646092-chr14:39673338..39676993,4	MCF-7	breast:
8	chr14:39669831..39673091-chr14:39734420..39737193,3	MCF-7	breast:
9	chr14:39654966..39657894-chr14:39668988..39671853,2	K562	blood:
10	chr14:39646608..39648322-chr14:39671644..39674321,2	K562	blood:
11	chr14:39660968..39663251-chr14:39664703..39666593,2	K562	blood:
12	chr14:39654966..39657537-chr14:39669625..39671853,2	K562	blood:
13	chr14:39659021..39661410-chr14:39671300..39673162,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PNN-2	chr14:39664019-39664587	NONHSAT036525

No data

Variant related genes	Relation type
ENSG00000258671	TF binding region
ENSG00000270503	TF binding region
ENSG00000150527	chromatin interactions
ENSG00000100941	chromatin interactions
ENSG00000092208	chromatin interactions
ENSG00000259083	chromatin interactions
ENSG00000258941	chromatin interactions
ENSG00000258940	chromatin interactions

Extended variants
information (count: 622 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181217511	chr14:39664202-39664203	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs528935009	chr14:39664215-39664216	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs542739005	chr14:39664223-39664224	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs186488400	chr14:39664246-39664247	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs13379129	chr14:39664259-39664260	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142062391	chr14:39664306-39664307	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs12432722	chr14:39664359-39664360	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs72673361	chr14:39664361-39664362	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568962968	chr14:39664388-39664389	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs12432764	chr14:39664413-39664414	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567556704	chr14:39664418-39664419	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs566525165	chr14:39664501-39664502	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs535463359	chr14:39664504-39664505	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs549028064	chr14:39664587-39664588	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs367901528	chr14:39664658-39664659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377122901	chr14:39664679-39664680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537623590	chr14:39664690-39664691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557909992	chr14:39664704-39664705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577793437	chr14:39664719-39664720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7150534	chr14:39664767-39664768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs552214267	chr14:39664773-39664774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72673362	chr14:39664793-39664794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573633485	chr14:39664794-39664795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542653474	chr14:39664810-39664811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562534584	chr14:39664828-39664829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375491987	chr14:39664950-39664951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576225208	chr14:39665005-39665006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57555422	chr14:39665059-39665060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs118118981	chr14:39665121-39665122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377461051	chr14:39665208-39665209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547225449	chr14:39665249-39665250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560425055	chr14:39665281-39665282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150332067	chr14:39665286-39665287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs8018947	chr14:39665313-39665314	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs546774522	chr14:39665339-39665340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112052263	chr14:39665345-39665346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538319501	chr14:39665380-39665381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551621570	chr14:39665415-39665416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545080420	chr14:39665607-39665608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115602500	chr14:39665632-39665633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs114669077	chr14:39665652-39665653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568261530	chr14:39665682-39665683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554066730	chr14:39665683-39665684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58861913	chr14:39665689-39665690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59107229	chr14:39665713-39665714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs57612954	chr14:39665723-39665724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56745149	chr14:39665731-39665732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535587446	chr14:39665764-39665765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553225567	chr14:39665767-39665768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139355000	chr14:39665779-39665780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39654400-39672000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:39658000-39672400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:39668200-39673000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr14:39671000-39672400	Enhancers	HepG2	liver
5	chr14:39671200-39672800	Enhancers	Hela-S3	cervix
6	chr14:39671400-39671600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:39671400-39671600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:39671400-39672000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr14:39671400-39672000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:39671400-39672600	Enhancers	A549	lung
11	chr14:39671600-39671800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr14:39671600-39672600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:39671600-39672800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:39671800-39672800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:39672000-39672400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr14:39672000-39674000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:39672000-39674000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:39672000-39674000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:39672400-39673200	Flanking Active TSS	HepG2	liver
20	chr14:39672400-39673600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:39672400-39674000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:39672400-39674000	Enhancers	Fetal Intestine Large	intestine
23	chr14:39672600-39673200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr14:39672600-39673200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr14:39672600-39673600	Enhancers	Duodenum Mucosa	Duodenum
26	chr14:39672600-39673600	Enhancers	Stomach Mucosa	stomach
27	chr14:39672600-39673800	Flanking Active TSS	A549	lung
28	chr14:39672600-39673800	Enhancers	K562	blood
29	chr14:39672600-39674000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:39672600-39674000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr14:39672600-39674000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr14:39672600-39674000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr14:39672600-39674000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:39672600-39674000	Enhancers	Fetal Intestine Small	intestine
35	chr14:39672600-39674000	Enhancers	NHEK	skin
36	chr14:39672800-39673000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr14:39672800-39673600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:39672800-39673800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr14:39672800-39673800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:39672800-39673800	Enhancers	Esophagus	oesophagus
41	chr14:39672800-39673800	Flanking Active TSS	Hela-S3	cervix
42	chr14:39672800-39674000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr14:39672800-39674000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr14:39672800-39674000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:39672800-39674000	Enhancers	HMEC	breast
46	chr14:39673000-39673800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr14:39673000-39673800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:39673000-39673800	Enhancers	Colonic Mucosa	Colon
49	chr14:39673200-39673400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr14:39673200-39673800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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