Variant report

Variant	esv2422320
Chromosome Location	chr14:44674615-44793438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:321)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:44786011-44786505	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:44786027-44786367	K562	blood:	n/a	n/a
3	ATF1	chr14:44786110-44786462	K562	blood:	n/a	n/a
4	ATF3	chr14:44786106-44786596	HCT-116	colon:	n/a	n/a
5	ATF3	chr14:44786091-44786377	K562	blood:	n/a	n/a
6	ATF3	chr14:44786000-44786531	HCT-116	colon:	n/a	n/a
7	ATF3	chr14:44786185-44786384	HepG2	liver:	n/a	n/a
8	ATF3	chr14:44786082-44786534	A549	lung:	n/a	n/a
9	ATF3	chr14:44786197-44786335	K562	blood:	n/a	n/a
10	BATF	chr14:44786178-44786410	GM12878	blood:	n/a	n/a
11	BATF	chr14:44786155-44786410	GM12878	blood:	n/a	n/a
12	BCL3	chr14:44786061-44786449	GM12878	blood:	n/a	n/a
13	BHLHE40	chr14:44786155-44786484	K562	blood:	n/a	n/a
14	BHLHE40	chr14:44786136-44786463	HepG2	liver:	n/a	n/a
15	CBX3	chr14:44785944-44786626	HCT-116	colon:	n/a	n/a
16	CEBPB	chr14:44786074-44786501	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr14:44716897-44717105	HepG2	liver:	n/a	chr14:44716988-44716999
18	CEBPB	chr14:44675596-44675858	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr14:44785605-44785900	MCF-7	breast:	n/a	n/a
20	CEBPB	chr14:44675063-44675294	HepG2	liver:	n/a	chr14:44675185-44675198 chr14:44675185-44675198 chr14:44675186-44675197 chr14:44675185-44675196
21	CEBPB	chr14:44785988-44786493	A549	lung:	n/a	n/a
22	CEBPB	chr14:44719548-44719704	HepG2	liver:	n/a	chr14:44719600-44719611
23	CEBPB	chr14:44720855-44721077	HepG2	liver:	n/a	chr14:44720970-44720981
24	CHD1	chr14:44785940-44786615	IMR90	lung:	n/a	n/a
25	CHD2	chr14:44785974-44786422	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr14:44720420-44720570	MCF-7	breast:	n/a	n/a
27	CTCF	chr14:44720350-44720471	MCF-7	breast:	n/a	n/a
28	CTCF	chr14:44784912-44784970	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr14:44786279-44786358	NHEK	skin:	n/a	n/a
30	CTCF	chr14:44720308-44720568	MCF-7	breast:	n/a	n/a
31	CTCF	chr14:44720368-44720438	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:44720378-44720435	HepG2	liver:	n/a	n/a
33	E2F4	chr14:44757324-44757524	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr14:44779138-44779258	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr14:44717666-44717806	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F4	chr14:44716740-44716940	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F4	chr14:44786186-44786386	MCF10A-Er-Src	breast:	n/a	n/a
38	E2F4	chr14:44769694-44769936	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F4	chr14:44744584-44744900	MCF10A-Er-Src	breast:	n/a	n/a
40	E2F6	chr14:44786034-44786598	A549	lung:	n/a	n/a
41	EGR1	chr14:44786004-44786557	HCT-116	colon:	n/a	n/a
42	EP300	chr14:44785960-44786570	A549	lung:	n/a	n/a
43	EP300	chr14:44785789-44786836	ECC-1	luminal epithelium:	n/a	n/a
44	EP300	chr14:44785918-44786634	ECC-1	luminal epithelium:	n/a	n/a
45	EP300	chr14:44785930-44786543	A549	lung:	n/a	n/a
46	EP300	chr14:44786083-44786427	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr14:44786155-44786448	K562	blood:	n/a	n/a
48	EP300	chr14:44786149-44786431	GM12878	blood:	n/a	n/a
49	EP300	chr14:44786129-44786468	HepG2	liver:	n/a	n/a
50	EP300	chr14:44786057-44786457	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:44755644..44758887-chr14:44761125..44763162,3	K562	blood:
2	chr14:44754776..44756782-chr14:44760420..44763272,3	MCF-7	breast:
3	chr14:44755644..44758887-chr14:44761125..44763162,3	K562	blood:
4	chr14:44785511..44787603-chr14:44801475..44804165,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSCB-5	chr14:44760200-44760921	NONHSAT036604

No data

Variant related genes	Relation type
ENSG00000259148	TF binding region
ENSG00000259148	chromatin interactions

Extended variants
information (count: 986 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:986 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529488075	chr14:44674690-44674691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548808137	chr14:44674696-44674697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369954565	chr14:44674761-44674762	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200371115	chr14:44674792-44674793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559648598	chr14:44674795-44674796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111851966	chr14:44674800-44674801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531454058	chr14:44674811-44674812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189212098	chr14:44674825-44674826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7154765	chr14:44674826-44674827	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs547535214	chr14:44674855-44674856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549139750	chr14:44674910-44674911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192894740	chr14:44674934-44674935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72682676	chr14:44674972-44674973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140232854	chr14:44674973-44674974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571578390	chr14:44675007-44675008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74043586	chr14:44675032-44675033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549328079	chr14:44675071-44675072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567558315	chr14:44675127-44675128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557868858	chr14:44675196-44675197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs17648237	chr14:44675265-44675266	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs373998341	chr14:44675338-44675339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183470731	chr14:44675349-44675350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555477530	chr14:44675396-44675397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11157388	chr14:44675470-44675471	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541249236	chr14:44675516-44675517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559486419	chr14:44675539-44675540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146925915	chr14:44675654-44675655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200363888	chr14:44675661-44675662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545638423	chr14:44675667-44675668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1959212	chr14:44675668-44675669	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs534072372	chr14:44675686-44675687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530561068	chr14:44675707-44675708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548976626	chr14:44675786-44675787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570292824	chr14:44675799-44675800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538887877	chr14:44675814-44675815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553734773	chr14:44675891-44675892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs137959814	chr14:44675895-44675896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188414326	chr14:44675935-44675936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs538454291	chr14:44675939-44675940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12588322	chr14:44675950-44675951	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs76827610	chr14:44675971-44675972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537075433	chr14:44675975-44675976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78521166	chr14:44675986-44675987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558637847	chr14:44696809-44696810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17114812	chr14:44696822-44696823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538001680	chr14:44696863-44696864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556596771	chr14:44696865-44696866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114220553	chr14:44696912-44696913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574723311	chr14:44696975-44696976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535616063	chr14:44696985-44696986	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	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
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:44673200-44675800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr14:44673400-44675400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr14:44674000-44675000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr14:44674400-44674800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:44674400-44675000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:44674600-44675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr14:44675000-44675200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr14:44675000-44676000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr14:44675600-44675800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr14:44675600-44675800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr14:44696800-44697200	Enhancers	Adipose Nuclei	Adipose
12	chr14:44698200-44701400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr14:44698400-44698600	Weak transcription	Adipose Nuclei	Adipose
14	chr14:44698800-44699200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
15	chr14:44698800-44699400	ZNF genes & repeats	Pancreas	Pancrea
16	chr14:44701400-44701600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr14:44733600-44734600	Enhancers	Fetal Intestine Small	intestine
18	chr14:44733600-44735000	Enhancers	Fetal Intestine Large	intestine
19	chr14:44743000-44743800	Enhancers	Fetal Heart	heart
20	chr14:44752200-44752800	Enhancers	NHDF-Ad	bronchial
21	chr14:44756800-44757200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:44760000-44761600	Enhancers	Fetal Heart	heart
23	chr14:44766000-44766200	Enhancers	Fetal Muscle Trunk	muscle
24	chr14:44770000-44771400	Enhancers	HUVEC	blood vessel
25	chr14:44770200-44771000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:44778000-44779600	Enhancers	HMEC	breast
27	chr14:44778200-44778400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:44778200-44779800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:44778400-44779400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:44778600-44779000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr14:44778600-44779200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr14:44779400-44780000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:44780000-44785200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:44784200-44787000	Enhancers	HUVEC	blood vessel
35	chr14:44785000-44786800	Enhancers	NHDF-Ad	bronchial
36	chr14:44785200-44787000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:44785200-44787000	Enhancers	HMEC	breast
38	chr14:44785400-44785600	Active TSS	NHEK	skin
39	chr14:44785400-44786000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:44785400-44786000	Enhancers	A549	lung
41	chr14:44785400-44786600	Enhancers	Hela-S3	cervix
42	chr14:44785600-44785800	Flanking Active TSS	NHEK	skin
43	chr14:44785600-44786800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:44785600-44786800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:44785600-44786800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:44785600-44786800	Enhancers	NH-A	brain
47	chr14:44785600-44787000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr14:44785800-44786800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:44785800-44786800	Enhancers	Fetal Intestine Large	intestine
50	chr14:44785800-44787000	Enhancers	NHEK	skin

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