Variant report

Variant	nsv456210
Chromosome Location	chr14:38691569-38752752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:425)
CpG islands
(count:855)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:425 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:38724903-38725003	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr14:38724550-38724659	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr14:38721632-38721832	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:38726753-38727143	Hela-S3	cervix:	n/a	chr14:38726951-38726964
5	CEBPB	chr14:38751469-38751487	HepG2	liver:	n/a	chr14:38751475-38751486 chr14:38751476-38751487
6	CEBPB	chr14:38730891-38731169	A549	lung:	n/a	chr14:38731020-38731031
7	CEBPB	chr14:38725636-38725973	H1-hESC	embryonic stem cell:	n/a	chr14:38725812-38725823
8	CEBPB	chr14:38713058-38713376	IMR90	lung:	n/a	chr14:38713219-38713230
9	CEBPB	chr14:38747950-38748060	HepG2	liver:	n/a	n/a
10	CEBPB	chr14:38730845-38731197	HepG2	liver:	n/a	chr14:38731020-38731031
11	CEBPB	chr14:38725626-38725956	IMR90	lung:	n/a	chr14:38725812-38725823
12	CEBPB	chr14:38730845-38731204	Hela-S3	cervix:	n/a	chr14:38731020-38731031
13	CEBPB	chr14:38713192-38713257	A549	lung:	n/a	chr14:38713219-38713230
14	CEBPB	chr14:38713064-38713362	Hela-S3	cervix:	n/a	chr14:38713219-38713230
15	CEBPB	chr14:38708102-38708636	Hela-S3	cervix:	n/a	chr14:38708494-38708511
16	CEBPB	chr14:38746895-38748156	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr14:38725780-38725897	HepG2	liver:	n/a	chr14:38725812-38725823
18	CEBPB	chr14:38713066-38713373	HepG2	liver:	n/a	chr14:38713219-38713230
19	CEBPB	chr14:38726757-38727088	IMR90	lung:	n/a	chr14:38726951-38726964
20	CEBPB	chr14:38730876-38731203	IMR90	lung:	n/a	chr14:38731020-38731031
21	CHD1	chr14:38724531-38724590	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTBP2	chr14:38723721-38725562	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr14:38717920-38718070	HA-sp	spinal cord:	n/a	n/a
24	CTCF	chr14:38724340-38724490	HCM	heart:	n/a	n/a
25	CTCF	chr14:38717960-38718110	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr14:38717940-38718090	NHLF	lung:	n/a	n/a
27	CTCF	chr14:38724601-38724847	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr14:38725780-38725930	HPF	lung:	n/a	chr14:38725842-38725851 chr14:38725842-38725855
29	CTCF	chr14:38717900-38718050	AG04450	lung:	n/a	n/a
30	CTCF	chr14:38717944-38718102	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr14:38724780-38724930	BJ	skin:	n/a	n/a
32	CTCF	chr14:38717940-38718090	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr14:38725780-38725930	AG10803	skin:	n/a	chr14:38725842-38725851 chr14:38725842-38725855
34	CTCF	chr14:38717920-38718070	HVMF	connective:	n/a	n/a
35	CTCF	chr14:38717960-38718110	AG04449	skin:	n/a	n/a
36	CTCF	chr14:38717921-38718153	HepG2	liver:	n/a	n/a
37	CTCF	chr14:38717860-38718010	HFF-Myc	foreskin:	n/a	n/a
38	CTCF	chr14:38725760-38725910	MCF-7	breast:	n/a	chr14:38725842-38725851 chr14:38725842-38725855
39	CTCF	chr14:38717956-38718110	ProgFib	skin:	n/a	n/a
40	CTCF	chr14:38724460-38724610	HRE	kidney:	n/a	n/a
41	CTCF	chr14:38705880-38706030	HCT-116	colon:	n/a	n/a
42	CTCF	chr14:38717940-38718090	RPTEC	kidney:	n/a	n/a
43	CTCF	chr14:38725760-38725910	HUVEC	blood vessel:	n/a	chr14:38725842-38725851 chr14:38725842-38725855
44	CTCF	chr14:38725760-38725910	AG04450	lung:	n/a	chr14:38725842-38725851 chr14:38725842-38725855
45	CTCF	chr14:38717940-38718090	BE2_C	brain:	n/a	n/a
46	CTCF	chr14:38717942-38718109	Fibrobl	skin:	n/a	n/a
47	CTCF	chr14:38717880-38718030	GM12866	blood:	n/a	n/a
48	CTCF	chr14:38725120-38725270	AG04449	skin:	n/a	n/a
49	CTCF	chr14:38717880-38718030	A549	lung:	n/a	n/a
50	CTCF	chr14:38717920-38718070	HPF	lung:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:38725312-38725362	HNPCEpiC	eye:	n/a
2	chr14:38725312-38725362	HNPCEpiC	eye:	n/a
3	chr14:38725312-38725362	AG09319	gingival:	n/a
4	chr14:38724675-38724725	MCF10A-Er-Src	breast:	n/a
5	chr14:38724648-38724698	AG04449	skin:	fetal
6	chr14:38727014-38727064	NH-A	brain:	n/a
7	chr14:38726189-38726239	HNPCEpiC	eye:	n/a
8	chr14:38724255-38724305	AG10803	skin:	n/a
9	chr14:38725710-38725760	SAEC	small airway:	n/a
10	chr14:38725656-38725706	K562	blood:	n/a
11	chr14:38724945-38724995	NB4	blood:	n/a
12	chr14:38725312-38725362	HRCEpiC	kidney:	n/a
13	chr14:38724675-38724725	SK-N-SH	brain:	n/a
14	chr14:38724945-38724995	GM19239	blood:	n/a
15	chr14:38725650-38725700	CMK	blood:	n/a
16	chr14:38726189-38726239	ProgFib	skin:	n/a
17	chr14:38725710-38725760	HEK293	kidney:	embryo
18	chr14:38728932-38728982	HCT-116	colon:	n/a
19	chr14:38725710-38725760	HUVEC	blood vessel:	n/a
20	chr14:38724945-38724995	HL-60	blood:	n/a
21	chr14:38728932-38728982	MCF-7	breast:	n/a
22	chr14:38725650-38725700	ProgFib	skin:	n/a
23	chr14:38724648-38724698	AoSMC	blood vessel:	n/a
24	chr14:38723500-38723550	AoSMC	blood vessel:	n/a
25	chr14:38728932-38728982	HEK293	kidney:	embryo
26	chr14:38727014-38727064	HRPEpiC	eye:	n/a
27	chr14:38725710-38725760	SK-N-SH_RA	brain:	n/a
28	chr14:38726189-38726239	PANC-1	pancreas:	n/a
29	chr14:38726189-38726239	AG10803	skin:	n/a
30	chr14:38725312-38725362	Hepatocyte	liver:	n/a
31	chr14:38724675-38724725	Hela-S3	cervix:	n/a
32	chr14:38725656-38725706	PFSK-1	brain:	n/a
33	chr14:38724945-38724995	SAEC	small airway:	n/a
34	chr14:38725650-38725700	SK-N-SH_RA	brain:	n/a
35	chr14:38724675-38724725	SKMC	muscle:	n/a
36	chr14:38727014-38727064	H1-hESC	embryonic stem cell:	embryo
37	chr14:38723500-38723550	ECC-1	luminal epithelium:	n/a
38	chr14:38727014-38727064	HepG2	liver:	n/a
39	chr14:38724648-38724698	SAEC	small airway:	n/a
40	chr14:38725656-38725706	GM12892	blood:	n/a
41	chr14:38725650-38725700	Hela-S3	cervix:	n/a
42	chr14:38727014-38727064	SK-N-SH_RA	brain:	n/a
43	chr14:38725536-38725586	MCF-7	breast:	n/a
44	chr14:38724648-38724698	SK-N-SH_RA	brain:	n/a
45	chr14:38725710-38725760	Hela-S3	cervix:	n/a
46	chr14:38724945-38724995	HAEpiC	amniotic membrane:	n/a
47	chr14:38725312-38725362	Hela-S3	cervix:	n/a
48	chr14:38725650-38725700	HUVEC	blood vessel:	n/a
49	chr14:38724648-38724698	BE2_C	brain:	n/a
50	chr14:38724255-38724305	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:38747104..38750006-chr14:38750069..38751673,2	MCF-7	breast:
2	chr14:38741056..38743314-chr14:38745242..38747930,2	MCF-7	breast:
3	chr14:38741056..38743314-chr14:38745242..38747930,2	MCF-7	breast:
4	chr14:38743017..38744664-chr14:38746124..38747867,2	MCF-7	breast:
5	chr14:38747104..38750006-chr14:38750069..38751673,2	MCF-7	breast:
6	chr14:38689000..38690587-chr14:38700372..38702993,2	K562	blood:
7	chr14:38743017..38744664-chr14:38746124..38747867,2	MCF-7	breast:

No data

Variant related genes	Relation type
CLEC14A	TF binding region
ENSG00000264234	TF binding region
CLEC14A	CpG island
ENSG00000264234	CpG island

Extended variants
information (count: 1609 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1609 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4371078	chr14:38691569-38691570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549096336	chr14:38691574-38691575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568737792	chr14:38691646-38691647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562397587	chr14:38691659-38691660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201821911	chr14:38691660-38691661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566106610	chr14:38691661-38691662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531357722	chr14:38691671-38691672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151063808	chr14:38691745-38691746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142766471	chr14:38691746-38691747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533926472	chr14:38691761-38691762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554003605	chr14:38691797-38691798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376131601	chr14:38691798-38691799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146956457	chr14:38691799-38691800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535558687	chr14:38691809-38691810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536642789	chr14:38691832-38691833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555853917	chr14:38691843-38691844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575517355	chr14:38691884-38691885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544605146	chr14:38691893-38691894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572775485	chr14:38691914-38691915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs8007451	chr14:38691957-38691958	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs137946347	chr14:38691986-38691987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367753182	chr14:38692011-38692012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540566675	chr14:38692016-38692017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569930311	chr14:38692043-38692044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199856078	chr14:38692045-38692046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397714297	chr14:38692063-38692064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367943762	chr14:38692157-38692158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4901723	chr14:38692162-38692163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186153263	chr14:38692188-38692189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573772025	chr14:38692286-38692287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190859927	chr14:38692359-38692360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12887084	chr14:38692410-38692411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs183372817	chr14:38692411-38692412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551358225	chr14:38692423-38692424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374170416	chr14:38692457-38692458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571307700	chr14:38692488-38692489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143848502	chr14:38692534-38692535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12887290	chr14:38692555-38692556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556960821	chr14:38692573-38692574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536463753	chr14:38692575-38692576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527598913	chr14:38692576-38692577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569339123	chr14:38692619-38692620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113353946	chr14:38692624-38692625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538001734	chr14:38692635-38692636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533069253	chr14:38692642-38692643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557722647	chr14:38692696-38692697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141311277	chr14:38692757-38692758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372568160	chr14:38692811-38692812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554063673	chr14:38692823-38692824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186775806	chr14:38692824-38692825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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	21364760	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
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38690200-38691600	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr14:38690400-38691600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr14:38690400-38691800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr14:38690600-38693600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:38691000-38692000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr14:38691000-38693800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:38691200-38692000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr14:38691800-38692000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:38693600-38694000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr14:38693800-38694200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr14:38693800-38694400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:38693800-38694400	Enhancers	Liver	Liver
13	chr14:38694400-38702000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr14:38706600-38707400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:38706600-38708400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr14:38707000-38708400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:38707000-38708400	Enhancers	NHDF-Ad	bronchial
18	chr14:38707400-38707800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:38707400-38708200	Enhancers	NHLF	lung
20	chr14:38707400-38708600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:38707400-38708600	Enhancers	Hela-S3	cervix
22	chr14:38707800-38708000	Enhancers	HSMMtube	muscle
23	chr14:38707800-38708800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr14:38708000-38708200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:38708000-38708400	Enhancers	HSMM	muscle
26	chr14:38708000-38708400	Active TSS	HSMMtube	muscle
27	chr14:38708200-38708400	Enhancers	HUVEC	blood vessel
28	chr14:38708400-38708800	Enhancers	HSMMtube	muscle
29	chr14:38708400-38716200	Weak transcription	HUVEC	blood vessel
30	chr14:38715000-38719000	Weak transcription	Lung	lung
31	chr14:38716200-38718400	Genic enhancers	HUVEC	blood vessel
32	chr14:38716400-38716800	Enhancers	Left Ventricle	heart
33	chr14:38716600-38716800	Enhancers	Pancreas	Pancrea
34	chr14:38716600-38716800	Enhancers	Right Atrium	heart
35	chr14:38716800-38719000	Weak transcription	Left Ventricle	heart
36	chr14:38717400-38726200	Active TSS	Right Atrium	heart
37	chr14:38718000-38718600	Enhancers	Adipose Nuclei	Adipose
38	chr14:38718400-38718600	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr14:38718400-38722000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
40	chr14:38718600-38718800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr14:38718600-38719000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:38718800-38719200	Active TSS	Right Ventricle	heart
43	chr14:38718800-38723800	Active TSS	Adipose Nuclei	Adipose
44	chr14:38719000-38719400	Active TSS	Lung	lung
45	chr14:38719000-38719600	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr14:38719000-38720400	Active TSS	Left Ventricle	heart
47	chr14:38719200-38720000	Weak transcription	Right Ventricle	heart
48	chr14:38719200-38723800	Active TSS	Psoas Muscle	Psoas
49	chr14:38719400-38722400	Weak transcription	Lung	lung
50	chr14:38719600-38720000	Enhancers	Muscle Satellite Cultured Cells	--

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