Variant report

Variant	esv3421474
Chromosome Location	chr14:105485932-105488480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:942)
CpG islands
(count:732)
Chromatin interactive
region (count:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:942 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:105487292-105487482	HepG2	liver:	n/a	n/a
2	ATF2	chr14:105487644-105488036	GM12878	blood:	n/a	n/a
3	ATF3	chr14:105487655-105487875	H1-hESC	embryonic stem cell:	n/a	chr14:105487704-105487713 chr14:105487687-105487696
4	ATF3	chr14:105487624-105487885	H1-hESC	embryonic stem cell:	n/a	chr14:105487704-105487713 chr14:105487687-105487696
5	ATF3	chr14:105487590-105487993	GM12878	blood:	n/a	chr14:105487610-105487619 chr14:105487704-105487713 chr14:105487687-105487696
6	ATF3	chr14:105487600-105487891	K562	blood:	n/a	chr14:105487610-105487619 chr14:105487704-105487713 chr14:105487687-105487696
7	ATF3	chr14:105487653-105487840	GM12878	blood:	n/a	chr14:105487704-105487713 chr14:105487687-105487696
8	ATF3	chr14:105487578-105487932	HepG2	liver:	n/a	chr14:105487610-105487619 chr14:105487704-105487713 chr14:105487687-105487696
9	ATF3	chr14:105487634-105487983	HepG2	liver:	n/a	chr14:105487704-105487713 chr14:105487687-105487696
10	BACH1	chr14:105486695-105488358	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL3	chr14:105487111-105487623	GM12878	blood:	n/a	chr14:105487134-105487147 chr14:105487176-105487189 chr14:105487267-105487276 chr14:105487211-105487220 chr14:105487182-105487195 chr14:105487521-105487534 chr14:105487181-105487194
12	BCL3	chr14:105487816-105488442	A549	lung:	n/a	n/a
13	BCL3	chr14:105487663-105488547	A549	lung:	n/a	n/a
14	BCLAF1	chr14:105487656-105488131	GM12878	blood:	n/a	n/a
15	BCLAF1	chr14:105486512-105487013	GM12878	blood:	n/a	chr14:105486806-105486815 chr14:105486988-105487001 chr14:105486955-105486964 chr14:105486907-105486920
16	BCLAF1	chr14:105487706-105488440	GM12878	blood:	n/a	n/a
17	BHLHE40	chr14:105486571-105488413	GM12878	blood:	n/a	chr14:105488088-105488104 chr14:105487126-105487142 chr14:105487118-105487134
18	BHLHE40	chr14:105487812-105488365	K562	blood:	n/a	chr14:105488088-105488104
19	BHLHE40	chr14:105486069-105486185	GM12878	blood:	n/a	n/a
20	BHLHE40	chr14:105487234-105487509	K562	blood:	n/a	n/a
21	BHLHE40	chr14:105487245-105488012	HepG2	liver:	n/a	n/a
22	BRCA1	chr14:105488076-105488203	HepG2	liver:	n/a	n/a
23	BRCA1	chr14:105487387-105488446	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr14:105487418-105487502	H1-hESC	embryonic stem cell:	n/a	n/a
25	CCNT2	chr14:105486853-105487928	K562	blood:	n/a	chr14:105487525-105487534
26	CEBPB	chr14:105487111-105488368	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr14:105487709-105488494	GM12878	blood:	n/a	n/a
28	CEBPD	chr14:105487196-105487494	HepG2	liver:	n/a	n/a
29	CEBPD	chr14:105487558-105488256	HepG2	liver:	n/a	n/a
30	CHD1	chr14:105486796-105486820	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD1	chr14:105487251-105487290	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD1	chr14:105486375-105487026	GM12878	blood:	n/a	n/a
33	CHD1	chr14:105487728-105488379	GM12878	blood:	n/a	n/a
34	CHD2	chr14:105488064-105488336	HepG2	liver:	n/a	n/a
35	CHD2	chr14:105487829-105488299	K562	blood:	n/a	n/a
36	CHD2	chr14:105487408-105487597	HepG2	liver:	n/a	chr14:105487433-105487443 chr14:105487428-105487438
37	CHD2	chr14:105486757-105486816	K562	blood:	n/a	n/a
38	CHD2	chr14:105487279-105488393	H1-hESC	embryonic stem cell:	n/a	chr14:105487685-105487695 chr14:105487433-105487443 chr14:105487428-105487438
39	CHD2	chr14:105487270-105488366	Hela-S3	cervix:	n/a	chr14:105487685-105487695 chr14:105487433-105487443 chr14:105487428-105487438
40	CHD2	chr14:105487254-105487625	K562	blood:	n/a	chr14:105487433-105487443 chr14:105487428-105487438
41	CHD2	chr14:105487113-105488378	GM12878	blood:	n/a	chr14:105487685-105487695 chr14:105487433-105487443 chr14:105487428-105487438
42	CREB1	chr14:105487242-105487608	A549	lung:	n/a	n/a
43	CREB1	chr14:105487183-105487795	HepG2	liver:	n/a	n/a
44	CREB1	chr14:105487999-105488407	A549	lung:	n/a	n/a
45	CREB1	chr14:105487228-105487771	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr14:105487955-105488437	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr14:105487234-105487834	H1-hESC	embryonic stem cell:	n/a	n/a
48	CREB1	chr14:105486777-105488507	HepG2	liver:	n/a	n/a
49	CREB1	chr14:105487385-105487914	ECC-1	luminal epithelium:	n/a	n/a
50	CREB1	chr14:105487206-105487796	K562	blood:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105487615-105487665	SK-N-SH_RA	brain:	n/a
2	chr14:105487825-105487875	PANC-1	pancreas:	n/a
3	chr14:105486648-105486698	HMEC	breast:	n/a
4	chr14:105486648-105486698	RPTEC	kidney:	n/a
5	chr14:105487825-105487875	HL-60	blood:	n/a
6	chr14:105487248-105487298	NB4	blood:	n/a
7	chr14:105487215-105487265	MCF-7	breast:	n/a
8	chr14:105487648-105487698	BE2_C	brain:	n/a
9	chr14:105487215-105487265	SK-N-SH_RA	brain:	n/a
10	chr14:105487229-105487279	AG04449	skin:	fetal
11	chr14:105487229-105487279	ECC-1	luminal epithelium:	n/a
12	chr14:105487572-105487622	ProgFib	skin:	n/a
13	chr14:105486648-105486698	ECC-1	luminal epithelium:	n/a
14	chr14:105486781-105486831	HRPEpiC	eye:	n/a
15	chr14:105487825-105487875	HRE	kidney:	n/a
16	chr14:105486648-105486698	HEEpiC	esophagus:	n/a
17	chr14:105486781-105486831	HL-60	blood:	n/a
18	chr14:105487215-105487265	ECC-1	luminal epithelium:	n/a
19	chr14:105486781-105486831	HPAEpiC	pulmonary alveolar:	n/a
20	chr14:105487248-105487298	HepG2	liver:	n/a
21	chr14:105488115-105488165	HPAEpiC	pulmonary alveolar:	n/a
22	chr14:105486781-105486831	HCT-116	colon:	n/a
23	chr14:105488115-105488165	HCT-116	colon:	n/a
24	chr14:105487615-105487665	Hela-S3	cervix:	n/a
25	chr14:105487648-105487698	AG04449	skin:	fetal
26	chr14:105487248-105487298	GM12891	blood:	n/a
27	chr14:105487229-105487279	HRCEpiC	kidney:	n/a
28	chr14:105487914-105487964	Hela-S3	cervix:	n/a
29	chr14:105487825-105487875	HMEC	breast:	n/a
30	chr14:105487572-105487622	AG10803	skin:	n/a
31	chr14:105487648-105487698	ProgFib	skin:	n/a
32	chr14:105487572-105487622	Caco-2	colon:	n/a
33	chr14:105488366-105488416	LNCaP	prostate:	n/a
34	chr14:105487215-105487265	HRPEpiC	eye:	n/a
35	chr14:105487648-105487698	SK-N-SH_RA	brain:	n/a
36	chr14:105487914-105487964	SK-N-MC	brain:	n/a
37	chr14:105486648-105486698	HCPEpiC	choroid plexus:	n/a
38	chr14:105487914-105487964	GM12892	blood:	n/a
39	chr14:105487215-105487265	AG09309	skin:	n/a
40	chr14:105487825-105487875	HPAEpiC	pulmonary alveolar:	n/a
41	chr14:105487215-105487265	NT2-D1	testis:	n/a
42	chr14:105487615-105487665	HNPCEpiC	eye:	n/a
43	chr14:105487914-105487964	HAEpiC	amniotic membrane:	n/a
44	chr14:105487648-105487698	GM19239	blood:	n/a
45	chr14:105487825-105487875	MCF10A-Er-Src	breast:	n/a
46	chr14:105487615-105487665	GM12891	blood:	n/a
47	chr14:105487215-105487265	HCT-116	colon:	n/a
48	chr14:105486648-105486698	SKMC	muscle:	n/a
49	chr14:105487825-105487875	ovcar-3	ovarian:	n/a
50	chr14:105487648-105487698	HL-60	blood:	n/a

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105452399..105454814-chr14:105486903..105489011,2	K562	blood:
2	chr14:105487034..105487793-chr5:40834950..40835755,2	Hela-S3	cervix:
3	chr14:105468423..105470869-chr14:105484472..105486561,2	MCF-7	breast:
4	chr14:105448840..105458160-chr14:105477229..105492100,32	MCF-7	breast:
5	chr14:105433937..105458439-chr14:105476653..105492775,70	MCF-7	breast:
6	chr14:105486497..105489125-chr17:57923024..57925819,2	MCF-7	breast:
7	chr14:105266268..105268334-chr14:105486957..105488737,2	K562	blood:
8	chr14:105487916..105489481-chr16:89626019..89628336,2	MCF-7	breast:
9	chr13:30994882..30996624-chr14:105486815..105488423,2	MCF-7	breast:
10	chr11:61099687..61101832-chr14:105486537..105488632,2	MCF-7	breast:
11	chr14:91719454..91721196-chr14:105485450..105487377,2	MCF-7	breast:
12	chr14:105486868..105487849-chr5:32174032..32174786,2	Hela-S3	cervix:
13	chr14:105331438..105333394-chr14:105486290..105488258,2	MCF-7	breast:
14	chr14:105359659..105361508-chr14:105484328..105487117,2	MCF-7	breast:
15	chr14:105487526..105488276-chr19:2476312..2477221,2	HCT-116	colon:
16	chr14:105486865..105487846-chr3:33481300..33482173,3	Hela-S3	cervix:
17	chr14:105486767..105487298-chr2:101618521..101619073,2	Hela-S3	cervix:
18	chr14:105444693..105446444-chr14:105485592..105488194,3	K562	blood:
19	chr11:62609033..62609780-chr14:105486942..105487714,2	Hela-S3	cervix:
20	chr14:105487927..105490765-chr17:57920099..57922115,2	MCF-7	breast:
21	chr1:32478407..32481120-chr14:105486396..105489029,2	MCF-7	breast:
22	chr14:105452399..105454972-chr14:105485871..105488403,3	K562	blood:
23	chr14:105485865..105488702-chr14:105521834..105523359,2	K562	blood:
24	chr14:105488161..105488707-chr14:105511957..105512657,2	MCF-7	breast:
25	chr14:105488320..105490306-chr14:105542807..105544380,2	MCF-7	breast:
26	chr14:105486883..105487875-chr22:20003789..20004397,2	NB4	blood:
27	chr14:105487513..105488363-chr7:44836077..44836628,2	HCT-116	colon:
28	chr14:105486934..105489265-chr14:106372865..106374868,2	MCF-7	breast:
29	chr14:105486634..105487135-chr2:241499645..241500593,2	Hela-S3	cervix:
30	chr14:105346758..105349135-chr14:105488164..105490065,2	MCF-7	breast:
31	chr14:105487778..105490193-chr14:105767272..105770165,2	MCF-7	breast:
32	chr12:133287331..133288118-chr14:105487145..105487714,2	Hela-S3	cervix:
33	chr14:105436785..105438892-chr14:105486187..105488298,2	MCF-7	breast:
34	chr14:105440890..105445623-chr14:105485614..105489562,6	MCF-7	breast:
35	chr14:105329781..105332832-chr14:105486734..105489071,3	MCF-7	breast:
36	chr14:105231590..105234247-chr14:105484637..105486265,2	K562	blood:
37	chr14:105433505..105435724-chr14:105485407..105487302,3	MCF-7	breast:
38	chr14:105486944..105489300-chr14:105953502..105956286,2	MCF-7	breast:
39	chr14:105487751..105489658-chr14:105685991..105688181,2	MCF-7	breast:
40	chr14:105487558..105490083-chr14:105516106..105518275,3	MCF-7	breast:

No data

Variant related genes	Relation type
CDCA4	TF binding region
CDCA4	CpG island
ENSG00000071082	chromatin interactions
ENSG00000188542	chromatin interactions
ENSG00000211925	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000200084	chromatin interactions
ENSG00000223947	chromatin interactions
ENSG00000099889	chromatin interactions
ENSG00000119714	chromatin interactions
ENSG00000167526	chromatin interactions
ENSG00000225039	chromatin interactions
ENSG00000121774	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000140104	chromatin interactions
ENSG00000149476	chromatin interactions
ENSG00000113384	chromatin interactions
ENSG00000099860	chromatin interactions
ENSG00000272086	chromatin interactions
ENSG00000183484	chromatin interactions
ENSG00000167986	chromatin interactions
ENSG00000144504	chromatin interactions
ENSG00000145592	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000185347	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000185024	chromatin interactions
ENSG00000257341	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000153560	chromatin interactions
ENSG00000213145	chromatin interactions
ENSG00000247077	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74090193	chr14:105485944-105485945	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560797345	chr14:105485972-105485973	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs537380899	chr14:105486008-105486009	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs191021574	chr14:105486048-105486049	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs200047183	chr14:105486050-105486051	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs370785211	chr14:105486051-105486052	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs550341175	chr14:105486056-105486057	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs12878261	chr14:105486060-105486061	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs374164629	chr14:105486080-105486081	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs532077932	chr14:105486112-105486113	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs144758786	chr14:105486118-105486119	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs151086123	chr14:105486119-105486120	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs34470099	chr14:105486120-105486121	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs58084255	chr14:105486121-105486122	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs9652406	chr14:105486138-105486139	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11848239	chr14:105486157-105486158	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs537742351	chr14:105486159-105486160	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs534474473	chr14:105486200-105486201	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs551291800	chr14:105486253-105486254	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs9652309	chr14:105486280-105486281	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs550710744	chr14:105486296-105486297	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs536820806	chr14:105486301-105486302	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs367799734	chr14:105486322-105486323	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs553264539	chr14:105486328-105486329	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs137974789	chr14:105486356-105486357	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs538720291	chr14:105486370-105486371	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs558916822	chr14:105486372-105486373	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs575233108	chr14:105486389-105486390	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs368280247	chr14:105486398-105486399	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs571441374	chr14:105486441-105486442	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs149462833	chr14:105486483-105486484	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs577443256	chr14:105486493-105486494	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs143001820	chr14:105486499-105486500	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs538708506	chr14:105486509-105486510	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs10143367	chr14:105486513-105486514	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs540442112	chr14:105486542-105486543	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs111573891	chr14:105486544-105486545	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs35825037	chr14:105486566-105486567	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs532243636	chr14:105486574-105486575	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs113767999	chr14:105486575-105486576	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs562515216	chr14:105486660-105486661	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs8008615	chr14:105486729-105486730	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs551326309	chr14:105486735-105486736	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs567983421	chr14:105486741-105486742	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs10162501	chr14:105486749-105486750	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs187903600	chr14:105486750-105486751	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs544565164	chr14:105486751-105486752	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs8008344	chr14:105486758-105486759	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs539171998	chr14:105486773-105486774	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs77066495	chr14:105486842-105486843	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105473800-105486600	Weak transcription	Aorta	Aorta
2	chr14:105478200-105486200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:105478400-105486200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:105478400-105486200	Weak transcription	Lung	lung
5	chr14:105478400-105486400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:105479600-105486200	Weak transcription	Left Ventricle	heart
7	chr14:105481400-105486400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:105482000-105486200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:105483000-105486200	Enhancers	Placenta	Placenta
10	chr14:105484000-105487200	Transcr. at gene 5' and 3'	Dnd41	blood
11	chr14:105484200-105486200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:105484200-105486800	Transcr. at gene 5' and 3'	NHEK	skin
13	chr14:105484400-105486200	Enhancers	Primary B cells from peripheral blood	blood
14	chr14:105484400-105486200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:105484400-105486400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr14:105484400-105486400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr14:105484400-105486800	Transcr. at gene 5' and 3'	A549	lung
18	chr14:105484600-105486400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:105484800-105486000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:105484800-105486000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:105484800-105486000	Enhancers	Fetal Brain Male	brain
22	chr14:105484800-105486000	Flanking Active TSS	HepG2	liver
23	chr14:105484800-105486200	Enhancers	Right Ventricle	heart
24	chr14:105484800-105486200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr14:105484800-105486400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr14:105484800-105486400	Enhancers	Primary B cells from cord blood	blood
27	chr14:105485000-105486200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr14:105485200-105486600	Transcr. at gene 5' and 3'	K562	blood
29	chr14:105485400-105486000	Transcr. at gene 5' and 3'	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:105485400-105486000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr14:105485400-105486000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:105485400-105486000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:105485400-105486000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
34	chr14:105485400-105486000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr14:105485400-105486000	Transcr. at gene 5' and 3'	HMEC	breast
36	chr14:105485400-105486000	Flanking Active TSS	NHDF-Ad	bronchial
37	chr14:105485400-105486200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr14:105485400-105486200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr14:105485400-105486200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:105485400-105486200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
41	chr14:105485400-105486200	Enhancers	Gastric	stomach
42	chr14:105485400-105486200	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr14:105485400-105486200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr14:105485400-105486200	Flanking Active TSS	Hela-S3	cervix
45	chr14:105485400-105486400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr14:105485400-105486400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:105485400-105486400	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr14:105485400-105486400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:105485400-105486400	Enhancers	Brain Hippocampus Middle	brain
50	chr14:105485400-105486400	Enhancers	Pancreas	Pancrea

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