Variant report

Variant	nsv564059
Chromosome Location	chr14:24776401-24796813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1226)
CpG islands
(count:1955)
Chromatin interactive
region (count:40)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1226 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:24784983-24785016	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:24777039-24777664	HepG2	liver:	n/a	n/a
3	ATF2	chr14:24779960-24780363	GM12878	blood:	n/a	n/a
4	ATF2	chr14:24777259-24777715	GM12878	blood:	n/a	n/a
5	BACH1	chr14:24785917-24785970	K562	blood:	n/a	n/a
6	BACH1	chr14:24786387-24786769	K562	blood:	n/a	n/a
7	BCL3	chr14:24786422-24787200	A549	lung:	n/a	n/a
8	BCLAF1	chr14:24779845-24780355	GM12878	blood:	n/a	n/a
9	BHLHE40	chr14:24784770-24785588	HepG2	liver:	n/a	n/a
10	BHLHE40	chr14:24776793-24777630	HepG2	liver:	n/a	n/a
11	BHLHE40	chr14:24785136-24785858	K562	blood:	n/a	n/a
12	BHLHE40	chr14:24786588-24786776	K562	blood:	n/a	n/a
13	BHLHE40	chr14:24779894-24780243	GM12878	blood:	n/a	n/a
14	BHLHE40	chr14:24777276-24777647	GM12878	blood:	n/a	n/a
15	BRCA1	chr14:24777441-24777582	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr14:24781168-24781368	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr14:24776937-24777590	HepG2	liver:	n/a	n/a
18	BRCA1	chr14:24777421-24777475	GM12878	blood:	n/a	n/a
19	BRCA1	chr14:24780021-24780028	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr14:24784878-24784996	HepG2	liver:	n/a	n/a
21	CBX3	chr14:24785340-24785746	K562	blood:	n/a	n/a
22	CCNT2	chr14:24785060-24785896	K562	blood:	n/a	n/a
23	CEBPB	chr14:24784433-24784790	HepG2	liver:	n/a	chr14:24784600-24784613 chr14:24784601-24784612 chr14:24784600-24784611 chr14:24784600-24784611
24	CEBPB	chr14:24781034-24781401	HepG2	liver:	n/a	chr14:24781217-24781228
25	CEBPB	chr14:24781071-24781464	MCF-7	breast:	n/a	chr14:24781217-24781228
26	CEBPB	chr14:24781032-24781414	IMR90	lung:	n/a	chr14:24781217-24781228
27	CEBPB	chr14:24777053-24777544	HepG2	liver:	n/a	n/a
28	CEBPB	chr14:24781068-24781394	A549	lung:	n/a	chr14:24781217-24781228
29	CEBPB	chr14:24781010-24781410	Hela-S3	cervix:	n/a	chr14:24781217-24781228
30	CEBPB	chr14:24781109-24781339	K562	blood:	n/a	chr14:24781217-24781228
31	CEBPB	chr14:24784439-24784779	HepG2	liver:	n/a	chr14:24784600-24784613 chr14:24784601-24784612 chr14:24784600-24784611 chr14:24784600-24784611
32	CEBPB	chr14:24785033-24785161	K562	blood:	n/a	n/a
33	CEBPB	chr14:24784312-24784703	HepG2	liver:	n/a	chr14:24784600-24784613 chr14:24784601-24784612 chr14:24784600-24784611 chr14:24784600-24784611
34	CEBPD	chr14:24776820-24777631	HepG2	liver:	n/a	n/a
35	CEBPD	chr14:24776940-24777406	HepG2	liver:	n/a	n/a
36	CHD1	chr14:24777388-24777479	GM12878	blood:	n/a	n/a
37	CHD2	chr14:24785451-24785651	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr14:24777364-24777888	GM12878	blood:	n/a	n/a
39	CHD2	chr14:24786501-24786579	K562	blood:	n/a	n/a
40	CHD2	chr14:24785588-24785687	K562	blood:	n/a	n/a
41	CHD2	chr14:24776991-24777659	HepG2	liver:	n/a	n/a
42	CHD2	chr14:24785103-24785208	K562	blood:	n/a	n/a
43	CHD2	chr14:24780379-24780469	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr14:24785096-24785617	HepG2	liver:	n/a	n/a
45	CHD2	chr14:24777577-24777769	K562	blood:	n/a	n/a
46	CHD2	chr14:24784643-24784671	HepG2	liver:	n/a	n/a
47	CHD2	chr14:24779921-24780035	GM12878	blood:	n/a	n/a
48	CTCF	chr14:24780220-24780370	NHDF-neo	bronchial:	n/a	n/a
49	CTCF	chr14:24780573-24780582	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr14:24785440-24785590	HRE	kidney:	n/a	n/a

(count:1955 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24780551-24780601	GM12878	blood:	n/a
2	chr14:24777803-24777853	Caco-2	colon:	n/a
3	chr14:24785847-24785897	NT2-D1	testis:	n/a
4	chr14:24780551-24780601	GM12878	blood:	n/a
5	chr14:24777803-24777853	Caco-2	colon:	n/a
6	chr14:24785847-24785897	NT2-D1	testis:	n/a
7	chr14:24780551-24780601	BE2_C	brain:	n/a
8	chr14:24780890-24780940	HepG2	liver:	n/a
9	chr14:24792081-24792131	A549	lung:	n/a
10	chr14:24780682-24780732	HNPCEpiC	eye:	n/a
11	chr14:24780691-24780741	MCF-7	breast:	n/a
12	chr14:24789158-24789208	K562	blood:	n/a
13	chr14:24791720-24791770	HPAEpiC	pulmonary alveolar:	n/a
14	chr14:24780540-24780590	H1-hESC	embryonic stem cell:	embryo
15	chr14:24780540-24780590	SK-N-SH_RA	brain:	n/a
16	chr14:24787611-24787661	AG10803	skin:	n/a
17	chr14:24780557-24780607	GM12878	blood:	n/a
18	chr14:24791720-24791770	AG04449	skin:	fetal
19	chr14:24777910-24777960	AG09319	gingival:	n/a
20	chr14:24780557-24780607	BE2_C	brain:	n/a
21	chr14:24778279-24778329	U87	brain:	n/a
22	chr14:24780734-24780784	AG09319	gingival:	n/a
23	chr14:24777708-24777758	HNPCEpiC	eye:	n/a
24	chr14:24780682-24780732	HEEpiC	esophagus:	n/a
25	chr14:24785488-24785538	AG09319	gingival:	n/a
26	chr14:24780825-24780875	HAEpiC	amniotic membrane:	n/a
27	chr14:24785847-24785897	T-47D	breast:	n/a
28	chr14:24780167-24780217	BJ	skin:	n/a
29	chr14:24787611-24787661	Caco-2	colon:	n/a
30	chr14:24785488-24785538	HAEpiC	amniotic membrane:	n/a
31	chr14:24780926-24780976	HEK293	kidney:	embryo
32	chr14:24776700-24776750	SAEC	small airway:	n/a
33	chr14:24779400-24779450	LNCaP	prostate:	n/a
34	chr14:24781937-24781987	SAEC	small airway:	n/a
35	chr14:24780404-24780454	SK-N-SH_RA	brain:	n/a
36	chr14:24777878-24777928	HRPEpiC	eye:	n/a
37	chr14:24780926-24780976	IMR90	lung:	fetal
38	chr14:24780557-24780607	NB4	blood:	n/a
39	chr14:24778279-24778329	HCT-116	colon:	n/a
40	chr14:24779400-24779450	AG09309	skin:	n/a
41	chr14:24791720-24791770	SK-N-MC	brain:	n/a
42	chr14:24781937-24781987	HCF	heart:	n/a
43	chr14:24780682-24780732	Hepatocyte	liver:	n/a
44	chr14:24780890-24780940	A549	lung:	n/a
45	chr14:24780404-24780454	HepG2	liver:	n/a
46	chr14:24781937-24781987	AoSMC	blood vessel:	n/a
47	chr14:24780682-24780732	H1-hESC	embryonic stem cell:	embryo
48	chr14:24780825-24780875	GM12891	blood:	n/a
49	chr14:24777878-24777928	ECC-1	luminal epithelium:	n/a
50	chr14:24781937-24781987	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr14:24783396..24785005-chr14:24908424..24911111,2	K562	blood:
2	chr14:24784144..24786069-chr14:24899565..24901293,2	K562	blood:
3	chr14:24779448..24783163-chr14:24897934..24900807,3	MCF-7	breast:
4	chr14:24682923..24685133-chr14:24776691..24778395,2	MCF-7	breast:
5	chr14:24781177..24783367-chr14:24784569..24786396,2	K562	blood:
6	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
7	chr14:24654479..24657858-chr14:24783212..24786979,3	K562	blood:
8	chr14:24774171..24777503-chr14:24780795..24784046,4	K562	blood:
9	chr14:24778484..24781723-chr14:24903121..24905574,3	MCF-7	breast:
10	chr14:24778683..24780646-chr14:24900996..24904566,3	K562	blood:
11	chr14:24681591..24684402-chr14:24776273..24778851,2	K562	blood:
12	chr14:24796718..24800207-chr14:24803965..24807105,3	MCF-7	breast:
13	chr14:24767930..24771021-chr14:24792565..24795803,5	MCF-7	breast:
14	chr14:24700462..24703235-chr14:24790000..24792111,3	MCF-7	breast:
15	chr14:24684779..24685489-chr14:24777283..24777942,2	MCF-7	breast:
16	chr14:24784156..24786411-chr14:24902043..24903972,2	MCF-7	breast:
17	chr14:24790689..24792926-chr14:24801432..24803084,2	MCF-7	breast:
18	chr14:24711592..24713123-chr14:24785220..24787593,2	K562	blood:
19	chr14:24768588..24770601-chr14:24787605..24789791,2	MCF-7	breast:
20	chr14:24775299..24777826-chr14:24904340..24907258,3	MCF-7	breast:
21	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
22	chr14:24774171..24777503-chr14:24780795..24784046,4	K562	blood:
23	chr14:24765570..24768951-chr14:24773362..24777339,4	K562	blood:
24	chr14:24791657..24793644-chr14:24793834..24797111,3	MCF-7	breast:
25	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
26	chr14:24791657..24793644-chr14:24793834..24797111,3	MCF-7	breast:
27	chr14:24610521..24612373-chr14:24774882..24776542,2	K562	blood:
28	chr14:24796459..24799989-chr14:24897944..24901736,5	K562	blood:
29	chr14:24710493..24713129-chr14:24782481..24785147,3	K562	blood:
30	chr14:24787037..24788840-chr14:24897409..24899159,2	K562	blood:
31	chr14:24785903..24787847-chr14:24833580..24835158,2	MCF-7	breast:
32	chr14:24796552..24799266-chr14:24908909..24911628,3	K562	blood:
33	chr14:24605250..24607686-chr14:24782564..24785003,2	K562	blood:
34	chr14:24710202..24713274-chr14:24777163..24780691,4	K562	blood:
35	chr14:24737357..24740167-chr14:24791316..24793649,2	MCF-7	breast:
36	chr14:24767097..24775014-chr14:24779936..24787049,14	MCF-7	breast:
37	chr14:24769018..24771644-chr14:24778129..24781269,3	K562	blood:
38	chr14:24785563..24788287-chr14:24805710..24808640,2	MCF-7	breast:
39	chr14:24786484..24789445-chr14:24867448..24869110,2	K562	blood:
40	chr14:24794139..24796164-chr14:24797754..24799865,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADCY4-3	chr14:24779293-24779754	NONHSAT036045
2	lnc-ADCY4-3	chr14:24779855-24779924	NONHSAT036045

No data

Variant related genes	Relation type
ENSG00000272658	TF binding region
ADCY4	TF binding region
LTB4R	TF binding region
CIDEB	TF binding region
LTB4R2	TF binding region
ENSG00000272658	CpG island
ADCY4	CpG island
LTB4R	CpG island
CIDEB	CpG island
LTB4R2	CpG island
ENSG00000100938	chromatin interactions
ENSG00000100968	chromatin interactions
ENSG00000100445	chromatin interactions
ENSG00000196943	chromatin interactions
ENSG00000129467	chromatin interactions
ENSG00000100949	chromatin interactions
ENSG00000258973	chromatin interactions
ENSG00000136305	chromatin interactions
ENSG00000196497	chromatin interactions
ENSG00000260669	chromatin interactions
ENSG00000100441	chromatin interactions
ENSG00000254505	chromatin interactions
ENSG00000213920	chromatin interactions
ENSG00000129465	chromatin interactions
ENSG00000255526	chromatin interactions
ENSG00000129559	chromatin interactions
ENSG00000205978	chromatin interactions
ENSG00000254692	chromatin interactions
ENSG00000139899	chromatin interactions
ENSG00000213906	chromatin interactions
ENSG00000213903	chromatin interactions
ENSG00000092330	chromatin interactions
ENSG00000092010	chromatin interactions
ENSG00000157379	chromatin interactions
ENSG00000100908	chromatin interactions

Extended variants
information (count: 924 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:924 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1053649	chr14:24776401-24776402	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571955853	chr14:24776415-24776416	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs534512074	chr14:24776424-24776425	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs191717119	chr14:24776440-24776441	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs11158634	chr14:24776457-24776458	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs184560431	chr14:24776467-24776468	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs562771901	chr14:24776532-24776533	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs576468649	chr14:24776546-24776547	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs201256449	chr14:24776556-24776557	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs376584619	chr14:24776557-24776558	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs369493334	chr14:24776559-24776560	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs562266546	chr14:24776566-24776567	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs138292688	chr14:24776591-24776592	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs372931926	chr14:24776608-24776609	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs141301146	chr14:24776617-24776618	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs374893875	chr14:24776629-24776630	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs368997599	chr14:24776630-24776631	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs372963517	chr14:24776647-24776648	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs376969667	chr14:24776648-24776649	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs373402348	chr14:24776653-24776654	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs144947876	chr14:24776654-24776655	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs148297663	chr14:24776656-24776657	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs534959384	chr14:24776660-24776661	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs377687126	chr14:24776676-24776677	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs375310375	chr14:24776684-24776685	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs141428372	chr14:24776689-24776690	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs150899829	chr14:24776690-24776691	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs61737107	chr14:24776721-24776722	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs201740946	chr14:24776739-24776740	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs369091366	chr14:24776748-24776749	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs11158635	chr14:24776769-24776770	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs568289648	chr14:24776861-24776862	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs75930280	chr14:24776870-24776871	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs565446861	chr14:24776875-24776876	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs369429042	chr14:24776904-24776905	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
36	rs113632442	chr14:24776919-24776920	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs534476366	chr14:24776958-24776959	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs557690407	chr14:24776961-24776962	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs36114269	chr14:24776993-24776994	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs142496946	chr14:24777000-24777001	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs189519586	chr14:24777004-24777005	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs146748676	chr14:24777006-24777007	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs542250063	chr14:24777030-24777031	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs534112642	chr14:24777041-24777042	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs562127864	chr14:24777072-24777073	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs202014197	chr14:24777073-24777074	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs370279393	chr14:24777090-24777091	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs138916669	chr14:24777120-24777121	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs80170253	chr14:24777142-24777143	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs368838194	chr14:24777149-24777150	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1169 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24770200-24777000	Strong transcription	Primary T cells fromperipheralblood	blood
2	chr14:24770200-24778600	Strong transcription	Fetal Stomach	stomach
3	chr14:24770200-24779400	Weak transcription	Right Atrium	heart
4	chr14:24770400-24777000	Strong transcription	Brain Cingulate Gyrus	brain
5	chr14:24770400-24778800	Weak transcription	Fetal Heart	heart
6	chr14:24770400-24782000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:24770600-24776600	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr14:24770600-24776600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:24770600-24776600	Strong transcription	Duodenum Smooth Muscle	Duodenum
10	chr14:24770600-24776800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:24770600-24776800	Strong transcription	Brain Germinal Matrix	brain
12	chr14:24770600-24777000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:24770600-24777000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr14:24770600-24777000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:24770600-24777000	Strong transcription	Ovary	ovary
16	chr14:24770600-24777000	Strong transcription	HMEC	breast
17	chr14:24770600-24777200	Strong transcription	Brain Hippocampus Middle	brain
18	chr14:24770600-24777200	Strong transcription	Fetal Muscle Leg	muscle
19	chr14:24770600-24777400	Strong transcription	Colon Smooth Muscle	Colon
20	chr14:24770600-24778000	Strong transcription	Thymus	Thymus
21	chr14:24770600-24781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:24770600-24781800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:24770800-24776600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:24770800-24776600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:24770800-24776600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:24770800-24776600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:24770800-24776600	Strong transcription	Brain Anterior Caudate	brain
28	chr14:24770800-24776600	Strong transcription	Left Ventricle	heart
29	chr14:24770800-24776800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr14:24770800-24776800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:24770800-24776800	Strong transcription	Brain Angular Gyrus	brain
32	chr14:24770800-24776800	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr14:24770800-24776800	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:24770800-24777000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:24770800-24777000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:24770800-24777000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr14:24770800-24777000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr14:24770800-24777000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:24770800-24777000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:24770800-24777000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:24770800-24777000	Strong transcription	Adipose Nuclei	Adipose
42	chr14:24770800-24777000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr14:24770800-24777200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:24770800-24777200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr14:24770800-24777200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:24770800-24777200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:24770800-24777200	Strong transcription	Right Ventricle	heart
48	chr14:24770800-24777800	Strong transcription	Esophagus	oesophagus
49	chr14:24770800-24779000	Strong transcription	NHLF	lung
50	chr14:24770800-24779200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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