Variant report

Variant	nsv566103
Chromosome Location	chr14:105329758-105331785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:261)
CpG islands
(count:244)
Chromatin interactive
region (count:41)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:105330900-105331164	HepG2	liver:	n/a	n/a
2	ATF2	chr14:105330504-105330952	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr14:105330396-105330696	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr14:105330563-105331036	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr14:105330583-105331276	Hela-S3	cervix:	n/a	n/a
6	CCNT2	chr14:105331578-105332342	K562	blood:	n/a	chr14:105331965-105331974
7	CEBPB	chr14:105330612-105330935	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr14:105330296-105330832	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPD	chr14:105330886-105331250	HepG2	liver:	n/a	n/a
10	CHD1	chr14:105331057-105331245	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr14:105330676-105331003	HepG2	liver:	n/a	n/a
12	CHD2	chr14:105330529-105331615	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr14:105330580-105331038	H1-hESC	embryonic stem cell:	n/a	n/a
14	CREB1	chr14:105331395-105332291	A549	lung:	n/a	n/a
15	CREB1	chr14:105330553-105331043	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr14:105330788-105331287	A549	lung:	n/a	n/a
17	CTBP2	chr14:105330321-105331293	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr14:105331260-105331410	NHEK	skin:	n/a	chr14:105331271-105331284
19	CTCF	chr14:105331200-105331350	HMEC	breast:	n/a	chr14:105331271-105331284
20	CTCF	chr14:105331280-105331430	SAEC	small airway:	n/a	n/a
21	CTCF	chr14:105330660-105330810	HMEC	breast:	n/a	n/a
22	CTCF	chr14:105331140-105331290	MCF-7	breast:	n/a	chr14:105331271-105331284
23	CTCF	chr14:105331293-105331320	H1-hESC	embryonic stem cell:	n/a	n/a
24	E2F4	chr14:105330697-105331053	MCF10A-Er-Src	breast:	n/a	chr14:105330792-105330801
25	E2F6	chr14:105330523-105331203	H1-hESC	embryonic stem cell:	n/a	chr14:105330792-105330801 chr14:105330615-105330625
26	E2F6	chr14:105331330-105331533	K562	blood:	n/a	chr14:105331366-105331376
27	E2F6	chr14:105331034-105331272	K562	blood:	n/a	n/a
28	E2F6	chr14:105331566-105331744	K562	blood:	n/a	n/a
29	E2F6	chr14:105330356-105331384	H1-hESC	embryonic stem cell:	n/a	chr14:105330792-105330801 chr14:105330615-105330625 chr14:105331366-105331376
30	EGR1	chr14:105330527-105330932	ECC-1	luminal epithelium:	n/a	chr14:105330793-105330806 chr14:105330793-105330803 chr14:105330791-105330801
31	EGR1	chr14:105331415-105331522	GM12878	blood:	n/a	n/a
32	EGR1	chr14:105331402-105331670	K562	blood:	n/a	n/a
33	EGR1	chr14:105331379-105331704	K562	blood:	n/a	n/a
34	ELF1	chr14:105330851-105331205	GM12878	blood:	n/a	n/a
35	ELF1	chr14:105330641-105331406	HepG2	liver:	n/a	chr14:105331274-105331286
36	ELF1	chr14:105331015-105331485	K562	blood:	n/a	chr14:105331274-105331286
37	ELF1	chr14:105330871-105331327	HepG2	liver:	n/a	chr14:105331274-105331286
38	ELF1	chr14:105330950-105331331	K562	blood:	n/a	chr14:105331274-105331286
39	ELK1	chr14:105330697-105331188	Hela-S3	cervix:	n/a	n/a
40	ELK4	chr14:105330661-105331214	Hela-S3	cervix:	n/a	n/a
41	EP300	chr14:105330501-105331080	T-47D	breast:	n/a	chr14:105331011-105331027
42	EP300	chr14:105331063-105331194	HepG2	liver:	n/a	n/a
43	EP300	chr14:105330405-105331423	ECC-1	luminal epithelium:	n/a	chr14:105331011-105331027
44	EP300	chr14:105330527-105330948	T-47D	breast:	n/a	n/a
45	FOS	chr14:105330890-105331052	MCF10A-Er-Src	breast:	n/a	n/a
46	FOSL2	chr14:105330916-105331348	HepG2	liver:	n/a	n/a
47	FOXA1	chr14:105330592-105330905	T-47D	breast:	n/a	n/a
48	GABPA	chr14:105330938-105331347	HepG2	liver:	n/a	chr14:105331234-105331243
49	GABPA	chr14:105331387-105331523	HepG2	liver:	n/a	n/a
50	GABPA	chr14:105331379-105331683	HepG2	liver:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105330230-105330280	HNPCEpiC	eye:	n/a
2	chr14:105330648-105330698	ovcar-3	ovarian:	n/a
3	chr14:105330230-105330280	GM12892	blood:	n/a
4	chr14:105330648-105330698	AG10803	skin:	n/a
5	chr14:105330630-105330680	PrEC	prostate:	n/a
6	chr14:105330648-105330698	PANC-1	pancreas:	n/a
7	chr14:105330630-105330680	RPTEC	kidney:	n/a
8	chr14:105330648-105330698	GM12891	blood:	n/a
9	chr14:105331124-105331174	NT2-D1	testis:	n/a
10	chr14:105330648-105330698	BJ	skin:	n/a
11	chr14:105330230-105330280	H1-hESC	embryonic stem cell:	embryo
12	chr14:105330230-105330280	U87	brain:	n/a
13	chr14:105330630-105330680	SK-N-SH_RA	brain:	n/a
14	chr14:105330630-105330680	CMK	blood:	n/a
15	chr14:105330230-105330280	ECC-1	luminal epithelium:	n/a
16	chr14:105330630-105330680	NH-A	brain:	n/a
17	chr14:105330230-105330280	HPAEpiC	pulmonary alveolar:	n/a
18	chr14:105330648-105330698	AG04450	lung:	fetal
19	chr14:105331124-105331174	NHBE	bronchial:	n/a
20	chr14:105330230-105330280	HCF	heart:	n/a
21	chr14:105330648-105330698	Hepatocyte	liver:	n/a
22	chr14:105330230-105330280	HCM	heart:	n/a
23	chr14:105330630-105330680	HRPEpiC	eye:	n/a
24	chr14:105330230-105330280	K562	blood:	n/a
25	chr14:105331124-105331174	MCF-7	breast:	n/a
26	chr14:105330648-105330698	ECC-1	luminal epithelium:	n/a
27	chr14:105331124-105331174	HUVEC	blood vessel:	n/a
28	chr14:105330648-105330698	SKMC	muscle:	n/a
29	chr14:105330230-105330280	AG04450	lung:	fetal
30	chr14:105330630-105330680	SK-N-MC	brain:	n/a
31	chr14:105330630-105330680	SAEC	small airway:	n/a
32	chr14:105331124-105331174	AG10803	skin:	n/a
33	chr14:105330230-105330280	NT2-D1	testis:	n/a
34	chr14:105331124-105331174	GM06990	blood:	n/a
35	chr14:105330230-105330280	SK-N-SH_RA	brain:	n/a
36	chr14:105330630-105330680	HCT-116	colon:	n/a
37	chr14:105331124-105331174	PrEC	prostate:	n/a
38	chr14:105330230-105330280	GM12891	blood:	n/a
39	chr14:105331124-105331174	SAEC	small airway:	n/a
40	chr14:105330648-105330698	HCF	heart:	n/a
41	chr14:105330230-105330280	RPTEC	kidney:	n/a
42	chr14:105330648-105330698	HIPEpiC	eye:	n/a
43	chr14:105331124-105331174	PFSK-1	brain:	n/a
44	chr14:105330230-105330280	HCT-116	colon:	n/a
45	chr14:105330630-105330680	NB4	blood:	n/a
46	chr14:105331124-105331174	IMR90	lung:	fetal
47	chr14:105330648-105330698	BE2_C	brain:	n/a
48	chr14:105330230-105330280	HMEC	breast:	n/a
49	chr14:105330648-105330698	HPAEpiC	pulmonary alveolar:	n/a
50	chr14:105330648-105330698	SK-N-SH	brain:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105331357..105331974-chr16:475636..476384,2	Hela-S3	cervix:
2	chr14:105218520..105220093-chr14:105330553..105332132,2	K562	blood:
3	chr14:105189491..105192321-chr14:105330355..105333549,3	MCF-7	breast:
4	chr14:105329803..105331498-chr14:105500045..105502562,2	MCF-7	breast:
5	chr14:105189587..105192281-chr14:105330727..105332921,2	MCF-7	breast:
6	chr14:105265912..105268902-chr14:105329301..105333250,7	MCF-7	breast:
7	chr14:105218737..105221632-chr14:105330382..105333808,5	MCF-7	breast:
8	chr14:105261442..105265036-chr14:105329931..105332556,6	MCF-7	breast:
9	chr14:105329238..105330750-chr14:105398198..105400578,2	MCF-7	breast:
10	chr14:105308114..105313218-chr14:105327481..105332918,6	MCF-7	breast:
11	chr14:105239791..105242217-chr14:105329726..105333005,4	MCF-7	breast:
12	chr14:105250763..105252757-chr14:105330393..105333309,2	K562	blood:
13	chr14:105256932..105260148-chr14:105329998..105332768,3	MCF-7	breast:
14	chr14:105331442..105333912-chr14:105397463..105399152,2	MCF-7	breast:
15	chr14:105277673..105279757-chr14:105329358..105331314,2	K562	blood:
16	chr14:105155136..105157307-chr14:105329558..105331716,2	MCF-7	breast:
17	chr14:105265888..105268831-chr14:105329056..105330600,3	MCF-7	breast:
18	chr14:105260251..105263637-chr14:105331262..105334523,4	K562	blood:
19	chr14:105265825..105268360-chr14:105330933..105332611,2	K562	blood:
20	chr14:105329992..105332567-chr14:105443160..105445644,3	MCF-7	breast:
21	chr14:104583302..104584888-chr14:105330259..105333075,2	MCF-7	breast:
22	chr14:105330948..105331645-chr9:124131985..124132887,2	Hela-S3	cervix:
23	chr14:105331349..105332321-chr7:72971566..72972148,2	Hela-S3	cervix:
24	chr14:105219309..105221110-chr14:105331526..105333449,2	MCF-7	breast:
25	chr14:105207480..105209427-chr14:105330938..105333680,2	K562	blood:
26	chr14:105331021..105331595-chr8:37962974..37963518,2	Hela-S3	cervix:
27	chr14:105330970..105331563-chr21:34143926..34144520,2	Hela-S3	cervix:
28	chr14:105218593..105220961-chr14:105330031..105332053,2	K562	blood:
29	chr14:105330661..105332395-chr14:105435326..105436995,2	MCF-7	breast:
30	chr14:105285820..105287586-chr14:105330282..105332678,2	MCF-7	breast:
31	chr14:105319643..105321546-chr14:105328371..105330492,2	K562	blood:
32	chr14:105329781..105332832-chr14:105486734..105489071,3	MCF-7	breast:
33	chr14:105260375..105263562-chr14:105329763..105332955,5	MCF-7	breast:
34	chr14:105331733..105332483-chr22:46692142..46692982,2	Hela-S3	cervix:
35	chr14:105330633..105331476-chr3:169482551..169483332,2	Hela-S3	cervix:
36	chr14:105331438..105333394-chr14:105486290..105488258,2	MCF-7	breast:
37	chr14:105287373..105290281-chr14:105329548..105332218,5	MCF-7	breast:
38	chr14:105330664..105331320-chr2:28616333..28616909,2	Hela-S3	cervix:
39	chr14:105325199..105327039-chr14:105327761..105330678,2	K562	blood:
40	chr14:105330324..105332130-chr14:105360208..105362418,2	MCF-7	breast:
41	chr14:105330034..105333542-chr14:105435222..105437371,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKT1-4	chr14:105329920-105330291	NONHSAT040302
2	lnc-AKT1-4	chr14:105331110-105331392	NONHSAT040302

No data

Variant related genes	Relation type
ENSG00000258593	TF binding region
CEP170B	TF binding region
ENSG00000258593	CpG island
CEP170B	CpG island
ENSG00000142208	chromatin interactions
ENSG00000090565	chromatin interactions
ENSG00000185100	chromatin interactions
ENSG00000258811	chromatin interactions
ENSG00000075218	chromatin interactions
ENSG00000170779	chromatin interactions
ENSG00000106635	chromatin interactions
ENSG00000166428	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000203485	chromatin interactions
ENSG00000258701	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000207568	chromatin interactions
ENSG00000159086	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000148175	chromatin interactions
ENSG00000270141	chromatin interactions
ENSG00000129691	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000205930	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2841220	chr14:105329758-105329759	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545844815	chr14:105329770-105329771	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs368470284	chr14:105329778-105329779	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs531382096	chr14:105329832-105329833	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs538047620	chr14:105329902-105329903	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs548199114	chr14:105329928-105329929	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
7	rs567993737	chr14:105329980-105329981	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
8	rs548403302	chr14:105330010-105330011	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
9	rs568533767	chr14:105330030-105330031	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
10	rs2582565	chr14:105330036-105330037	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567019200	chr14:105330120-105330121	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
12	rs551126848	chr14:105330136-105330137	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
13	rs145520458	chr14:105330138-105330139	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
14	rs199542375	chr14:105330144-105330145	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
15	rs55766645	chr14:105330145-105330146	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
16	rs55664235	chr14:105330148-105330149	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571300977	chr14:105330230-105330231	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
18	rs552202632	chr14:105330272-105330273	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
19	rs569004552	chr14:105330335-105330336	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs59832661	chr14:105330360-105330361	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs535588557	chr14:105330384-105330385	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs574667410	chr14:105330399-105330400	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs184774864	chr14:105330403-105330404	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs551148272	chr14:105330519-105330520	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs553695570	chr14:105330583-105330584	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs576923430	chr14:105330587-105330588	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs546017924	chr14:105330601-105330602	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs562613819	chr14:105330605-105330606	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs188441904	chr14:105330611-105330612	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs576190579	chr14:105330616-105330617	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs541874411	chr14:105330626-105330627	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs34611664	chr14:105330641-105330642	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
33	rs561638659	chr14:105330643-105330644	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs530340897	chr14:105330664-105330665	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs61995985	chr14:105330676-105330677	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs75986191	chr14:105330708-105330709	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs532784959	chr14:105330770-105330771	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs533924198	chr14:105330838-105330839	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs61995986	chr14:105330871-105330872	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs566403938	chr14:105330898-105330899	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs569041242	chr14:105330901-105330902	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs537922104	chr14:105330937-105330938	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs548194840	chr14:105331010-105331011	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
44	rs568402353	chr14:105331021-105331022	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs113549484	chr14:105331026-105331027	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs533848538	chr14:105331066-105331067	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs554082394	chr14:105331159-105331160	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
48	rs193080743	chr14:105331238-105331239	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
49	rs539678781	chr14:105331257-105331258	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
50	rs543143331	chr14:105331292-105331293	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	19587683	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

Chromatin state (count:340 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105311000-105330600	Weak transcription	Right Atrium	heart
2	chr14:105320200-105330400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:105323800-105330200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:105324000-105330800	Weak transcription	Brain Substantia Nigra	brain
5	chr14:105325000-105330200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:105327600-105329800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr14:105327600-105330200	Weak transcription	Esophagus	oesophagus
8	chr14:105327800-105329800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:105327800-105330200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:105327800-105330200	Weak transcription	Liver	Liver
11	chr14:105327800-105330200	Weak transcription	Hela-S3	cervix
12	chr14:105328200-105330200	Enhancers	Pancreas	Pancrea
13	chr14:105328400-105330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:105328800-105329800	Genic enhancers	HepG2	liver
15	chr14:105328800-105329800	Strong transcription	NHEK	skin
16	chr14:105328800-105330200	Weak transcription	A549	lung
17	chr14:105329200-105329800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:105329400-105329800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:105329400-105329800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:105329400-105329800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
21	chr14:105329400-105330000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr14:105329600-105329800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr14:105329600-105329800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:105329600-105329800	Enhancers	H9 Cell Line	embryonic stem cell
25	chr14:105329600-105329800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:105329600-105329800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:105329600-105329800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:105329600-105329800	Flanking Active TSS	Colonic Mucosa	Colon
29	chr14:105329600-105329800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
30	chr14:105329600-105329800	Flanking Active TSS	Gastric	stomach
31	chr14:105329600-105329800	Flanking Active TSS	Stomach Mucosa	stomach
32	chr14:105329600-105330000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr14:105329600-105330000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr14:105329600-105330000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr14:105329600-105330000	Flanking Active TSS	HMEC	breast
36	chr14:105329600-105330400	Enhancers	Placenta	Placenta
37	chr14:105329600-105330400	Enhancers	Lung	lung
38	chr14:105329600-105330600	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:105329800-105330000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr14:105329800-105330000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr14:105329800-105330000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
42	chr14:105329800-105330000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:105329800-105330000	Active TSS	Colonic Mucosa	Colon
44	chr14:105329800-105330000	Enhancers	Stomach Mucosa	stomach
45	chr14:105329800-105330000	Flanking Active TSS	HepG2	liver
46	chr14:105329800-105330000	Flanking Active TSS	NHEK	skin
47	chr14:105329800-105330200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:105329800-105330200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:105329800-105330200	Active TSS	Fetal Intestine Small	intestine
50	chr14:105329800-105330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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