Variant report

Variant	esv3518456
Chromosome Location	chr14:105330607-105333005
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:375)
CpG islands
(count:366)
Chromatin interactive
region (count:43)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:375 , 50 per page) page: 1 2 3 4 5 6 7 8

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	BHLHE40	chr14:105332117-105332254	K562	blood:	n/a	n/a
6	BRCA1	chr14:105330583-105331276	Hela-S3	cervix:	n/a	n/a
7	CCNT2	chr14:105331578-105332342	K562	blood:	n/a	chr14:105331965-105331974
8	CEBPB	chr14:105330612-105330935	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr14:105330296-105330832	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPD	chr14:105330886-105331250	HepG2	liver:	n/a	n/a
11	CHD1	chr14:105332060-105332361	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD1	chr14:105331057-105331245	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr14:105332187-105332246	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr14:105330676-105331003	HepG2	liver:	n/a	n/a
15	CHD2	chr14:105330529-105331615	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr14:105332266-105332284	K562	blood:	n/a	n/a
17	CHD2	chr14:105330580-105331038	H1-hESC	embryonic stem cell:	n/a	n/a
18	CREB1	chr14:105331395-105332291	A549	lung:	n/a	n/a
19	CREB1	chr14:105330553-105331043	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr14:105330788-105331287	A549	lung:	n/a	n/a
21	CTBP2	chr14:105330321-105331293	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTBP2	chr14:105331960-105332433	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr14:105332600-105332750	AG04449	skin:	n/a	n/a
24	CTCF	chr14:105332300-105332450	A549	lung:	n/a	n/a
25	CTCF	chr14:105330660-105330810	HMEC	breast:	n/a	n/a
26	CTCF	chr14:105332420-105332570	BJ	skin:	n/a	n/a
27	CTCF	chr14:105331200-105331350	HMEC	breast:	n/a	chr14:105331271-105331284
28	CTCF	chr14:105331260-105331410	NHEK	skin:	n/a	chr14:105331271-105331284
29	CTCF	chr14:105332520-105332670	NHEK	skin:	n/a	n/a
30	CTCF	chr14:105332900-105333050	SAEC	small airway:	n/a	chr14:105332930-105332943
31	CTCF	chr14:105332540-105332690	HRE	kidney:	n/a	n/a
32	CTCF	chr14:105331140-105331290	MCF-7	breast:	n/a	chr14:105331271-105331284
33	CTCF	chr14:105331280-105331430	SAEC	small airway:	n/a	n/a
34	CTCF	chr14:105332100-105332250	AG04449	skin:	n/a	n/a
35	CTCF	chr14:105332480-105332630	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr14:105331293-105331320	H1-hESC	embryonic stem cell:	n/a	n/a
37	E2F4	chr14:105330697-105331053	MCF10A-Er-Src	breast:	n/a	chr14:105330792-105330801
38	E2F4	chr14:105332031-105332355	MCF10A-Er-Src	breast:	n/a	n/a
39	E2F6	chr14:105330523-105331203	H1-hESC	embryonic stem cell:	n/a	chr14:105330792-105330801 chr14:105330615-105330625
40	E2F6	chr14:105331566-105331744	K562	blood:	n/a	n/a
41	E2F6	chr14:105330356-105331384	H1-hESC	embryonic stem cell:	n/a	chr14:105330792-105330801 chr14:105330615-105330625 chr14:105331366-105331376
42	E2F6	chr14:105331034-105331272	K562	blood:	n/a	n/a
43	E2F6	chr14:105331330-105331533	K562	blood:	n/a	chr14:105331366-105331376
44	EGR1	chr14:105331379-105331704	K562	blood:	n/a	n/a
45	EGR1	chr14:105332040-105332387	ECC-1	luminal epithelium:	n/a	chr14:105332074-105332084 chr14:105332073-105332087 chr14:105332075-105332085 chr14:105332072-105332085
46	EGR1	chr14:105331832-105332348	K562	blood:	n/a	chr14:105332074-105332084 chr14:105332073-105332087 chr14:105332075-105332085 chr14:105332072-105332085
47	EGR1	chr14:105331402-105331670	K562	blood:	n/a	n/a
48	EGR1	chr14:105331959-105332448	H1-hESC	embryonic stem cell:	n/a	chr14:105332074-105332084 chr14:105332073-105332087 chr14:105332075-105332085 chr14:105332072-105332085
49	EGR1	chr14:105331839-105332547	HCT-116	colon:	n/a	chr14:105332074-105332084 chr14:105332073-105332087 chr14:105332075-105332085 chr14:105332072-105332085
50	EGR1	chr14:105331897-105332399	ECC-1	luminal epithelium:	n/a	chr14:105332074-105332084 chr14:105332073-105332087 chr14:105332075-105332085 chr14:105332072-105332085

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105330648-105330698	H1-hESC	embryonic stem cell:	embryo
2	chr14:105330648-105330698	PFSK-1	brain:	n/a
3	chr14:105330648-105330698	MCF-7	breast:	n/a
4	chr14:105331124-105331174	NB4	blood:	n/a
5	chr14:105331124-105331174	AG10803	skin:	n/a
6	chr14:105330630-105330680	HUVEC	blood vessel:	n/a
7	chr14:105331124-105331174	HepG2	liver:	n/a
8	chr14:105332484-105332534	HEEpiC	esophagus:	n/a
9	chr14:105332600-105332650	PFSK-1	brain:	n/a
10	chr14:105332484-105332534	PrEC	prostate:	n/a
11	chr14:105332600-105332650	GM12878	blood:	n/a
12	chr14:105332600-105332650	NHBE	bronchial:	n/a
13	chr14:105330648-105330698	NT2-D1	testis:	n/a
14	chr14:105332600-105332650	HAEpiC	amniotic membrane:	n/a
15	chr14:105332600-105332650	NB4	blood:	n/a
16	chr14:105331124-105331174	K562	blood:	n/a
17	chr14:105332627-105332677	PrEC	prostate:	n/a
18	chr14:105332484-105332534	AG09319	gingival:	n/a
19	chr14:105331124-105331174	AG04450	lung:	fetal
20	chr14:105332627-105332677	MCF-7	breast:	n/a
21	chr14:105332484-105332534	HMEC	breast:	n/a
22	chr14:105330648-105330698	HRPEpiC	eye:	n/a
23	chr14:105332627-105332677	AG04449	skin:	fetal
24	chr14:105332627-105332677	SAEC	small airway:	n/a
25	chr14:105332627-105332677	T-47D	breast:	n/a
26	chr14:105330648-105330698	GM12878	blood:	n/a
27	chr14:105330648-105330698	GM06990	blood:	n/a
28	chr14:105332627-105332677	GM06990	blood:	n/a
29	chr14:105332484-105332534	BJ	skin:	n/a
30	chr14:105332627-105332677	AG10803	skin:	n/a
31	chr14:105332600-105332650	HCM	heart:	n/a
32	chr14:105330648-105330698	AG09309	skin:	n/a
33	chr14:105332600-105332650	AG09309	skin:	n/a
34	chr14:105330648-105330698	AG04449	skin:	fetal
35	chr14:105331124-105331174	ECC-1	luminal epithelium:	n/a
36	chr14:105330630-105330680	PrEC	prostate:	n/a
37	chr14:105332627-105332677	GM19239	blood:	n/a
38	chr14:105332627-105332677	AG09319	gingival:	n/a
39	chr14:105331124-105331174	PFSK-1	brain:	n/a
40	chr14:105330630-105330680	CMK	blood:	n/a
41	chr14:105332484-105332534	NB4	blood:	n/a
42	chr14:105332627-105332677	BJ	skin:	n/a
43	chr14:105332627-105332677	NH-A	brain:	n/a
44	chr14:105330648-105330698	HCF	heart:	n/a
45	chr14:105332627-105332677	SK-N-SH	brain:	n/a
46	chr14:105332484-105332534	GM06990	blood:	n/a
47	chr14:105332600-105332650	GM19239	blood:	n/a
48	chr14:105332627-105332677	HIPEpiC	eye:	n/a
49	chr14:105330630-105330680	HRE	kidney:	n/a
50	chr14:105330648-105330698	HMEC	breast:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105261442..105265036-chr14:105329931..105332556,6	MCF-7	breast:
2	chr14:105265825..105268360-chr14:105330933..105332611,2	K562	blood:
3	chr12:107349163..107350048-chr14:105332332..105333107,2	Hela-S3	cervix:
4	chr14:105332387..105333907-chr17:41398401..41400299,2	K562	blood:
5	chr14:105330661..105332395-chr14:105435326..105436995,2	MCF-7	breast:
6	chr14:105272275..105274283-chr14:105332253..105335339,3	MCF-7	breast:
7	chr14:105285820..105287586-chr14:105330282..105332678,2	MCF-7	breast:
8	chr14:105331733..105332483-chr22:46692142..46692982,2	Hela-S3	cervix:
9	chr14:105308114..105313218-chr14:105327481..105332918,6	MCF-7	breast:
10	chr14:105331349..105332321-chr7:72971566..72972148,2	Hela-S3	cervix:
11	chr14:105330948..105331645-chr9:124131985..124132887,2	Hela-S3	cervix:
12	chr14:105265912..105268902-chr14:105329301..105333250,7	MCF-7	breast:
13	chr14:105330664..105331320-chr2:28616333..28616909,2	Hela-S3	cervix:
14	chr14:105330633..105331476-chr3:169482551..169483332,2	Hela-S3	cervix:
15	chr14:105329238..105330750-chr14:105398198..105400578,2	MCF-7	breast:
16	chr14:105331021..105331595-chr8:37962974..37963518,2	Hela-S3	cervix:
17	chr14:105219309..105221110-chr14:105331526..105333449,2	MCF-7	breast:
18	chr14:105331438..105333394-chr14:105486290..105488258,2	MCF-7	breast:
19	chr14:105256932..105260148-chr14:105329998..105332768,3	MCF-7	breast:
20	chr14:105329992..105332567-chr14:105443160..105445644,3	MCF-7	breast:
21	chr14:105260251..105263637-chr14:105331262..105334523,4	K562	blood:
22	chr14:105189491..105192321-chr14:105330355..105333549,3	MCF-7	breast:
23	chr14:105189587..105192281-chr14:105330727..105332921,2	MCF-7	breast:
24	chr14:105218737..105221632-chr14:105330382..105333808,5	MCF-7	breast:
25	chr14:105331442..105333912-chr14:105397463..105399152,2	MCF-7	breast:
26	chr14:105330034..105333542-chr14:105435222..105437371,5	MCF-7	breast:
27	chr14:105325199..105327039-chr14:105327761..105330678,2	K562	blood:
28	chr14:105329781..105332832-chr14:105486734..105489071,3	MCF-7	breast:
29	chr14:105311809..105313743-chr14:105332493..105335026,2	K562	blood:
30	chr14:105329803..105331498-chr14:105500045..105502562,2	MCF-7	breast:
31	chr14:104583302..104584888-chr14:105330259..105333075,2	MCF-7	breast:
32	chr14:105207480..105209427-chr14:105330938..105333680,2	K562	blood:
33	chr14:105260375..105263562-chr14:105329763..105332955,5	MCF-7	breast:
34	chr14:105330970..105331563-chr21:34143926..34144520,2	Hela-S3	cervix:
35	chr14:105287373..105290281-chr14:105329548..105332218,5	MCF-7	breast:
36	chr14:105277673..105279757-chr14:105329358..105331314,2	K562	blood:
37	chr14:105250763..105252757-chr14:105330393..105333309,2	K562	blood:
38	chr14:105218593..105220961-chr14:105330031..105332053,2	K562	blood:
39	chr14:105155136..105157307-chr14:105329558..105331716,2	MCF-7	breast:
40	chr14:105239791..105242217-chr14:105329726..105333005,4	MCF-7	breast:
41	chr14:105331357..105331974-chr16:475636..476384,2	Hela-S3	cervix:
42	chr14:105218520..105220093-chr14:105330553..105332132,2	K562	blood:
43	chr14:105330324..105332130-chr14:105360208..105362418,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
CEP170B	TF binding region
CEP170B	CpG island
ENSG00000260329	chromatin interactions
ENSG00000258701	chromatin interactions
ENSG00000207568	chromatin interactions
ENSG00000185100	chromatin interactions
ENSG00000106635	chromatin interactions
ENSG00000159086	chromatin interactions
ENSG00000151135	chromatin interactions
ENSG00000270141	chromatin interactions
ENSG00000170779	chromatin interactions
ENSG00000090565	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000075218	chromatin interactions
ENSG00000205930	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000203485	chromatin interactions
ENSG00000142208	chromatin interactions
ENSG00000129691	chromatin interactions
ENSG00000258811	chromatin interactions
ENSG00000148175	chromatin interactions
ENSG00000166428	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	rs373070078	chr14:105331296-105331297	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
24	rs556371721	chr14:105331300-105331301	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
25	rs200210525	chr14:105331303-105331304	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
26	rs546341589	chr14:105331338-105331339	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
27	rs576225070	chr14:105331447-105331448	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
28	rs8008126	chr14:105331457-105331458	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2841221	chr14:105331466-105331467	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2841222	chr14:105331483-105331484	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs571958317	chr14:105331487-105331488	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
32	rs540664791	chr14:105331488-105331489	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
33	rs185665842	chr14:105331497-105331498	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
34	rs548529289	chr14:105331728-105331729	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs560879514	chr14:105331823-105331824	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs2582564	chr14:105331835-105331836	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs112614583	chr14:105331845-105331846	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs2582563	chr14:105331893-105331894	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs562710870	chr14:105331964-105331965	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs72635202	chr14:105332001-105332002	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs548231422	chr14:105332041-105332042	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs568459265	chr14:105332056-105332057	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs112110462	chr14:105332091-105332092	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs527726822	chr14:105332128-105332129	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs547459146	chr14:105332139-105332140	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs377318497	chr14:105332242-105332243	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs112746707	chr14:105332251-105332252	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs570751738	chr14:105332292-105332293	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs189313437	chr14:105332298-105332299	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs556407994	chr14:105332373-105332374	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	13 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:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105324000-105330800	Weak transcription	Brain Substantia Nigra	brain
2	chr14:105329800-105330800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:105329800-105331200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:105329800-105331200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr14:105329800-105331200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr14:105329800-105331200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
7	chr14:105329800-105332600	Active TSS	Gastric	stomach
8	chr14:105329800-105333200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:105330000-105331200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
10	chr14:105330000-105331200	Active TSS	Stomach Mucosa	stomach
11	chr14:105330000-105332400	Active TSS	Duodenum Mucosa	Duodenum
12	chr14:105330000-105332600	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr14:105330000-105332600	Active TSS	HMEC	breast
14	chr14:105330000-105332800	Active TSS	NHEK	skin
15	chr14:105330000-105333200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr14:105330000-105333400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr14:105330000-105333400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr14:105330200-105330800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:105330200-105330800	Flanking Active TSS	Pancreas	Pancrea
20	chr14:105330200-105331200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:105330200-105331200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr14:105330200-105331200	Bivalent/Poised TSS	Fetal Brain Female	brain
23	chr14:105330200-105331200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
24	chr14:105330200-105331200	Bivalent/Poised TSS	Fetal Kidney	kidney
25	chr14:105330200-105331400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:105330200-105331400	Bivalent/Poised TSS	HSMM	muscle
27	chr14:105330200-105332400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:105330200-105332600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr14:105330200-105332600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr14:105330200-105332600	Active TSS	Small Intestine	intestine
31	chr14:105330200-105332800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr14:105330200-105332800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr14:105330200-105332800	Active TSS	Rectal Smooth Muscle	rectum
34	chr14:105330200-105333000	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr14:105330400-105330800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:105330400-105330800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:105330400-105330800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr14:105330400-105330800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:105330400-105330800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:105330400-105330800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr14:105330400-105330800	Flanking Active TSS	A549	lung
42	chr14:105330400-105331000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
43	chr14:105330400-105331000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr14:105330400-105331000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:105330400-105331000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr14:105330400-105331000	Bivalent Enhancer	Fetal Thymus	thymus
47	chr14:105330400-105331000	Enhancers	Spleen	Spleen
48	chr14:105330400-105331200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:105330400-105331200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
50	chr14:105330400-105331200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin

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