Variant report

Variant	esv3380677
Chromosome Location	chr14:105766332-105769080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:477)
CpG islands
(count:733)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:105767190-105767604	HepG2	liver:	n/a	n/a
2	BACH1	chr14:105766424-105767645	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCLAF1	chr14:105766850-105767395	GM12878	blood:	n/a	n/a
4	BHLHE40	chr14:105767201-105767636	K562	blood:	n/a	n/a
5	BHLHE40	chr14:105766686-105767711	HepG2	liver:	n/a	chr14:105766760-105766776
6	BHLHE40	chr14:105767853-105768215	K562	blood:	n/a	n/a
7	BHLHE40	chr14:105766831-105767705	GM12878	blood:	n/a	n/a
8	BHLHE40	chr14:105767913-105768111	GM12878	blood:	n/a	n/a
9	BRCA1	chr14:105766891-105767649	GM12878	blood:	n/a	n/a
10	BRCA1	chr14:105766891-105767604	HepG2	liver:	n/a	n/a
11	BRCA1	chr14:105766891-105767298	H1-hESC	embryonic stem cell:	n/a	n/a
12	BRCA1	chr14:105766843-105767916	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr14:105767136-105767735	K562	blood:	n/a	n/a
14	CBX3	chr14:105767897-105768155	K562	blood:	n/a	n/a
15	CCNT2	chr14:105766686-105768120	K562	blood:	n/a	chr14:105767659-105767668
16	CEBPB	chr14:105767004-105767243	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr14:105767925-105768011	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPD	chr14:105767067-105768002	HepG2	liver:	n/a	n/a
19	CEBPD	chr14:105767696-105767995	HepG2	liver:	n/a	n/a
20	CHD1	chr14:105766745-105767279	GM12878	blood:	n/a	n/a
21	CHD2	chr14:105766568-105766594	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr14:105766846-105767883	GM12878	blood:	n/a	n/a
23	CHD2	chr14:105766674-105767676	K562	blood:	n/a	n/a
24	CHD2	chr14:105766829-105767941	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr14:105766730-105768109	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr14:105767934-105767980	K562	blood:	n/a	n/a
27	CHD2	chr14:105766863-105767699	HepG2	liver:	n/a	n/a
28	CREB1	chr14:105766729-105768188	A549	lung:	n/a	n/a
29	CREB1	chr14:105767136-105768126	H1-hESC	embryonic stem cell:	n/a	n/a
30	CREB1	chr14:105766855-105767666	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr14:105767283-105767411	GM12878	blood:	n/a	n/a
32	CTCF	chr14:105767840-105767990	SK-N-SH_RA	brain:	n/a	chr14:105767899-105767912 chr14:105767899-105767908
33	CTCF	chr14:105767268-105767337	GM12891	blood:	n/a	n/a
34	CTCF	chr14:105767180-105767330	SK-N-SH_RA	brain:	n/a	n/a
35	CTCF	chr14:105767840-105767990	GM12870	blood:	n/a	chr14:105767899-105767912 chr14:105767899-105767908
36	CTCF	chr14:105766380-105766530	GM12874	blood:	n/a	n/a
37	CTCF	chr14:105766640-105766790	GM12873	blood:	n/a	chr14:105766762-105766775
38	CTCF	chr14:105767856-105768013	GM12878	blood:	n/a	chr14:105767899-105767912 chr14:105767899-105767908
39	CTCF	chr14:105767840-105767990	HUVEC	blood vessel:	n/a	chr14:105767899-105767912 chr14:105767899-105767908
40	CTCF	chr14:105767287-105767309	IMR90	lung:	n/a	n/a
41	CTCF	chr14:105767240-105767390	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr14:105766826-105766952	GM19239	blood:	n/a	n/a
43	CTCF	chr14:105767241-105767328	GM19238	blood:	n/a	n/a
44	CTCF	chr14:105767260-105767410	AG04449	skin:	n/a	n/a
45	CTCF	chr14:105766460-105766610	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr14:105767195-105767414	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr14:105767180-105767330	HMEC	breast:	n/a	n/a
48	CTCF	chr14:105767220-105767370	HUVEC	blood vessel:	n/a	n/a
49	CTCF	chr14:105767900-105768050	SAEC	small airway:	n/a	n/a
50	CTCF	chr14:105766240-105766390	GM12873	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105767882-105767932	CMK	blood:	n/a
2	chr14:105767882-105767932	CMK	blood:	n/a
3	chr14:105767409-105767459	NHBE	bronchial:	n/a
4	chr14:105767399-105767449	NHDF-neo	bronchial:	n/a
5	chr14:105767639-105767689	T-47D	breast:	n/a
6	chr14:105766991-105767041	T-47D	breast:	n/a
7	chr14:105767366-105767416	GM06990	blood:	n/a
8	chr14:105767409-105767459	CMK	blood:	n/a
9	chr14:105767409-105767459	GM19239	blood:	n/a
10	chr14:105766346-105766396	MCF-7	breast:	n/a
11	chr14:105766991-105767041	GM19239	blood:	n/a
12	chr14:105767399-105767449	ProgFib	skin:	n/a
13	chr14:105767882-105767932	HMEC	breast:	n/a
14	chr14:105766991-105767041	PFSK-1	brain:	n/a
15	chr14:105766991-105767041	K562	blood:	n/a
16	chr14:105768109-105768159	NB4	blood:	n/a
17	chr14:105767391-105767441	HAEpiC	amniotic membrane:	n/a
18	chr14:105767399-105767449	Caco-2	colon:	n/a
19	chr14:105767409-105767459	HPAEpiC	pulmonary alveolar:	n/a
20	chr14:105767639-105767689	NB4	blood:	n/a
21	chr14:105767409-105767459	HL-60	blood:	n/a
22	chr14:105767399-105767449	SK-N-SH_RA	brain:	n/a
23	chr14:105768109-105768159	ECC-1	luminal epithelium:	n/a
24	chr14:105767639-105767689	AG10803	skin:	n/a
25	chr14:105767391-105767441	MCF10A-Er-Src	breast:	n/a
26	chr14:105767366-105767416	NHDF-neo	bronchial:	n/a
27	chr14:105767399-105767449	ECC-1	luminal epithelium:	n/a
28	chr14:105767639-105767689	HUVEC	blood vessel:	n/a
29	chr14:105767520-105767570	NHBE	bronchial:	n/a
30	chr14:105766987-105767037	HPAEpiC	pulmonary alveolar:	n/a
31	chr14:105766987-105767037	ovcar-3	ovarian:	n/a
32	chr14:105767399-105767449	NB4	blood:	n/a
33	chr14:105766987-105767037	T-47D	breast:	n/a
34	chr14:105766987-105767037	GM12878	blood:	n/a
35	chr14:105767882-105767932	AG04450	lung:	fetal
36	chr14:105767391-105767441	H1-hESC	embryonic stem cell:	embryo
37	chr14:105767366-105767416	GM19239	blood:	n/a
38	chr14:105767882-105767932	AG09309	skin:	n/a
39	chr14:105767457-105767507	HRE	kidney:	n/a
40	chr14:105767391-105767441	Hepatocyte	liver:	n/a
41	chr14:105767520-105767570	K562	blood:	n/a
42	chr14:105767882-105767932	AG04449	skin:	fetal
43	chr14:105767639-105767689	SK-N-SH_RA	brain:	n/a
44	chr14:105767399-105767449	LNCaP	prostate:	n/a
45	chr14:105767391-105767441	AG09309	skin:	n/a
46	chr14:105767391-105767441	AG09319	gingival:	n/a
47	chr14:105767520-105767570	ovcar-3	ovarian:	n/a
48	chr14:105767520-105767570	HEEpiC	esophagus:	n/a
49	chr14:105767399-105767449	HPAEpiC	pulmonary alveolar:	n/a
50	chr14:105767457-105767507	A549	lung:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:144533618..144534203-chr14:105766994..105767831,2	Hela-S3	cervix:
2	chr14:105766164..105768024-chr14:105938486..105941026,2	MCF-7	breast:
3	chr14:105765913..105767563-chr14:105954548..105956473,2	MCF-7	breast:
4	chr14:105766401..105768254-chr14:105864654..105866501,3	MCF-7	breast:
5	chr14:105764841..105767262-chr14:105768886..105771341,2	MCF-7	breast:
6	chr14:105766778..105767468-chr16:88717407..88718073,2	Hela-S3	cervix:
7	chr14:105766350..105771356-chr14:105955110..105959126,6	MCF-7	breast:
8	chr14:105766490..105767158-chr17:41465540..41466173,2	Hela-S3	cervix:
9	chr14:105765282..105769482-chr14:105778355..105784135,18	K562	blood:
10	chr14:105443928..105445902-chr14:105765680..105767557,2	MCF-7	breast:
11	chr14:105765307..105769571-chr14:105774220..105784135,13	K562	blood:
12	chr14:105265110..105267765-chr14:105766806..105769681,2	K562	blood:
13	chr14:105760458..105762689-chr14:105764878..105766519,2	K562	blood:
14	chr14:105768384..105770510-chr14:105839259..105840826,2	MCF-7	breast:
15	chr14:105767766..105768456-chr14:105800435..105801361,2	MCF-7	breast:
16	chr14:23540375..23540895-chr14:105767305..105768183,2	HCT-116	colon:
17	chr14:105713379..105716522-chr14:105764463..105769159,4	MCF-7	breast:
18	chr14:105713902..105716022-chr14:105768956..105770763,2	MCF-7	breast:

No data

Variant related genes	Relation type
BRF1	TF binding region
PACS2	TF binding region
BRF1	CpG island
PACS2	CpG island
ENSG00000257341	chromatin interactions
ENSG00000100813	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000184887	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000185347	chromatin interactions
ENSG00000051523	chromatin interactions
ENSG00000226174	chromatin interactions
ENSG00000185024	chromatin interactions
ENSG00000179627	chromatin interactions
ENSG00000179364	chromatin interactions
ENSG00000182809	chromatin interactions
ENSG00000188825	chromatin interactions

Extended variants
information (count: 65 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149224635	chr14:105766356-105766357	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs587706113	chr14:105766447-105766448	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs587604871	chr14:105766473-105766474	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs587679478	chr14:105766585-105766586	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs587712729	chr14:105766591-105766592	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs587632508	chr14:105766608-105766609	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs190328979	chr14:105766638-105766639	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs587666714	chr14:105766656-105766657	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs143376890	chr14:105766662-105766663	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs587639646	chr14:105766831-105766832	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs201800759	chr14:105766883-105766884	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs587694835	chr14:105766913-105766914	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs587752262	chr14:105766933-105766934	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs587647790	chr14:105766988-105766989	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs111525339	chr14:105766991-105766992	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs587679134	chr14:105766995-105766996	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs113113401	chr14:105767043-105767044	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs193282388	chr14:105767127-105767128	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs1140078	chr14:105767155-105767156	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs185057150	chr14:105767174-105767175	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs587692267	chr14:105767238-105767239	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs587751670	chr14:105767263-105767264	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs587646776	chr14:105767285-105767286	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs139282295	chr14:105767292-105767293	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs587657142	chr14:105767293-105767294	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs587705720	chr14:105767393-105767394	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs371087469	chr14:105767446-105767447	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs375637888	chr14:105767499-105767500	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
29	rs587637105	chr14:105767592-105767593	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs587721203	chr14:105767647-105767648	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs587596981	chr14:105767650-105767651	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs587692977	chr14:105767734-105767735	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs587752228	chr14:105767747-105767748	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs587687991	chr14:105767770-105767771	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs188994539	chr14:105767874-105767875	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs368071535	chr14:105767923-105767924	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs587658791	chr14:105767954-105767955	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs587732323	chr14:105767955-105767956	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs587615592	chr14:105767966-105767967	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs181056154	chr14:105767989-105767990	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs587748848	chr14:105768016-105768017	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs587624456	chr14:105768057-105768058	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs587704026	chr14:105768115-105768116	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs139659125	chr14:105768131-105768132	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs75383873	chr14:105768138-105768139	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs587757822	chr14:105768158-105768159	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs143189898	chr14:105768172-105768173	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs587688442	chr14:105768353-105768354	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs587762984	chr14:105768368-105768369	Active TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs587640190	chr14:105768420-105768421	Weak transcription Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	19435499	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	20139093	CNVD
Hepatocellular carcinoma	16750200	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Glioblastoma multiforme	21922591	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	22174824	CNVD
Non-small cell lung cancer	18320023	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Congenital heart defect	22367666	CNVD
Developmental delay	22367666	CNVD
Genitourinary abnormalities	22367666	CNVD
Intellectual disability	22367666	CNVD
Microcephaly	22367666	CNVD
Muscularhypotonia	22367666	CNVD
Ocular coloboma	22367666	CNVD
Teratozoospermia	22367666	CNVD
Cervical cancer	21062161	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	21990379	CNVD
Breast cancer	16417655	CNVD
22q11 deletion syndrome	22511897	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Schizophrenia	21399695	CNVD
Intracranial ependymoma	16609018	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
14q deletion syndrome	22511897	CNVD
Epilepsy	22083797	CNVD
Ovarian cancer	21720365	CNVD
Cancer	17440070	CNVD
Neurocytoma	17123091	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Central neurocytomas	17123091	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Lung cancer	17086460	CNVD
Mortal	21835882	CNVD
small cell lung cancer	17426248	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	20369283	CNVD

Chromatin state (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105765600-105766400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:105765600-105766400	Flanking Active TSS	Hela-S3	cervix
3	chr14:105765600-105766600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:105765600-105766600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:105765600-105766600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:105765600-105766600	Flanking Active TSS	Fetal Brain Female	brain
7	chr14:105765600-105766600	Flanking Active TSS	Dnd41	blood
8	chr14:105765600-105766600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr14:105765600-105767000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:105765600-105767000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:105765600-105767000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr14:105765600-105768400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:105765800-105766400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:105765800-105766400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr14:105765800-105766400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:105765800-105766400	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr14:105765800-105766400	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr14:105765800-105766400	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr14:105765800-105766400	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr14:105765800-105766400	Flanking Active TSS	Fetal Lung	lung
21	chr14:105765800-105766400	Flanking Active TSS	K562	blood
22	chr14:105765800-105766400	Flanking Active TSS	NHEK	skin
23	chr14:105765800-105766600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:105765800-105766600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr14:105765800-105766600	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr14:105765800-105766600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr14:105765800-105766600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr14:105765800-105766600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr14:105765800-105766600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr14:105765800-105766600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:105765800-105766600	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr14:105765800-105766600	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr14:105765800-105766600	Flanking Active TSS	Colonic Mucosa	Colon
34	chr14:105765800-105766600	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr14:105765800-105766600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr14:105765800-105766600	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr14:105765800-105766600	Flanking Active TSS	HMEC	breast
38	chr14:105765800-105766600	Flanking Active TSS	HUVEC	blood vessel
39	chr14:105765800-105766600	Flanking Active TSS	Osteobl	bone
40	chr14:105765800-105766800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr14:105765800-105766800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:105765800-105766800	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr14:105765800-105766800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr14:105765800-105766800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:105765800-105766800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr14:105765800-105766800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr14:105765800-105766800	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr14:105765800-105768400	Active TSS	A549	lung
49	chr14:105766000-105766400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
50	chr14:105766000-105766400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links