Variant report

Variant	esv3379257
Chromosome Location	chr14:105265732-105268280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:607)
CpG islands
(count:366)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:607 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:105267351-105267421	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:105266730-105266731	HepG2	liver:	n/a	n/a
3	ATF2	chr14:105266229-105266578	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr14:105266536-105266942	GM12878	blood:	n/a	n/a
5	ATF2	chr14:105266430-105266704	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr14:105266555-105266971	K562	blood:	n/a	chr14:105266774-105266787
7	BACH1	chr14:105265908-105266571	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr14:105266377-105266454	K562	blood:	n/a	n/a
9	BACH1	chr14:105267244-105267817	H1-hESC	embryonic stem cell:	n/a	n/a
10	BHLHE40	chr14:105267264-105267669	HepG2	liver:	n/a	chr14:105267443-105267459
11	BHLHE40	chr14:105267263-105267649	K562	blood:	n/a	chr14:105267443-105267459
12	BHLHE40	chr14:105265744-105265882	K562	blood:	n/a	n/a
13	BHLHE40	chr14:105267194-105267456	GM12878	blood:	n/a	n/a
14	BHLHE40	chr14:105266540-105266816	K562	blood:	n/a	n/a
15	BRCA1	chr14:105266540-105266785	GM12878	blood:	n/a	chr14:105266658-105266667
16	BRCA1	chr14:105266477-105266850	HepG2	liver:	n/a	chr14:105266658-105266667
17	BRCA1	chr14:105266473-105266827	H1-hESC	embryonic stem cell:	n/a	chr14:105266658-105266667
18	BRCA1	chr14:105267314-105267442	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr14:105267310-105267478	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr14:105266018-105266215	HepG2	liver:	n/a	n/a
21	CBX3	chr14:105266397-105266640	K562	blood:	n/a	n/a
22	CCNT2	chr14:105266425-105267547	K562	blood:	n/a	n/a
23	CEBPD	chr14:105266434-105267300	HepG2	liver:	n/a	n/a
24	CEBPD	chr14:105266411-105266985	K562	blood:	n/a	n/a
25	CEBPD	chr14:105266518-105266879	HepG2	liver:	n/a	n/a
26	CHD1	chr14:105267352-105267539	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr14:105265778-105266868	H1-hESC	embryonic stem cell:	n/a	chr14:105266658-105266667 chr14:105266855-105266865
28	CHD2	chr14:105265972-105266916	K562	blood:	n/a	chr14:105266860-105266870 chr14:105266658-105266667 chr14:105266855-105266865
29	CHD2	chr14:105266449-105266847	GM12878	blood:	n/a	chr14:105266658-105266667
30	CHD2	chr14:105266162-105266193	GM12878	blood:	n/a	n/a
31	CHD2	chr14:105267246-105267505	Hela-S3	cervix:	n/a	n/a
32	CHD2	chr14:105266068-105266896	HepG2	liver:	n/a	chr14:105266860-105266870 chr14:105266658-105266667 chr14:105266855-105266865
33	CHD2	chr14:105266585-105266852	Hela-S3	cervix:	n/a	chr14:105266658-105266667
34	CHD2	chr14:105267361-105267577	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr14:105266401-105267995	HepG2	liver:	n/a	n/a
36	CREB1	chr14:105266618-105266909	A549	lung:	n/a	n/a
37	CTBP2	chr14:105265584-105266198	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr14:105267640-105267790	HCPEpiC	choroid plexus:	n/a	n/a
39	CTCF	chr14:105266600-105266750	HAc	cerebellar:	n/a	chr14:105266716-105266725
40	CTCF	chr14:105265980-105266130	AG10803	skin:	n/a	n/a
41	CTCF	chr14:105266660-105266810	GM12869	blood:	n/a	chr14:105266716-105266725
42	CTCF	chr14:105266847-105266850	GM13977	blood:	n/a	n/a
43	CTCF	chr14:105265948-105266184	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr14:105265936-105266122	GM19239	blood:	n/a	n/a
45	CTCF	chr14:105265960-105266110	AG09319	gingival:	n/a	n/a
46	CTCF	chr14:105266660-105266810	NHEK	skin:	n/a	chr14:105266716-105266725
47	CTCF	chr14:105265980-105266130	K562	blood:	n/a	n/a
48	CTCF	chr14:105265960-105266110	HepG2	liver:	n/a	n/a
49	CTCF	chr14:105266640-105266790	K562	blood:	n/a	chr14:105266716-105266725
50	CTCF	chr14:105266880-105267030	AG04449	skin:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:105265793-105265843	SK-N-SH	brain:	n/a
2	chr14:105267586-105267636	NH-A	brain:	n/a
3	chr14:105267586-105267636	NT2-D1	testis:	n/a
4	chr14:105267586-105267636	LNCaP	prostate:	n/a
5	chr14:105266545-105266595	ProgFib	skin:	n/a
6	chr14:105266900-105266950	H1-hESC	embryonic stem cell:	embryo
7	chr14:105267060-105267110	SK-N-MC	brain:	n/a
8	chr14:105267060-105267110	HCT-116	colon:	n/a
9	chr14:105267060-105267110	U87	brain:	n/a
10	chr14:105267586-105267636	HAEpiC	amniotic membrane:	n/a
11	chr14:105265793-105265843	HNPCEpiC	eye:	n/a
12	chr14:105267586-105267636	HRPEpiC	eye:	n/a
13	chr14:105267060-105267110	AG04450	lung:	fetal
14	chr14:105267586-105267636	U87	brain:	n/a
15	chr14:105267060-105267110	RPTEC	kidney:	n/a
16	chr14:105266900-105266950	NT2-D1	testis:	n/a
17	chr14:105265793-105265843	AG04449	skin:	fetal
18	chr14:105267586-105267636	ECC-1	luminal epithelium:	n/a
19	chr14:105267060-105267110	HMEC	breast:	n/a
20	chr14:105265793-105265843	HRE	kidney:	n/a
21	chr14:105265909-105265959	SK-N-SH_RA	brain:	n/a
22	chr14:105267060-105267110	HCF	heart:	n/a
23	chr14:105266900-105266950	HEK293	kidney:	embryo
24	chr14:105267586-105267636	HCT-116	colon:	n/a
25	chr14:105265793-105265843	HRPEpiC	eye:	n/a
26	chr14:105266545-105266595	AG04449	skin:	fetal
27	chr14:105266545-105266595	HPAEpiC	pulmonary alveolar:	n/a
28	chr14:105267060-105267110	GM19239	blood:	n/a
29	chr14:105265793-105265843	SK-N-MC	brain:	n/a
30	chr14:105266900-105266950	HEEpiC	esophagus:	n/a
31	chr14:105265793-105265843	H1-hESC	embryonic stem cell:	embryo
32	chr14:105265909-105265959	AG09319	gingival:	n/a
33	chr14:105266545-105266595	AG09319	gingival:	n/a
34	chr14:105267586-105267636	GM06990	blood:	n/a
35	chr14:105267060-105267110	NHDF-neo	bronchial:	n/a
36	chr14:105266900-105266950	IMR90	lung:	fetal
37	chr14:105265793-105265843	IMR90	lung:	fetal
38	chr14:105265793-105265843	HL-60	blood:	n/a
39	chr14:105266545-105266595	HCF	heart:	n/a
40	chr14:105267586-105267636	T-47D	breast:	n/a
41	chr14:105267060-105267110	AG09309	skin:	n/a
42	chr14:105265793-105265843	AG09309	skin:	n/a
43	chr14:105266900-105266950	SAEC	small airway:	n/a
44	chr14:105267586-105267636	IMR90	lung:	fetal
45	chr14:105266900-105266950	HCF	heart:	n/a
46	chr14:105267060-105267110	PANC-1	pancreas:	n/a
47	chr14:105266545-105266595	NT2-D1	testis:	n/a
48	chr14:105267060-105267110	NHBE	bronchial:	n/a
49	chr14:105266900-105266950	ovcar-3	ovarian:	n/a
50	chr14:105267060-105267110	AG04449	skin:	fetal

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105266268..105268334-chr14:105486957..105488737,2	K562	blood:
2	chr14:105264903..105267195-chr14:105323456..105325361,2	MCF-7	breast:
3	chr14:105217632..105222660-chr14:105263642..105269157,6	K562	blood:
4	chr14:105267306..105268128-chr14:105276242..105277034,2	MCF-7	breast:
5	chr14:104583312..104585180-chr14:105266957..105269171,2	MCF-7	breast:
6	chr14:105217901..105222027-chr14:105264438..105269623,6	K562	blood:
7	chr14:105267362..105269092-chr14:105436440..105438681,2	MCF-7	breast:
8	chr14:105266435..105267408-chr14:105286766..105287693,2	MCF-7	breast:
9	chr14:105264532..105267379-chr14:105360102..105364298,4	MCF-7	breast:
10	chr14:105265057..105267677-chr3:49054198..49056753,2	MCF-7	breast:
11	chr14:104576831..104579461-chr14:105265082..105267856,2	MCF-7	breast:
12	chr14:105265965..105267568-chr14:105442748..105445496,2	MCF-7	breast:
13	chr14:105265825..105268360-chr14:105330933..105332611,2	K562	blood:
14	chr14:105265912..105268902-chr14:105329301..105333250,7	MCF-7	breast:
15	chr14:105188315..105194275-chr14:105263600..105268559,9	MCF-7	breast:
16	chr14:105175368..105177558-chr14:105266041..105268999,2	MCF-7	breast:
17	chr14:105264148..105266055-chr14:105338238..105340290,2	K562	blood:
18	chr14:105259095..105269353-chr14:105280422..105289302,26	K562	blood:
19	chr14:105216947..105220630-chr14:105265563..105270028,6	MCF-7	breast:
20	chr14:105190071..105193724-chr14:105262102..105266779,4	K562	blood:
21	chr14:105265110..105267765-chr14:105766806..105769681,2	K562	blood:
22	chr14:105188668..105192164-chr14:105264427..105268088,6	MCF-7	breast:
23	chr14:105151580..105154010-chr14:105263839..105266807,2	MCF-7	breast:

No data

Variant related genes	Relation type
ZBTB42	TF binding region
AKT1	TF binding region
ZBTB42	CpG island
AKT1	CpG island
ENSG00000179364	chromatin interactions
ENSG00000099814	chromatin interactions
ENSG00000258593	chromatin interactions
ENSG00000184990	chromatin interactions
ENSG00000185024	chromatin interactions
ENSG00000170779	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000166183	chromatin interactions
ENSG00000203485	chromatin interactions
ENSG00000185567	chromatin interactions
ENSG00000207568	chromatin interactions
ENSG00000258701	chromatin interactions
ENSG00000185100	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563823732	chr14:105265745-105265746	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs76304864	chr14:105265751-105265752	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs181027126	chr14:105265794-105265795	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs539785097	chr14:105265810-105265811	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs148782523	chr14:105265924-105265925	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs112979667	chr14:105265948-105265949	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs548555811	chr14:105265999-105266000	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs77328206	chr14:105266062-105266063	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs67583154	chr14:105266092-105266093	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548481504	chr14:105266143-105266144	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs185108872	chr14:105266144-105266145	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs72715986	chr14:105266153-105266154	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs189525427	chr14:105266161-105266162	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs77477109	chr14:105266229-105266230	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs535152721	chr14:105266233-105266234	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs116527213	chr14:105266281-105266282	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs556625537	chr14:105266318-105266319	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs576311644	chr14:105266508-105266509	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs542228931	chr14:105266681-105266682	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs561799290	chr14:105266702-105266703	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs572041622	chr14:105266778-105266779	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs540807398	chr14:105266949-105266950	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs563987978	chr14:105266950-105266951	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs111385003	chr14:105266994-105266995	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs182614905	chr14:105267069-105267070	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs549428047	chr14:105267070-105267071	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs563402691	chr14:105267071-105267072	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs538259937	chr14:105267072-105267073	Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs528857640	chr14:105267246-105267247	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs151283963	chr14:105267264-105267265	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
31	rs568635799	chr14:105267318-105267319	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs528036812	chr14:105267354-105267355	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs555456694	chr14:105267387-105267388	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs547998033	chr14:105267418-105267419	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs185339306	chr14:105267425-105267426	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs571909528	chr14:105267478-105267479	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs112593542	chr14:105267489-105267490	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs12878684	chr14:105267579-105267580	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs369444523	chr14:105267614-105267615	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs540040740	chr14:105267634-105267635	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs556354341	chr14:105267702-105267703	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs570148369	chr14:105267715-105267716	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs191737902	chr14:105267720-105267721	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs555761454	chr14:105267801-105267802	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs572006913	chr14:105267831-105267832	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs200434987	chr14:105267925-105267926	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs34284721	chr14:105267934-105267935	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs569652332	chr14:105268004-105268005	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs10141867	chr14:105268104-105268105	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372287529	chr14:105268133-105268134	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
lymphocytic leukemia	21291569	CNVD

Chromatin state (count:600 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105261400-105266000	Weak transcription	Fetal Kidney	kidney
2	chr14:105262400-105266400	Enhancers	Spleen	Spleen
3	chr14:105262600-105265800	Weak transcription	NH-A	brain
4	chr14:105262600-105266000	Enhancers	Fetal Muscle Leg	muscle
5	chr14:105262600-105266000	Weak transcription	Osteobl	bone
6	chr14:105262600-105266200	Enhancers	Stomach Mucosa	stomach
7	chr14:105262600-105266200	Weak transcription	HMEC	breast
8	chr14:105262600-105266200	Weak transcription	HUVEC	blood vessel
9	chr14:105262600-105266400	Enhancers	Placenta	Placenta
10	chr14:105262800-105265800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:105262800-105266000	Enhancers	Adipose Nuclei	Adipose
12	chr14:105262800-105266000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:105262800-105266000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:105262800-105266200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:105262800-105266200	Weak transcription	Brain Angular Gyrus	brain
16	chr14:105262800-105266200	Weak transcription	Brain Anterior Caudate	brain
17	chr14:105262800-105266200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr14:105262800-105266200	Enhancers	Fetal Intestine Small	intestine
19	chr14:105262800-105266200	Weak transcription	Psoas Muscle	Psoas
20	chr14:105262800-105266200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr14:105262800-105266200	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr14:105262800-105266200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr14:105262800-105266200	Weak transcription	NHDF-Ad	bronchial
24	chr14:105262800-105266400	Weak transcription	Ovary	ovary
25	chr14:105262800-105266400	Weak transcription	Small Intestine	intestine
26	chr14:105263000-105265800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:105263000-105266000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:105263000-105266000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:105263000-105266000	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:105263000-105266000	Enhancers	Duodenum Mucosa	Duodenum
31	chr14:105263000-105266200	Weak transcription	Primary T cells from cord blood	blood
32	chr14:105263000-105266200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr14:105263000-105266200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:105263000-105266200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:105263000-105266200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr14:105263000-105266200	Weak transcription	Dnd41	blood
37	chr14:105263000-105267200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:105263200-105266200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr14:105263200-105266200	Weak transcription	Brain Substantia Nigra	brain
40	chr14:105263400-105266000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:105263600-105265800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:105263600-105266000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr14:105263600-105266000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr14:105263600-105266200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr14:105264000-105265800	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr14:105264000-105265800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:105264000-105266000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:105264200-105265800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr14:105264200-105265800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:105264200-105266000	Weak transcription	Left Ventricle	heart

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