Variant report

Variant	esv3405207
Chromosome Location	chr14:38062726-38066074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:671)
CpG islands
(count:915)
Chromatin interactive
region (count:44)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:38062570-38065874	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:38065271-38065427	K562	blood:	n/a	n/a
3	ATF1	chr14:38065088-38065545	K562	blood:	n/a	n/a
4	BACH1	chr14:38065596-38065808	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr14:38064935-38065230	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr14:38064346-38064563	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr14:38064974-38065220	K562	blood:	n/a	n/a
8	BCL3	chr14:38065168-38065727	A549	lung:	n/a	chr14:38065574-38065587
9	BHLHE40	chr14:38064021-38065888	HepG2	liver:	n/a	chr14:38064929-38064945 chr14:38064053-38064069 chr14:38065568-38065584
10	BHLHE40	chr14:38065019-38065504	K562	blood:	n/a	n/a
11	BHLHE40	chr14:38063317-38063788	K562	blood:	n/a	n/a
12	BHLHE40	chr14:38064034-38064506	K562	blood:	n/a	chr14:38064053-38064069
13	BHLHE40	chr14:38063300-38063721	HepG2	liver:	n/a	n/a
14	BRCA1	chr14:38064866-38064867	HepG2	liver:	n/a	n/a
15	BRCA1	chr14:38064049-38064336	HepG2	liver:	n/a	n/a
16	BRCA1	chr14:38065169-38065626	HepG2	liver:	n/a	n/a
17	BRCA1	chr14:38065028-38065362	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr14:38063097-38063799	Hela-S3	cervix:	n/a	n/a
19	CCNT2	chr14:38064876-38065569	K562	blood:	n/a	chr14:38065466-38065475
20	CCNT2	chr14:38063667-38064544	K562	blood:	n/a	n/a
21	CEBPB	chr14:38065138-38065610	HepG2	liver:	n/a	n/a
22	CEBPB	chr14:38063406-38063894	Hela-S3	cervix:	n/a	chr14:38063618-38063629
23	CEBPB	chr14:38064423-38064489	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr14:38064482-38064614	HepG2	liver:	n/a	n/a
25	CEBPB	chr14:38064988-38065817	HepG2	liver:	n/a	n/a
26	CEBPB	chr14:38064367-38065778	MCF-7	breast:	n/a	n/a
27	CEBPD	chr14:38063986-38065839	HepG2	liver:	n/a	n/a
28	CEBPD	chr14:38064131-38065690	HepG2	liver:	n/a	n/a
29	CHD1	chr14:38063425-38063845	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD1	chr14:38064812-38064962	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr14:38064019-38065564	Hela-S3	cervix:	n/a	chr14:38065391-38065401
32	CHD2	chr14:38063491-38065864	HepG2	liver:	n/a	chr14:38065391-38065401
33	CHD2	chr14:38065275-38065667	K562	blood:	n/a	chr14:38065391-38065401
34	CHD2	chr14:38064535-38064598	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr14:38063370-38063743	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr14:38064025-38064563	K562	blood:	n/a	n/a
37	CREB1	chr14:38063234-38065884	HepG2	liver:	n/a	n/a
38	CREB1	chr14:38064214-38064654	A549	lung:	n/a	n/a
39	CREB1	chr14:38065011-38065403	A549	lung:	n/a	n/a
40	CTBP2	chr14:38063545-38065794	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr14:38065380-38065530	Caco-2	colon:	n/a	n/a
42	CTCF	chr14:38063460-38063610	GM12865	blood:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
43	CTCF	chr14:38063680-38063830	GM12864	blood:	n/a	n/a
44	CTCF	chr14:38063500-38063650	HMEC	breast:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
45	CTCF	chr14:38065020-38065170	HMEC	breast:	n/a	n/a
46	CTCF	chr14:38063500-38063650	AG04450	lung:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
47	CTCF	chr14:38063168-38064063	MCF-7	breast:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
48	CTCF	chr14:38063440-38063590	HCM	heart:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
49	CTCF	chr14:38063500-38063650	HEK293	kidney:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568
50	CTCF	chr14:38063299-38063858	HepG2	liver:	n/a	chr14:38063551-38063569 chr14:38063553-38063566 chr14:38063546-38063567 chr14:38063552-38063568

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:38064849-38064899	CMK	blood:	n/a
2	chr14:38065201-38065251	Caco-2	colon:	n/a
3	chr14:38064532-38064582	SKMC	muscle:	n/a
4	chr14:38065582-38065632	A549	lung:	n/a
5	chr14:38064490-38064540	GM12891	blood:	n/a
6	chr14:38064112-38064162	SK-N-MC	brain:	n/a
7	chr14:38063813-38063863	BE2_C	brain:	n/a
8	chr14:38065127-38065177	HCPEpiC	choroid plexus:	n/a
9	chr14:38065435-38065485	HAEpiC	amniotic membrane:	n/a
10	chr14:38064513-38064563	NH-A	brain:	n/a
11	chr14:38065303-38065353	Hepatocyte	liver:	n/a
12	chr14:38065201-38065251	ECC-1	luminal epithelium:	n/a
13	chr14:38065435-38065485	IMR90	lung:	fetal
14	chr14:38064849-38064899	A549	lung:	n/a
15	chr14:38065435-38065485	HRE	kidney:	n/a
16	chr14:38064112-38064162	K562	blood:	n/a
17	chr14:38065201-38065251	HCPEpiC	choroid plexus:	n/a
18	chr14:38064849-38064899	SK-N-MC	brain:	n/a
19	chr14:38065201-38065251	AG09309	skin:	n/a
20	chr14:38064490-38064540	U87	brain:	n/a
21	chr14:38064532-38064582	H1-hESC	embryonic stem cell:	embryo
22	chr14:38064849-38064899	HL-60	blood:	n/a
23	chr14:38065303-38065353	PrEC	prostate:	n/a
24	chr14:38065582-38065632	AoSMC	blood vessel:	n/a
25	chr14:38064849-38064899	NHBE	bronchial:	n/a
26	chr14:38065582-38065632	SK-N-MC	brain:	n/a
27	chr14:38064112-38064162	HepG2	liver:	n/a
28	chr14:38065127-38065177	SK-N-SH	brain:	n/a
29	chr14:38064456-38064506	NHDF-neo	bronchial:	n/a
30	chr14:38064849-38064899	HNPCEpiC	eye:	n/a
31	chr14:38065152-38065202	HL-60	blood:	n/a
32	chr14:38065201-38065251	U87	brain:	n/a
33	chr14:38064849-38064899	H1-hESC	embryonic stem cell:	embryo
34	chr14:38064849-38064899	HUVEC	blood vessel:	n/a
35	chr14:38065201-38065251	HPAEpiC	pulmonary alveolar:	n/a
36	chr14:38064490-38064540	AG10803	skin:	n/a
37	chr14:38065582-38065632	HCM	heart:	n/a
38	chr14:38065152-38065202	NHDF-neo	bronchial:	n/a
39	chr14:38065127-38065177	MCF-7	breast:	n/a
40	chr14:38063564-38063614	GM12878	blood:	n/a
41	chr14:38065303-38065353	Jurkat	blood:	n/a
42	chr14:38064456-38064506	Caco-2	colon:	n/a
43	chr14:38065435-38065485	U87	brain:	n/a
44	chr14:38064493-38064543	A549	lung:	n/a
45	chr14:38063813-38063863	HEEpiC	esophagus:	n/a
46	chr14:38063564-38063614	GM19239	blood:	n/a
47	chr14:38064112-38064162	GM19239	blood:	n/a
48	chr14:38064490-38064540	HRCEpiC	kidney:	n/a
49	chr14:38064490-38064540	SKMC	muscle:	n/a
50	chr14:38064849-38064899	MCF10A-Er-Src	breast:	n/a

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:38035956..38036475-chr14:38064723..38065603,2	MCF-7	breast:
2	chr14:38065477..38068089-chr14:38070439..38072783,2	K562	blood:
3	chr12:52638172..52640523-chr14:38063240..38065213,2	MCF-7	breast:
4	chr14:38035755..38036301-chr14:38065026..38065953,2	MCF-7	breast:
5	chr14:37924566..37927073-chr14:38060566..38062784,2	MCF-7	breast:
6	chr1:249152224..249152732-chr14:38065328..38065950,2	MCF-7	breast:
7	chr14:38065415..38067137-chr5:156264279..156265799,2	MCF-7	breast:
8	chr14:38061292..38062805-chr14:38087179..38088948,2	MCF-7	breast:
9	chr14:38055708..38063394-chr14:38063498..38068319,8	K562	blood:
10	chr14:38061626..38064274-chr8:144362134..144365132,2	MCF-7	breast:
11	chr12:7053819..7056575-chr14:38063408..38066179,2	MCF-7	breast:
12	chr14:38064027..38066439-chr20:52209479..52211136,2	MCF-7	breast:
13	chr14:38035774..38036456-chr14:38064681..38065639,3	MCF-7	breast:
14	chr14:38063458..38065003-chr17:45607681..45609442,2	MCF-7	breast:
15	chr14:38064124..38065674-chr20:47662197..47664307,2	MCF-7	breast:
16	chr14:38063715..38066524-chr16:54963024..54965693,2	MCF-7	breast:
17	chr14:38065742..38067399-chr6:13813681..13815787,2	MCF-7	breast:
18	chr14:38064151..38065863-chr2:43452314..43453931,2	MCF-7	breast:
19	chr14:38062286..38064819-chr20:46129105..46132077,2	MCF-7	breast:
20	chr14:37708906..37733371-chr14:38048131..38068843,170	MCF-7	breast:
21	chr14:37731472..37733246-chr14:38060600..38063260,2	MCF-7	breast:
22	chr12:120729261..120730769-chr14:38062187..38064055,2	MCF-7	breast:
23	chr14:38064675..38065527-chr8:142011229..142012065,2	Hela-S3	cervix:
24	chr14:38035549..38036658-chr14:38063068..38063787,3	MCF-7	breast:
25	chr14:38062598..38064269-chr16:87798800..87800930,2	MCF-7	breast:
26	chr14:38065320..38065829-chr14:38119737..38120477,2	MCF-7	breast:
27	chr14:38065961..38068630-chr14:38077390..38079134,2	K562	blood:
28	chr14:37667184..37668809-chr14:38065579..38068114,2	MCF-7	breast:
29	chr14:37903287..37907312-chr14:38059908..38064571,5	MCF-7	breast:
30	chr14:38061973..38064113-chr8:48650908..48653008,2	MCF-7	breast:
31	chr14:21736096..21738321-chr14:38062641..38065635,3	MCF-7	breast:
32	chr14:38064014..38064548-chr15:90645261..90646074,2	MCF-7	breast:
33	chr14:37641087..37642667-chr14:38063502..38066629,3	MCF-7	breast:
34	chr14:37664939..37667912-chr14:38062947..38065316,3	MCF-7	breast:
35	chr14:37709149..37730989-chr14:38048141..38067789,135	MCF-7	breast:
36	chr14:38064575..38066712-chr14:38067823..38069498,2	K562	blood:
37	chr14:38035709..38036660-chr14:38064999..38065756,3	MCF-7	breast:
38	chr12:133136306..133139084-chr14:38062974..38065575,2	MCF-7	breast:
39	chr14:38063644..38065305-chr17:59487657..59489465,2	MCF-7	breast:
40	chr14:38061358..38063507-chr3:161089489..161091930,2	MCF-7	breast:
41	chr14:38035462..38036377-chr14:38063741..38064636,2	MCF-7	breast:
42	chr14:38065586..38067163-chr17:59765221..59767860,2	MCF-7	breast:
43	chr14:38064152..38064718-chr3:172468271..172468926,2	Hela-S3	cervix:
44	chr14:37996620..37999759-chr14:38060620..38062986,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC25A21-3	chr14:38064106-38064155	NONHSAT036465
2	lnc-SLC25A21-3	chr14:38063080-38063818	NONHSAT036465

No data

Variant related genes	Relation type
TTC6	TF binding region
FOXA1	TF binding region
TTC6	CpG island
FOXA1	CpG island
ENSG00000169398	chromatin interactions
ENSG00000111679	chromatin interactions
ENSG00000176842	chromatin interactions
ENSG00000151338	chromatin interactions
ENSG00000141279	chromatin interactions
ENSG00000114346	chromatin interactions
ENSG00000112787	chromatin interactions
ENSG00000227431	chromatin interactions
ENSG00000050393	chromatin interactions
ENSG00000207046	chromatin interactions
ENSG00000259087	chromatin interactions
ENSG00000221869	chromatin interactions
ENSG00000139865	chromatin interactions
ENSG00000171163	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000253716	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000129514	chromatin interactions
ENSG00000258708	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000124207	chromatin interactions
ENSG00000171940	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000092199	chromatin interactions
ENSG00000183032	chromatin interactions
ENSG00000182054	chromatin interactions
ENSG00000152518	chromatin interactions
ENSG00000259685	chromatin interactions
ENSG00000245694	chromatin interactions
ENSG00000104731	chromatin interactions
ENSG00000135480	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72674251	chr14:38062732-38062733	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374788075	chr14:38062800-38062801	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs116493763	chr14:38062807-38062808	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs558619669	chr14:38062811-38062812	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs578059308	chr14:38062827-38062828	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs115920000	chr14:38062888-38062889	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs79596721	chr14:38062907-38062908	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs372582504	chr14:38062955-38062956	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs574140374	chr14:38063065-38063066	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs79686301	chr14:38063081-38063082	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
11	rs563093883	chr14:38063097-38063098	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
12	rs78162444	chr14:38063107-38063108	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
13	rs1057536	chr14:38063120-38063121	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs565263833	chr14:38063151-38063152	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
15	rs375108055	chr14:38063297-38063298	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
16	rs527998033	chr14:38063332-38063333	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
17	rs546956059	chr14:38063446-38063447	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
18	rs74589787	chr14:38063466-38063467	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
19	rs200108101	chr14:38063531-38063532	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
20	rs5807961	chr14:38063536-38063537	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
21	rs566935420	chr14:38063548-38063549	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
22	rs536300275	chr14:38063817-38063818	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
23	rs549659752	chr14:38063845-38063846	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
24	rs569824520	chr14:38063890-38063891	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
25	rs538494579	chr14:38063966-38063967	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
26	rs762083	chr14:38064009-38064010	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374253334	chr14:38064082-38064083	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
28	rs565953872	chr14:38064091-38064092	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
29	rs111653828	chr14:38064104-38064105	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
30	rs139801655	chr14:38064109-38064110	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
31	rs368662752	chr14:38064112-38064113	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
32	rs371235829	chr14:38064189-38064190	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
33	rs375697714	chr14:38064193-38064194	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
34	rs200816963	chr14:38064196-38064197	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
35	rs79519281	chr14:38064215-38064216	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
36	rs370085229	chr14:38064238-38064239	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
37	rs556415796	chr14:38064243-38064244	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
38	rs576556723	chr14:38064291-38064292	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
39	rs545243356	chr14:38064324-38064325	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
40	rs565154616	chr14:38064326-38064327	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
41	rs546145599	chr14:38064348-38064349	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
42	rs527938833	chr14:38064356-38064357	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
43	rs541329446	chr14:38064461-38064462	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
44	rs560543143	chr14:38064488-38064489	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
45	rs7141052	chr14:38064535-38064536	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
46	rs529699575	chr14:38064599-38064600	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
47	rs549834556	chr14:38064602-38064603	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
48	rs569681558	chr14:38064631-38064632	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
49	rs532257990	chr14:38064645-38064646	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
50	rs10400689	chr14:38064738-38064739	Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:59)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38053400-38062800	Weak transcription	Hela-S3	cervix
2	chr14:38056200-38065600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
3	chr14:38056400-38066000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
4	chr14:38057000-38065400	Active TSS	Liver	Liver
5	chr14:38059600-38063200	Bivalent/Poised TSS	Stomach Mucosa	stomach
6	chr14:38059800-38065600	Active TSS	A549	lung
7	chr14:38060000-38063200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
8	chr14:38060400-38064000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr14:38060600-38064000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
10	chr14:38061400-38063200	Bivalent/Poised TSS	Fetal Stomach	stomach
11	chr14:38061600-38062800	Active TSS	Esophagus	oesophagus
12	chr14:38061800-38064600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr14:38062200-38063000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:38062200-38063000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
15	chr14:38062200-38063400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:38062200-38063400	Bivalent/Poised TSS	Fetal Lung	lung
17	chr14:38062200-38063600	Weak transcription	Pancreas	Pancrea
18	chr14:38062400-38063400	Weak transcription	Gastric	stomach
19	chr14:38062400-38063600	Weak transcription	Lung	lung
20	chr14:38062400-38064000	Active TSS	Colonic Mucosa	Colon
21	chr14:38062400-38064400	Active TSS	Small Intestine	intestine
22	chr14:38062400-38065200	Active TSS	Rectal Mucosa Donor 31	rectum
23	chr14:38062600-38062800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:38062600-38062800	Active TSS	HepG2	liver
25	chr14:38062800-38063000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:38062800-38063200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:38062800-38063200	Flanking Active TSS	Hela-S3	cervix
28	chr14:38062800-38063400	Bivalent Enhancer	NHEK	skin
29	chr14:38062800-38063600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr14:38062800-38063600	Bivalent/Poised TSS	Esophagus	oesophagus
31	chr14:38062800-38065600	Bivalent/Poised TSS	HepG2	liver
32	chr14:38062800-38065600	Active TSS	K562	blood
33	chr14:38063000-38063400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:38063000-38065600	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr14:38063200-38063400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:38063200-38063400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
37	chr14:38063200-38063400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr14:38063200-38063400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:38063200-38063400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:38063200-38063400	Bivalent Enhancer	Brain Anterior Caudate	brain
41	chr14:38063200-38063400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr14:38063200-38063400	Enhancers	HMEC	breast
43	chr14:38063200-38063600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:38063200-38063600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
45	chr14:38063200-38063800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
46	chr14:38063200-38063800	Active TSS	Stomach Mucosa	stomach
47	chr14:38063200-38065200	Active TSS	Duodenum Mucosa	Duodenum
48	chr14:38063200-38065400	Active TSS	Hela-S3	cervix
49	chr14:38063200-38065600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
50	chr14:38063400-38063600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links