Variant report

Variant	nsv1035833
Chromosome Location	chr14:65176371-65246181
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2141)
CpG islands
(count:2017)
Chromatin interactive
region (count:150)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2141 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr14:65222697-65222909	K562	blood:	n/a	n/a
2	ATF1	chr14:65187156-65187294	K562	blood:	n/a	n/a
3	ATF1	chr14:65190974-65191098	K562	blood:	n/a	n/a
4	ATF2	chr14:65183417-65183846	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr14:65183392-65183883	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr14:65182112-65182714	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr14:65182154-65182687	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr14:65203111-65203470	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr14:65186871-65187451	A549	lung:	n/a	n/a
10	BACH1	chr14:65231659-65231671	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr14:65184688-65185006	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL11A	chr14:65192188-65192423	GM12878	blood:	n/a	n/a
13	BCL11A	chr14:65182225-65182539	H1-hESC	embryonic stem cell:	n/a	n/a
14	BCL11A	chr14:65182258-65182456	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL3	chr14:65232596-65232902	GM12878	blood:	n/a	n/a
16	BCL3	chr14:65231105-65231743	A549	lung:	n/a	n/a
17	BCL3	chr14:65232702-65233000	GM12878	blood:	n/a	n/a
18	BCL3	chr14:65225361-65226330	A549	lung:	n/a	chr14:65225667-65225674
19	BCL3	chr14:65219815-65220609	A549	lung:	n/a	n/a
20	BCL3	chr14:65228493-65229464	A549	lung:	n/a	chr14:65228768-65228781
21	BCL3	chr14:65231224-65231747	A549	lung:	n/a	n/a
22	BCL3	chr14:65222227-65222783	A549	lung:	n/a	n/a
23	BCL3	chr14:65229717-65230125	K562	blood:	n/a	n/a
24	BCL3	chr14:65223458-65224513	A549	lung:	n/a	n/a
25	BCL3	chr14:65221221-65222820	A549	lung:	n/a	chr14:65221764-65221773
26	BCL3	chr14:65228416-65229594	A549	lung:	n/a	chr14:65228768-65228781 chr14:65228417-65228425
27	BHLHE40	chr14:65231634-65231789	K562	blood:	n/a	n/a
28	BHLHE40	chr14:65231495-65231729	GM12878	blood:	n/a	n/a
29	BHLHE40	chr14:65227094-65227097	K562	blood:	n/a	n/a
30	BHLHE40	chr14:65242193-65242390	K562	blood:	n/a	n/a
31	BHLHE40	chr14:65230459-65230752	HepG2	liver:	n/a	n/a
32	BHLHE40	chr14:65230576-65230669	GM12878	blood:	n/a	n/a
33	BHLHE40	chr14:65222422-65222655	K562	blood:	n/a	n/a
34	BHLHE40	chr14:65188221-65188515	GM12878	blood:	n/a	n/a
35	BRCA1	chr14:65231556-65231709	HepG2	liver:	n/a	n/a
36	BRCA1	chr14:65231615-65231794	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr14:65222483-65222888	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr14:65228448-65229294	Hela-S3	cervix:	n/a	n/a
39	BRCA1	chr14:65231545-65231817	H1-hESC	embryonic stem cell:	n/a	n/a
40	CBX3	chr14:65186785-65187415	HCT-116	colon:	n/a	n/a
41	CEBPB	chr14:65212113-65212387	IMR90	lung:	n/a	n/a
42	CEBPB	chr14:65196068-65196382	A549	lung:	n/a	chr14:65196220-65196229 chr14:65196218-65196231 chr14:65196218-65196231 chr14:65196218-65196229 chr14:65196220-65196231
43	CEBPB	chr14:65183461-65183658	HepG2	liver:	n/a	n/a
44	CEBPB	chr14:65231514-65231726	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr14:65203162-65203471	HepG2	liver:	n/a	chr14:65203304-65203315
46	CEBPB	chr14:65196069-65196350	IMR90	lung:	n/a	chr14:65196220-65196229 chr14:65196218-65196231 chr14:65196218-65196231 chr14:65196218-65196229 chr14:65196220-65196231
47	CEBPB	chr14:65225249-65225889	MCF-7	breast:	n/a	chr14:65225567-65225584
48	CEBPB	chr14:65203267-65203395	K562	blood:	n/a	chr14:65203304-65203315
49	CEBPB	chr14:65183260-65183803	MCF-7	breast:	n/a	n/a
50	CEBPB	chr14:65225354-65225961	IMR90	lung:	n/a	chr14:65225567-65225584

(count:2017 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:65241834-65241884	HRPEpiC	eye:	n/a
2	chr14:65239943-65239993	HCM	heart:	n/a
3	chr14:65228827-65228877	RPTEC	kidney:	n/a
4	chr14:65237663-65237713	LNCaP	prostate:	n/a
5	chr14:65241834-65241884	HRPEpiC	eye:	n/a
6	chr14:65239943-65239993	HCM	heart:	n/a
7	chr14:65228827-65228877	RPTEC	kidney:	n/a
8	chr14:65237663-65237713	LNCaP	prostate:	n/a
9	chr14:65239943-65239993	HCPEpiC	choroid plexus:	n/a
10	chr14:65216504-65216554	HAEpiC	amniotic membrane:	n/a
11	chr14:65239943-65239993	HUVEC	blood vessel:	n/a
12	chr14:65187054-65187104	NHBE	bronchial:	n/a
13	chr14:65209844-65209894	Caco-2	colon:	n/a
14	chr14:65185328-65185378	HPAEpiC	pulmonary alveolar:	n/a
15	chr14:65185328-65185378	HEEpiC	esophagus:	n/a
16	chr14:65233334-65233384	T-47D	breast:	n/a
17	chr14:65215814-65215864	NB4	blood:	n/a
18	chr14:65214540-65214590	PrEC	prostate:	n/a
19	chr14:65228827-65228877	HPAEpiC	pulmonary alveolar:	n/a
20	chr14:65210900-65210950	SK-N-SH	brain:	n/a
21	chr14:65215814-65215864	HEEpiC	esophagus:	n/a
22	chr14:65209977-65210027	U87	brain:	n/a
23	chr14:65215814-65215864	GM06990	blood:	n/a
24	chr14:65241834-65241884	BE2_C	brain:	n/a
25	chr14:65236134-65236184	MCF10A-Er-Src	breast:	n/a
26	chr14:65208817-65208867	MCF-7	breast:	n/a
27	chr14:65187054-65187104	HCPEpiC	choroid plexus:	n/a
28	chr14:65216005-65216055	GM12892	blood:	n/a
29	chr14:65241834-65241884	AG10803	skin:	n/a
30	chr14:65216005-65216055	Hepatocyte	liver:	n/a
31	chr14:65210080-65210130	HAEpiC	amniotic membrane:	n/a
32	chr14:65239943-65239993	SAEC	small airway:	n/a
33	chr14:65203330-65203380	HAEpiC	amniotic membrane:	n/a
34	chr14:65215912-65215962	IMR90	lung:	fetal
35	chr14:65210900-65210950	HL-60	blood:	n/a
36	chr14:65210088-65210138	GM06990	blood:	n/a
37	chr14:65230287-65230337	AG04449	skin:	fetal
38	chr14:65187054-65187104	AG10803	skin:	n/a
39	chr14:65236134-65236184	SK-N-MC	brain:	n/a
40	chr14:65230287-65230337	SK-N-SH_RA	brain:	n/a
41	chr14:65213478-65213528	HL-60	blood:	n/a
42	chr14:65207699-65207749	A549	lung:	n/a
43	chr14:65187054-65187104	HCT-116	colon:	n/a
44	chr14:65240980-65241030	HRCEpiC	kidney:	n/a
45	chr14:65233334-65233384	AG04450	lung:	fetal
46	chr14:65233334-65233384	GM06990	blood:	n/a
47	chr14:65213478-65213528	HPAEpiC	pulmonary alveolar:	n/a
48	chr14:65216504-65216554	HEEpiC	esophagus:	n/a
49	chr14:65228827-65228877	HCT-116	colon:	n/a
50	chr14:65208817-65208867	AG04450	lung:	fetal

(count:150 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr14:65212266..65214655-chr14:65220230..65222860,3	MCF-7	breast:
2	chr14:65239361..65240038-chr14:65257073..65257791,2	MCF-7	breast:
3	chr14:65226282..65227169-chr14:65450174..65450950,2	MCF-7	breast:
4	chr14:65221170..65226335-chr14:65227109..65232798,8	MCF-7	breast:
5	chr14:65221708..65223520-chr14:65425560..65427904,2	MCF-7	breast:
6	chr14:65231204..65233670-chr14:65243872..65245658,2	MCF-7	breast:
7	chr14:65148900..65150464-chr14:65186037..65188877,2	MCF-7	breast:
8	chr14:65181414..65183805-chr14:65210426..65213903,3	MCF-7	breast:
9	chr14:65207698..65210680-chr14:65221947..65223874,2	K562	blood:
10	chr14:65236406..65238407-chr14:65243538..65245205,2	MCF-7	breast:
11	chr14:65242147..65244989-chr14:65249995..65252297,2	K562	blood:
12	chr14:64970264..64972262-chr14:65225549..65227652,2	MCF-7	breast:
13	chr14:65187766..65189272-chr14:65190644..65193046,2	K562	blood:
14	chr14:65191318..65193441-chr14:65221320..65224272,2	MCF-7	breast:
15	chr14:65205157..65207036-chr14:65211800..65213605,2	MCF-7	breast:
16	chr14:65196332..65199526-chr14:65204522..65207283,4	MCF-7	breast:
17	chr14:65137937..65138882-chr14:65212182..65213063,6	MCF-7	breast:
18	chr14:65171254..65174488-chr14:65196605..65199995,3	MCF-7	breast:
19	chr14:65197276..65199503-chr14:65210432..65212746,2	MCF-7	breast:
20	chr14:65220335..65220855-chr2:133012578..133013363,2	MCF-7	breast:
21	chr14:65238855..65239748-chr14:65266872..65267431,2	MCF-7	breast:
22	chr14:65219332..65221350-chr14:65225849..65228107,2	K562	blood:
23	chr14:65226702..65228507-chr14:65232597..65235151,2	MCF-7	breast:
24	chr14:65228571..65230155-chr14:65235739..65238455,2	K562	blood:
25	chr14:65195829..65198759-chr14:65228499..65232345,3	MCF-7	breast:
26	chr14:65147226..65148769-chr14:65215008..65216811,2	MCF-7	breast:
27	chr14:65193061..65195371-chr14:65207484..65209223,2	MCF-7	breast:
28	chr14:64970276..64971997-chr14:65229092..65230792,2	K562	blood:
29	chr14:65229032..65230764-chr14:65380772..65382305,2	MCF-7	breast:
30	chr14:65195242..65196824-chr14:65201352..65202977,2	MCF-7	breast:
31	chr14:65228571..65230155-chr14:65235739..65238455,2	K562	blood:
32	chr14:65236406..65238407-chr14:65243538..65245205,2	MCF-7	breast:
33	chr14:65193061..65195371-chr14:65207484..65209223,2	MCF-7	breast:
34	chr14:65174479..65176413-chr14:65184169..65186446,2	K562	blood:
35	chr14:65173952..65176818-chr14:65213044..65215895,2	MCF-7	breast:
36	chr14:65182060..65184778-chr14:65193626..65195204,2	MCF-7	breast:
37	chr14:65211034..65213398-chr14:65224947..65227987,3	MCF-7	breast:
38	chr14:65182036..65184800-chr14:65187210..65189994,3	MCF-7	breast:
39	chr14:65243489..65248143-chr14:65249135..65251495,4	K562	blood:
40	chr14:65170123..65171910-chr14:65210680..65212434,2	MCF-7	breast:
41	chr14:64970497..64972286-chr14:65229092..65231234,2	K562	blood:
42	chr14:65228105..65228698-chr2:174886879..174887729,2	MCF-7	breast:
43	chr14:65192290..65195649-chr14:65222693..65231374,9	MCF-7	breast:
44	chr14:65174479..65176413-chr14:65184169..65186446,2	K562	blood:
45	chr14:65225623..65228058-chr14:65230939..65232636,2	K562	blood:
46	chr14:65228067..65229645-chr14:65348002..65349763,2	K562	blood:
47	chr14:65168529..65178400-chr14:65179583..65195815,52	MCF-7	breast:
48	chr14:65185854..65191054-chr14:65221241..65225762,8	MCF-7	breast:
49	chr14:65138592..65140467-chr14:65210995..65212825,2	MCF-7	breast:
50	chr14:65232750..65234740-chr14:65252170..65254812,2	MCF-7	breast:

No data

Variant related genes	Relation type
SPTB	TF binding region
PLEKHG3	TF binding region
SPTB	CpG island
PLEKHG3	CpG island
ENSG00000259116	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000070182	chromatin interactions
ENSG00000126804	chromatin interactions
ENSG00000089775	chromatin interactions
ENSG00000139998	chromatin interactions
ENSG00000126803	chromatin interactions
ENSG00000258289	chromatin interactions
ENSG00000125954	chromatin interactions
ENSG00000126461	chromatin interactions
ENSG00000126822	chromatin interactions

Extended variants
information (count: 3151 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3151 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75551979	chr14:65176421-65176422	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs559111179	chr14:65176429-65176430	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs3223419	chr14:65176447-65176448	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs201724045	chr14:65176448-65176449	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373574091	chr14:65176450-65176451	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs559610665	chr14:65176469-65176470	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs66576266	chr14:65176473-65176474	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs3063746	chr14:65176478-65176479	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs3063750	chr14:65176484-65176485	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs76671223	chr14:65176489-65176490	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs572239736	chr14:65176494-65176495	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs117331452	chr14:65176510-65176511	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs185633016	chr14:65176513-65176514	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs145359265	chr14:65176514-65176515	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs550216816	chr14:65176520-65176521	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs190147918	chr14:65176531-65176532	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs732311	chr14:65176569-65176570	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs200295564	chr14:65176586-65176587	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs200669298	chr14:65176587-65176588	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs375699451	chr14:65176618-65176619	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs181681791	chr14:65176620-65176621	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs185467579	chr14:65176656-65176657	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs137858907	chr14:65176680-65176681	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs539160913	chr14:65176694-65176695	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs140824477	chr14:65176721-65176722	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs188373091	chr14:65176801-65176802	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs537002903	chr14:65176806-65176807	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs566649620	chr14:65176860-65176861	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs113282365	chr14:65176861-65176862	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs229658	chr14:65176885-65176886	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
31	rs539331267	chr14:65176903-65176904	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs10147757	chr14:65176920-65176921	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569024500	chr14:65176987-65176988	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572673106	chr14:65176995-65176996	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs541142921	chr14:65177000-65177001	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs551064622	chr14:65177018-65177019	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs376933700	chr14:65177031-65177032	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs555006947	chr14:65177044-65177045	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs574744793	chr14:65177100-65177101	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543838729	chr14:65177113-65177114	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs563529019	chr14:65177114-65177115	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs116066730	chr14:65177159-65177160	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs181240720	chr14:65177177-65177178	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs369556142	chr14:65177178-65177179	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs10138034	chr14:65177202-65177203	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs10138311	chr14:65177217-65177218	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533322003	chr14:65177258-65177259	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs568190173	chr14:65177266-65177267	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs150679041	chr14:65177273-65177274	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs113223824	chr14:65177346-65177347	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Hematopoietic stem cell	20738155	CNVD
Cancer	17440070	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2958 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65170000-65176600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr14:65171800-65177200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr14:65172400-65176800	Enhancers	Small Intestine	intestine
4	chr14:65172800-65176400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:65172800-65176400	Enhancers	Stomach Mucosa	stomach
6	chr14:65172800-65178000	Enhancers	Fetal Heart	heart
7	chr14:65173000-65176400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr14:65173000-65177000	Enhancers	Pancreas	Pancrea
9	chr14:65173000-65177000	Enhancers	Right Atrium	heart
10	chr14:65173000-65177600	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr14:65173200-65176400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:65173200-65177000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:65173200-65178000	Enhancers	Spleen	Spleen
14	chr14:65173400-65178000	Enhancers	Adipose Nuclei	Adipose
15	chr14:65173600-65176400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:65173600-65176400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:65173800-65176400	Genic enhancers	Fetal Stomach	stomach
18	chr14:65173800-65176800	Enhancers	Esophagus	oesophagus
19	chr14:65173800-65178000	Enhancers	Ovary	ovary
20	chr14:65173800-65179000	Enhancers	Liver	Liver
21	chr14:65174000-65176400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:65174200-65176400	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr14:65174400-65176800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:65174400-65178000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr14:65174600-65176800	Enhancers	Gastric	stomach
26	chr14:65174600-65177000	Weak transcription	Aorta	Aorta
27	chr14:65174800-65176600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:65174800-65176800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr14:65174800-65177000	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr14:65175000-65176600	Enhancers	Primary B cells from peripheral blood	blood
31	chr14:65175000-65176800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:65175000-65177000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:65175000-65178000	Enhancers	Left Ventricle	heart
34	chr14:65175200-65176400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:65175200-65176400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:65175200-65176400	Enhancers	HepG2	liver
37	chr14:65175200-65178600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:65175200-65181000	Weak transcription	Hela-S3	cervix
39	chr14:65175200-65181800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr14:65175400-65176400	Enhancers	NH-A	brain
41	chr14:65175400-65177000	Genic enhancers	Fetal Intestine Small	intestine
42	chr14:65175400-65177200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr14:65175600-65176400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr14:65175600-65176400	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr14:65175600-65176400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr14:65175600-65176400	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr14:65175600-65176400	Enhancers	Fetal Thymus	thymus
48	chr14:65175600-65176800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr14:65175600-65176800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:65175600-65176800	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links