Variant report

Variant	rs4982914
Chromosome Location	chr14:24912403-24912404
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:203)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:203 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24903461-24912546	GM12892	blood:	n/a	n/a
2	POLR2A	chr14:24911115-24912468	H1-hESC	embryonic stem cell:	n/a	n/a
3	FOXA2	chr14:24911781-24912429	A549	lung:	n/a	n/a
4	GABPA	chr14:24911063-24912610	MCF-7	breast:	n/a	chr14:24911992-24912003 chr14:24911992-24912006 chr14:24912044-24912058 chr14:24912047-24912058
5	ELF1	chr14:24911192-24912471	HepG2	liver:	n/a	chr14:24911886-24911895 chr14:24911887-24911896
6	POLR2A	chr14:24911149-24912453	HUVEC	blood vessel:	n/a	n/a
7	TBP	chr14:24911389-24912665	HepG2	liver:	n/a	n/a
8	TEAD4	chr14:24911549-24912430	K562	blood:	n/a	n/a
9	POLR2A	chr14:24911139-24912669	Hela-S3	cervix:	n/a	n/a
10	SIN3A	chr14:24911189-24912481	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr14:24910478-24912449	Hela-S3	cervix:	n/a	n/a
12	JUND	chr14:24911070-24912454	HepG2	liver:	n/a	n/a
13	EP300	chr14:24911788-24912409	GM12878	blood:	n/a	n/a
14	POLR2A	chr14:24905485-24912569	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr14:24910801-24912429	U87	brain:	n/a	n/a
16	POLR2A	chr14:24905933-24912504	MCF-7	breast:	n/a	n/a
17	RELA	chr14:24911284-24912434	GM10847	blood:	n/a	n/a
18	TAF1	chr14:24912031-24912405	GM12878	blood:	n/a	n/a
19	HEY1	chr14:24911399-24912457	K562	blood:	n/a	n/a
20	MAX	chr14:24910938-24912435	HCT-116	colon:	n/a	n/a
21	POLR2A	chr14:24911235-24912445	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:24911044-24912459	PFSK-1	brain:	n/a	n/a
23	USF1	chr14:24911153-24912428	A549	lung:	n/a	n/a
24	POU2F2	chr14:24911543-24912427	GM12891	blood:	n/a	n/a
25	SIN3AK20	chr14:24911183-24912612	MCF-7	breast:	n/a	n/a
26	TAF1	chr14:24911595-24912438	K562	blood:	n/a	n/a
27	USF1	chr14:24911132-24912420	HCT-116	colon:	n/a	n/a
28	HDAC2	chr14:24911090-24912456	HepG2	liver:	n/a	n/a
29	POLR2A	chr14:24903683-24913003	HepG2	liver:	n/a	n/a
30	POLR2A	chr14:24911022-24912428	GM12892	blood:	n/a	n/a
31	TBP	chr14:24911530-24912504	GM12878	blood:	n/a	n/a
32	POLR2A	chr14:24905442-24912440	HepG2	liver:	n/a	n/a
33	POLR2A	chr14:24911136-24912496	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr14:24910917-24912589	HUVEC	blood vessel:	n/a	n/a
35	TBP	chr14:24911165-24912454	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr14:24910986-24912822	IMR90	lung:	n/a	n/a
37	NFIC	chr14:24910940-24912945	HepG2	liver:	n/a	n/a
38	MAX	chr14:24911021-24912418	MCF-7	breast:	n/a	n/a
39	POLR2A	chr14:24903880-24912404	K562	blood:	n/a	n/a
40	TAF1	chr14:24911305-24912447	Hela-S3	cervix:	n/a	n/a
41	HEY1	chr14:24911130-24912515	HepG2	liver:	n/a	n/a
42	POLR2A	chr14:24911300-24912425	K562	blood:	n/a	n/a
43	IRF1	chr14:24911013-24912422	K562	blood:	n/a	n/a
44	ATF2	chr14:24911439-24912414	GM12878	blood:	n/a	n/a
45	POLR2A	chr14:24910760-24912648	H1-hESC	embryonic stem cell:	n/a	n/a
46	BHLHE40	chr14:24911419-24912438	GM12878	blood:	n/a	n/a
47	TAF1	chr14:24911689-24912404	GM12891	blood:	n/a	n/a
48	SIX5	chr14:24911460-24912514	A549	lung:	n/a	n/a
49	POLR2A	chr14:24909511-24912466	HCT-116	colon:	n/a	n/a
50	MAX	chr14:24910965-24912771	HCT-116	colon:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24836714..24839783-chr14:24910555..24913487,3	K562	blood:
2	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
3	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
4	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
5	chr14:24767332..24771774-chr14:24910139..24913002,7	MCF-7	breast:
6	chr14:24738849..24740758-chr14:24911753..24913964,2	MCF-7	breast:
7	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
8	chr14:24709335..24712189-chr14:24910783..24914037,3	K562	blood:
9	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
10	chr14:24767708..24770495-chr14:24910481..24913051,4	MCF-7	breast:
11	chr14:24740526..24742309-chr14:24912224..24913797,2	K562	blood:
12	chr14:24800598..24804207-chr14:24909756..24912911,5	K562	blood:
13	chr14:24912076..24912697-chr19:49990472..49990986,2	NB4	blood:
14	chr14:24911539..24912418-chr16:9185072..9185743,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
SDR39U1	TF binding region
ENSG00000207141	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000182831	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000142541	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000258973	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10083368	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs10083382	0.87[JPT][hapmap];0.84[MEX][hapmap]
rs10083509	0.87[JPT][hapmap];0.84[MEX][hapmap]
rs10129168	0.87[JPT][hapmap]
rs10133116	0.87[JPT][hapmap]
rs10133998	0.87[JPT][hapmap]
rs10140911	0.83[CHD][hapmap];0.87[JPT][hapmap]
rs10143987	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1043831	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1043839	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158703	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158704	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158705	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158706	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158707	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158709	0.85[MKK][hapmap]
rs11621453	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621715	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626161	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627132	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11627137	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11628143	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12433369	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12433402	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12879887	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12882878	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12884447	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12897925	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1473725	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17103735	0.87[JPT][hapmap]
rs17103743	0.87[JPT][hapmap];0.84[MEX][hapmap]
rs17103869	0.87[JPT][hapmap]
rs17103960	0.87[JPT][hapmap]
rs17104012	0.83[CHD][hapmap];0.87[JPT][hapmap]
rs17184822	0.92[CEU][hapmap];0.87[TSI][hapmap]
rs1951123	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1951137	0.81[JPT][hapmap]
rs1956892	0.86[YRI][hapmap]
rs1956893	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1956896	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1956898	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1956899	0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1956901	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1956903	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1956904	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2073335	0.81[JPT][hapmap]
rs2273628	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277489	0.92[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2332333	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2332334	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3211056	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742521	0.87[JPT][hapmap]
rs3809	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814810	0.85[JPT][hapmap]
rs4278673	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4290409	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4390517	0.83[MKK][hapmap]
rs4400972	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4433735	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4640100	0.85[MKK][hapmap]
rs4981518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981519	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981521	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981522	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981523	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981524	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982913	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982916	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982918	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4982919	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4982924	0.86[YRI][hapmap]
rs4982925	0.85[MKK][hapmap];0.86[YRI][hapmap]
rs4982926	0.86[YRI][hapmap]
rs712487	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142374	0.85[JPT][hapmap]
rs7143327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7144118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7148891	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7149743	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7151530	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7157349	0.86[JPT][hapmap]
rs737245	0.87[JPT][hapmap]
rs737246	0.83[CHD][hapmap];0.87[JPT][hapmap]
rs737247	0.87[JPT][hapmap]
rs737248	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8008300	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8013991	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs8015535	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966493	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1053330	chr14:24908047-24993666	Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	n/a
4	nsv564061	chr14:24911138-24945331	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	n/a

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4982914	SDR39U1	cis	Skin Sun Exposed Lower leg	GTEx
rs4982914	C14orf124	Cis_1M	lymphoblastoid	RTeQTL
rs4982914	SDR39U1	cis	Whole Blood	GTEx
rs4982914	SDR39U1	cis	Muscle Skeletal	GTEx
rs4982914	JPH4	cis	parietal	SCAN
rs4982914	SDR39U1	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24910600-24913000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:24910800-24912800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:24910800-24913000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:24910800-24913000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:24910800-24913000	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr14:24910800-24913200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr14:24911000-24912800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:24911000-24912800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:24911000-24912800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:24911000-24912800	Active TSS	Aorta	Aorta
11	chr14:24911000-24912800	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr14:24911000-24913000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr14:24911000-24913000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr14:24911000-24913000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr14:24911000-24913000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:24911000-24913000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:24911000-24913000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:24911000-24913000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:24911000-24913000	Active TSS	Psoas Muscle	Psoas
20	chr14:24911000-24913000	Active TSS	A549	lung
21	chr14:24911000-24913000	Active TSS	NHLF	lung
22	chr14:24911000-24913200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:24911000-24913200	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr14:24911000-24913200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:24911200-24912600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:24911200-24912600	Active TSS	Fetal Brain Male	brain
27	chr14:24911200-24912600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr14:24911200-24912600	Active TSS	Ovary	ovary
29	chr14:24911200-24912600	Active TSS	NH-A	brain
30	chr14:24911200-24912600	Active TSS	Osteobl	bone
31	chr14:24911200-24912800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:24911200-24912800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:24911200-24912800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr14:24911200-24912800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr14:24911200-24912800	Active TSS	Lung	lung
36	chr14:24911200-24912800	Active TSS	HMEC	breast
37	chr14:24911200-24913000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:24911200-24913000	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr14:24911200-24913000	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr14:24911200-24913000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:24911200-24913200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:24911200-24913200	Active TSS	HSMM	muscle
43	chr14:24911400-24912600	Active TSS	Primary hematopoietic stem cells short term culture	blood
44	chr14:24911400-24912600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr14:24911400-24912600	Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr14:24911400-24912600	Active TSS	Muscle Satellite Cultured Cells	--
47	chr14:24911400-24912600	Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr14:24911400-24912600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:24911400-24912600	Active TSS	Liver	Liver
50	chr14:24911400-24912600	Active TSS	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links