Variant report

Variant	rs3747479
Chromosome Location	chr5:44809162-44809163
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:402)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr5:44808619-44809331	K562	blood:	n/a	n/a
2	POLR2A	chr5:44808676-44809205	HepG2	liver:	n/a	n/a
3	GABPA	chr5:44808533-44809403	A549	lung:	n/a	chr5:44808982-44808989
4	ELK1	chr5:44808680-44809719	Hela-S3	cervix:	n/a	n/a
5	ELF1	chr5:44808758-44809787	GM12878	blood:	n/a	n/a
6	TRIM28	chr5:44808623-44809587	K562	blood:	n/a	n/a
7	POLR2A	chr5:44808623-44815570	K562	blood:	n/a	n/a
8	POLR2A	chr5:44808731-44809273	HepG2	liver:	n/a	n/a
9	CEBPB	chr5:44808729-44809224	ECC-1	luminal epithelium:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
10	POLR2A	chr5:44808635-44809348	U87	brain:	n/a	n/a
11	POLR2A	chr5:44808654-44809707	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr5:44808931-44809659	A549	lung:	n/a	n/a
13	POLR2A	chr5:44808779-44809976	GM12878	blood:	n/a	n/a
14	MYC	chr5:44808648-44810406	NB4	blood:	n/a	chr5:44810041-44810051
15	ELF1	chr5:44808645-44809279	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:44808700-44810063	HEK293	kidney:	n/a	n/a
17	TAF1	chr5:44808801-44809414	H1-neurons	neurons:	n/a	n/a
18	SIN3AK20	chr5:44808735-44810199	K562	blood:	n/a	n/a
19	NR2F2	chr5:44808638-44809384	HepG2	liver:	n/a	chr5:44809031-44809046
20	MAX	chr5:44808658-44810191	Hela-S3	cervix:	n/a	chr5:44810041-44810051
21	TCF7L2	chr5:44808702-44809413	PANC-1	pancreas:	n/a	n/a
22	POLR2A	chr5:44808639-44809366	GM12891	blood:	n/a	n/a
23	TEAD4	chr5:44808709-44809217	HepG2	liver:	n/a	n/a
24	TAF1	chr5:44808928-44809648	HepG2	liver:	n/a	n/a
25	RCOR1	chr5:44808643-44810217	K562	blood:	n/a	n/a
26	POLR2A	chr5:44808687-44809198	SK-N-SH	brain:	n/a	n/a
27	TCF7L2	chr5:44808782-44809782	HCT-116	colon:	n/a	n/a
28	POLR2A	chr5:44808689-44810092	K562	blood:	n/a	n/a
29	GABPA	chr5:44808471-44809916	MCF-7	breast:	n/a	chr5:44808982-44808989
30	TCF12	chr5:44808942-44809182	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr5:44808665-44810156	K562	blood:	n/a	n/a
32	POLR2A	chr5:44808673-44810329	K562	blood:	n/a	n/a
33	POLR2A	chr5:44808663-44809276	HCT-116	colon:	n/a	n/a
34	YY1	chr5:44808758-44809580	GM12891	blood:	n/a	chr5:44809054-44809074 chr5:44809060-44809072
35	CBX3	chr5:44808529-44809395	HCT-116	colon:	n/a	n/a
36	ELF1	chr5:44808707-44809828	MCF-7	breast:	n/a	n/a
37	ZNF143	chr5:44808684-44810042	Hela-S3	cervix:	n/a	n/a
38	REST	chr5:44808499-44810381	H1-neurons	neurons:	n/a	n/a
39	RCOR1	chr5:44808597-44810102	K562	blood:	n/a	n/a
40	MAX	chr5:44808709-44809758	SK-N-SH	brain:	n/a	n/a
41	SP1	chr5:44808583-44809389	HCT-116	colon:	n/a	chr5:44808981-44809002 chr5:44808940-44808950
42	YY1	chr5:44808919-44809174	K562	blood:	n/a	chr5:44809054-44809074 chr5:44809060-44809072
43	POLR2A	chr5:44808716-44809740	GM12878	blood:	n/a	n/a
44	ETS1	chr5:44808734-44809351	K562	blood:	n/a	n/a
45	RUNX3	chr5:44808672-44809652	GM12878	blood:	n/a	n/a
46	POLR2A	chr5:44808605-44809354	U87	brain:	n/a	n/a
47	ARID3A	chr5:44808606-44809530	HepG2	liver:	n/a	n/a
48	REST	chr5:44808932-44809218	A549	lung:	n/a	n/a
49	CEBPB	chr5:44808628-44809266	MCF-7	breast:	n/a	chr5:44808908-44808916 chr5:44808924-44808937 chr5:44808925-44808936
50	POLR2A	chr5:44808621-44810294	K562	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:102821336..102821906-chr5:44808729..44809463,2	Hela-S3	cervix:
2	chr1:53793010..53793667-chr5:44808690..44809499,2	Hela-S3	cervix:
3	chr5:44808698..44809442-chr6:36410427..36411129,2	Hela-S3	cervix:
4	chr20:61557361..61558053-chr5:44808686..44809479,2	Hela-S3	cervix:
5	chr5:44808957..44809562-chr9:124132087..124132930,2	Hela-S3	cervix:
6	chr5:44808999..44809744-chr7:72971733..72972413,2	Hela-S3	cervix:
7	chr5:44808786..44809598-chr5:172197780..172198613,2	Hela-S3	cervix:
8	chr12:49392278..49393242-chr5:44808988..44809561,2	Hela-S3	cervix:
9	chr15:93425618..93426327-chr5:44808930..44809610,2	Hela-S3	cervix:
10	chr19:14529681..14530530-chr5:44809016..44809604,2	Hela-S3	cervix:
11	chr14:23938468..23939352-chr5:44808810..44809313,2	Hela-S3	cervix:
12	chr3:196044330..196045109-chr5:44808668..44809542,2	Hela-S3	cervix:
13	chr17:7591709..7592384-chr5:44809087..44809902,2	Hela-S3	cervix:
14	chr4:83821443..83822373-chr5:44808683..44809463,2	Hela-S3	cervix:
15	chr2:191745250..191746774-chr5:44808743..44810659,2	MCF-7	breast:
16	chr4:40058800..40059461-chr5:44808324..44809273,2	Hela-S3	cervix:
17	chr5:43601796..43604385-chr5:44808876..44810396,2	K562	blood:
18	chr5:44808723..44809249-chr7:100026295..100026950,2	Hela-S3	cervix:
19	chr1:77684507..77685215-chr5:44808668..44809523,2	Hela-S3	cervix:
20	chr11:17099102..17099608-chr5:44808888..44809410,2	Hela-S3	cervix:
21	chr10:71929901..71930548-chr5:44808772..44809281,2	Hela-S3	cervix:
22	chr16:2317728..2318295-chr5:44808823..44809613,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
MRPS30	TF binding region
ENSG00000251141	TF binding region
ENSG00000123136	Chromatin interaction
ENSG00000207715	Chromatin interaction
ENSG00000141499	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000112078	Chromatin interaction
ENSG00000148175	Chromatin interaction
ENSG00000107821	Chromatin interaction
ENSG00000120129	Chromatin interaction
ENSG00000260778	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000168152	Chromatin interaction
ENSG00000272741	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000101191	Chromatin interaction
ENSG00000142892	Chromatin interaction
ENSG00000138674	Chromatin interaction
ENSG00000272888	Chromatin interaction
ENSG00000157193	Chromatin interaction
ENSG00000213123	Chromatin interaction
ENSG00000205794	Chromatin interaction
ENSG00000079332	Chromatin interaction
ENSG00000179165	Chromatin interaction
ENSG00000115419	Chromatin interaction
ENSG00000251022	Chromatin interaction
ENSG00000106635	Chromatin interaction
ENSG00000110700	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000205937	Chromatin interaction
ENSG00000129460	Chromatin interaction
ENSG00000181418	Chromatin interaction

Extended variants
information (count: 168 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:153)

rs_ID	r²[population]
rs10038562	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10040082	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10040488	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10041518	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10044096	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10045264	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10054773	0.81[ASN][1000 genomes]
rs10057521	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10059086	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10060878	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10063172	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10064434	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10064437	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10065638	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10069220	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10070037	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10072025	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10072259	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10462080	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10462081	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10462082	0.97[ASN][1000 genomes]
rs10462083	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10473376	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10473377	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1048758	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10512865	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1061310	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11741772	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746506	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746980	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11747159	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11750119	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11948387	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11948636	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11949847	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11951760	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11957920	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11958451	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12109710	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12188871	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12513749	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12517690	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12518851	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12651949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12652026	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12656984	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13154781	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13155698	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13157608	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13159598	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13160259	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13168400	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13174122	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13177711	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13183209	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185174	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13187933	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13189120	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1371023	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1371024	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1371025	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1438819	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438820	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1438822	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1438827	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16901963	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16901964	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16901965	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16901989	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16901990	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1821934	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1866406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083243	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2118764	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2165008	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2330572	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2330619	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2330620	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2877172	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34501299	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3761648	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761649	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761650	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129642	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4329028	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4395640	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4412123	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4457088	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4457089	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4518409	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4596389	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4629607	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4642377	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4866783	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4866784	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4866920	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57300972	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6451772	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6451774	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451775	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6451781	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67274820	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6859157	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6867533	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6868232	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6868779	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6870136	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6871820	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6872254	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6875287	0.87[EUR][1000 genomes]
rs6875933	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6881563	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6894324	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6896350	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6896417	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71610376	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs727304	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727305	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs729599	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7380559	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7449277	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7703059	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7703618	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7705343	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7708506	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7710952	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7710978	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7711136	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7711697	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7712949	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7715731	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7716571	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7717459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720787	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7728431	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7730841	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7736952	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7737491	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9292913	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9292914	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9292915	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs930394	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs930395	0.82[ASN][1000 genomes]
rs9637783	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9637796	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9637797	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs969679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9790879	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9790896	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9791056	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9791059	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9791164	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs987394	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830279	chr5:44688175-44860815	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv597933	chr5:44740989-44810740	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	n/a
4	nsv880712	chr5:44777878-44842260	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv881564	chr5:44783255-44914579	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv881629	chr5:44796042-44836788	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv881184	chr5:44796042-44842260	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv881280	chr5:44800665-44821736	Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
9	nsv880618	chr5:44800665-44836788	Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv881418	chr5:44800665-44869100	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv880397	chr5:44800665-44939293	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv462127	chr5:44803749-44834233	Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
13	nsv597934	chr5:44803749-44834233	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
14	nsv880838	chr5:44805926-44836788	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
15	nsv881498	chr5:44805926-44842260	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3747479	LOC647121	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44807200-44810600	Active TSS	Brain Anterior Caudate	brain
2	chr5:44807200-44811000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr5:44807400-44810200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:44807800-44811000	Active TSS	Hela-S3	cervix
5	chr5:44807800-44811000	Active TSS	K562	blood
6	chr5:44808000-44811000	Active TSS	HMEC	breast
7	chr5:44808000-44811200	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:44808200-44809200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:44808200-44809200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:44808200-44809200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:44808200-44809400	Active TSS	Brain Germinal Matrix	brain
12	chr5:44808200-44809800	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr5:44808200-44810000	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr5:44808200-44810000	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr5:44808200-44810200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr5:44808200-44810200	Active TSS	Brain Cingulate Gyrus	brain
17	chr5:44808200-44810200	Active TSS	Brain Hippocampus Middle	brain
18	chr5:44808200-44810200	Active TSS	Fetal Brain Female	brain
19	chr5:44808200-44810200	Active TSS	Fetal Heart	heart
20	chr5:44808200-44810200	Active TSS	Stomach Smooth Muscle	stomach
21	chr5:44808200-44810400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:44808200-44810400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr5:44808200-44810600	Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr5:44808200-44810800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr5:44808200-44811000	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr5:44808200-44811200	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr5:44808200-44811200	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr5:44808200-44811400	Active TSS	H1 Cell Line	embryonic stem cell
29	chr5:44808200-44811400	Active TSS	Right Atrium	heart
30	chr5:44808200-44811800	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr5:44808400-44809200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:44808400-44809800	Active TSS	Liver	Liver
33	chr5:44808400-44810000	Active TSS	Duodenum Mucosa	Duodenum
34	chr5:44808400-44810000	Active TSS	Rectal Smooth Muscle	rectum
35	chr5:44808400-44810200	Active TSS	Brain Substantia Nigra	brain
36	chr5:44808400-44810200	Active TSS	Colon Smooth Muscle	Colon
37	chr5:44808400-44810200	Active TSS	Fetal Lung	lung
38	chr5:44808400-44810200	Active TSS	Osteobl	bone
39	chr5:44808400-44810400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:44808400-44810400	Active TSS	Fetal Muscle Leg	muscle
41	chr5:44808400-44810600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:44808400-44810600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:44808400-44810600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:44808400-44810600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:44808400-44810600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:44808400-44810600	Active TSS	Muscle Satellite Cultured Cells	--
47	chr5:44808400-44810600	Active TSS	Fetal Kidney	kidney
48	chr5:44808400-44810600	Active TSS	A549	lung
49	chr5:44808400-44810600	Active TSS	NH-A	brain
50	chr5:44808400-44810600	Active TSS	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links