Variant report

Variant	rs1866406
Chromosome Location	chr5:44809945-44809946
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:44808623-44815570	K562	blood:	n/a	n/a
2	USF1	chr5:44809891-44810118	H1-hESC	embryonic stem cell:	n/a	chr5:44810046-44810057
3	CTCF	chr5:44809880-44810030	HMEC	breast:	n/a	n/a
4	POLR2A	chr5:44808779-44809976	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:44809671-44810066	U87	brain:	n/a	n/a
6	MYC	chr5:44808648-44810406	NB4	blood:	n/a	chr5:44810041-44810051
7	MAFK	chr5:44809825-44810780	Hela-S3	cervix:	n/a	n/a
8	GTF2F1	chr5:44809744-44810078	K562	blood:	n/a	n/a
9	POLR2A	chr5:44808700-44810063	HEK293	kidney:	n/a	n/a
10	SIN3AK20	chr5:44808735-44810199	K562	blood:	n/a	n/a
11	USF1	chr5:44809863-44810221	K562	blood:	n/a	chr5:44810046-44810057
12	MAX	chr5:44808658-44810191	Hela-S3	cervix:	n/a	chr5:44810041-44810051
13	RUNX3	chr5:44809660-44810156	GM12878	blood:	n/a	n/a
14	RCOR1	chr5:44808643-44810217	K562	blood:	n/a	n/a
15	POLR2A	chr5:44808689-44810092	K562	blood:	n/a	n/a
16	CTCF	chr5:44809840-44809990	AG10803	skin:	n/a	n/a
17	POLR2A	chr5:44808665-44810156	K562	blood:	n/a	n/a
18	POLR2A	chr5:44808673-44810329	K562	blood:	n/a	n/a
19	MAX	chr5:44809643-44810200	H1-hESC	embryonic stem cell:	n/a	chr5:44810041-44810051
20	RCOR1	chr5:44809620-44810027	GM12878	blood:	n/a	n/a
21	ZNF143	chr5:44808684-44810042	Hela-S3	cervix:	n/a	n/a
22	MYBL2	chr5:44809391-44809959	HepG2	liver:	n/a	n/a
23	REST	chr5:44808499-44810381	H1-neurons	neurons:	n/a	n/a
24	RCOR1	chr5:44808597-44810102	K562	blood:	n/a	n/a
25	USF1	chr5:44809912-44810089	SK-N-SH_RA	brain:	n/a	chr5:44810046-44810057
26	POLR2A	chr5:44808621-44810294	K562	blood:	n/a	n/a
27	POLR2A	chr5:44809751-44810013	HepG2	liver:	n/a	n/a
28	POLR2A	chr5:44809286-44810039	GM12891	blood:	n/a	n/a
29	POLR2A	chr5:44808690-44810101	H1-hESC	embryonic stem cell:	n/a	n/a
30	SMARCC2	chr5:44808765-44810028	Hela-S3	cervix:	n/a	n/a
31	TAL1	chr5:44808552-44810167	K562	blood:	n/a	n/a
32	POLR2A	chr5:44808644-44810090	GM19193	blood:	n/a	n/a
33	CTCF	chr5:44809880-44810030	AG10803	skin:	n/a	n/a
34	POLR2A	chr5:44808608-44810306	GM12878	blood:	n/a	n/a
35	SIN3A	chr5:44808663-44810318	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr5:44809907-44810254	SK-N-SH	brain:	n/a	chr5:44810041-44810051
37	POLR2A	chr5:44809856-44810048	H1-hESC	embryonic stem cell:	n/a	n/a
38	USF2	chr5:44809868-44810061	HepG2	liver:	n/a	chr5:44810046-44810057
39	MAZ	chr5:44808627-44810137	K562	blood:	n/a	n/a
40	POLR2A	chr5:44808588-44810913	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr5:44808621-44810138	GM19099	blood:	n/a	n/a
42	MYC	chr5:44808654-44810189	Hela-S3	cervix:	n/a	chr5:44810041-44810051
43	POLR2A	chr5:44808659-44810063	ECC-1	luminal epithelium:	n/a	n/a
44	TAF1	chr5:44808672-44810105	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr5:44809920-44810070	HBMEC	blood vessel:	n/a	n/a
46	POLR2A	chr5:44809671-44810072	U87	brain:	n/a	n/a
47	JUND	chr5:44808564-44810090	K562	blood:	n/a	chr5:44808990-44808999 chr5:44808678-44808690
48	USF1	chr5:44809877-44810144	H1-hESC	embryonic stem cell:	n/a	chr5:44810046-44810057
49	ARID3A	chr5:44809867-44810155	K562	blood:	n/a	n/a
50	TAF1	chr5:44808694-44810036	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:171785493..171786293-chr5:44809583..44810173,2	Hela-S3	cervix:
2	chr2:191745250..191746774-chr5:44808743..44810659,2	MCF-7	breast:
3	chr5:43601796..43604385-chr5:44808876..44810396,2	K562	blood:
4	chr3:132440899..132441670-chr5:44809571..44810212,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000251141	TF binding region
MRPS30	TF binding region
ENSG00000248724	Chromatin interaction
ENSG00000115806	Chromatin interaction
ENSG00000115419	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000113971	Chromatin interaction

Extended variants
information (count: 173 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:158)

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	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];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	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11741772	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746506	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][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]
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	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];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	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[YRI][hapmap];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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];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	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];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	0.90[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13177711	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13183209	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];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	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1438819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1438820	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];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]
rs2013513	0.87[CHB][hapmap];0.83[JPT][hapmap]
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]
rs2218080	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2218081	0.87[CHB][hapmap];0.87[JPT][hapmap]
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]
rs3747479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];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	0.92[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6868232	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];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	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];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]
rs714130	0.87[CHB][hapmap];0.83[JPT][hapmap]
rs71610376	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs727304	0.91[CHB][hapmap];0.85[JPT][hapmap];0.87[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727305	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[YRI][hapmap];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	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7717459	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7720787	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];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]
rs920329	0.87[CHB][hapmap];0.87[JPT][hapmap]
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	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];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
rs1866406	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	chr5:44808200-44810000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr5:44808200-44810000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:44808200-44810200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:44808200-44810200	Active TSS	Brain Cingulate Gyrus	brain
12	chr5:44808200-44810200	Active TSS	Brain Hippocampus Middle	brain
13	chr5:44808200-44810200	Active TSS	Fetal Brain Female	brain
14	chr5:44808200-44810200	Active TSS	Fetal Heart	heart
15	chr5:44808200-44810200	Active TSS	Stomach Smooth Muscle	stomach
16	chr5:44808200-44810400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:44808200-44810400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr5:44808200-44810600	Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr5:44808200-44810800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr5:44808200-44811000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr5:44808200-44811200	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr5:44808200-44811200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr5:44808200-44811400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr5:44808200-44811400	Active TSS	Right Atrium	heart
25	chr5:44808200-44811800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr5:44808400-44810000	Active TSS	Duodenum Mucosa	Duodenum
27	chr5:44808400-44810000	Active TSS	Rectal Smooth Muscle	rectum
28	chr5:44808400-44810200	Active TSS	Brain Substantia Nigra	brain
29	chr5:44808400-44810200	Active TSS	Colon Smooth Muscle	Colon
30	chr5:44808400-44810200	Active TSS	Fetal Lung	lung
31	chr5:44808400-44810200	Active TSS	Osteobl	bone
32	chr5:44808400-44810400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:44808400-44810400	Active TSS	Fetal Muscle Leg	muscle
34	chr5:44808400-44810600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:44808400-44810600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:44808400-44810600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:44808400-44810600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr5:44808400-44810600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:44808400-44810600	Active TSS	Muscle Satellite Cultured Cells	--
40	chr5:44808400-44810600	Active TSS	Fetal Kidney	kidney
41	chr5:44808400-44810600	Active TSS	A549	lung
42	chr5:44808400-44810600	Active TSS	NH-A	brain
43	chr5:44808400-44810600	Active TSS	NHLF	lung
44	chr5:44808400-44810800	Active TSS	Fetal Intestine Large	intestine
45	chr5:44808400-44810800	Active TSS	Fetal Stomach	stomach
46	chr5:44808400-44811000	Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr5:44808400-44811000	Active TSS	GM12878-XiMat	blood
48	chr5:44808400-44811200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:44808400-44811400	Active TSS	Brain Angular Gyrus	brain
50	chr5:44808600-44810000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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