Variant report

Variant	rs1643639
Chromosome Location	chr5:79952390-79952391
allele	A/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	CTCF	chr5:79952290-79952612	MCF-7	breast:	n/a	n/a
2	ZNF143	chr5:79952301-79952665	GM12878	blood:	n/a	n/a
3	CTCF	chr5:79952360-79952510	HCT-116	colon:	n/a	n/a
4	CTCF	chr5:79952300-79952590	HFF-Myc	foreskin:	n/a	n/a
5	CTCF	chr5:79952340-79952490	HBMEC	blood vessel:	n/a	n/a
6	RAD21	chr5:79952258-79952632	HepG2	liver:	n/a	chr5:79952404-79952423 chr5:79952409-79952419 chr5:79952409-79952421
7	CTCF	chr5:79952360-79952510	GM12870	blood:	n/a	n/a
8	RAD21	chr5:79952286-79952629	H1-hESC	embryonic stem cell:	n/a	chr5:79952404-79952423 chr5:79952409-79952419 chr5:79952409-79952421
9	CTCF	chr5:79952380-79952530	GM12870	blood:	n/a	n/a
10	CTCF	chr5:79952379-79952606	GM12878	blood:	n/a	n/a
11	RAD21	chr5:79952325-79952631	SK-N-SH_RA	brain:	n/a	chr5:79952404-79952423 chr5:79952409-79952419 chr5:79952409-79952421
12	CTCF	chr5:79952380-79952530	GM12864	blood:	n/a	n/a
13	TBL1XR1	chr5:79952297-79952442	K562	blood:	n/a	n/a
14	CTCF	chr5:79952380-79952530	WERI-Rb-1	eye:	n/a	n/a
15	RAD21	chr5:79952351-79952538	GM12878	blood:	n/a	chr5:79952404-79952423 chr5:79952409-79952419 chr5:79952409-79952421
16	RAD21	chr5:79952291-79952635	HepG2	liver:	n/a	chr5:79952404-79952423 chr5:79952409-79952419 chr5:79952409-79952421
17	CTCF	chr5:79952380-79952530	GM12871	blood:	n/a	n/a
18	CTCF	chr5:79952360-79952510	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr5:79952380-79952530	Caco-2	colon:	n/a	n/a
20	CTCF	chr5:79952380-79952530	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr5:79952303-79952672	GM12878	blood:	n/a	n/a
22	POLR2A	chr5:79949099-79952397	GM12891	blood:	n/a	n/a
23	CTCF	chr5:79952390-79952560	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr5:79952340-79952490	GM12874	blood:	n/a	n/a
25	CTCF	chr5:79952320-79952470	RPTEC	kidney:	n/a	n/a
26	RAD21	chr5:79952308-79952566	SK-N-SH_RA	brain:	n/a	chr5:79952404-79952423 chr5:79952409-79952419 chr5:79952409-79952421
27	CTCF	chr5:79952363-79952612	HepG2	liver:	n/a	n/a
28	RAD21	chr5:79952377-79952567	GM12878	blood:	n/a	chr5:79952404-79952423 chr5:79952409-79952419 chr5:79952409-79952421
29	CTCF	chr5:79952380-79952530	HRE	kidney:	n/a	n/a
30	CTCF	chr5:79952230-79952656	HepG2	liver:	n/a	n/a
31	CTCF	chr5:79952340-79952490	GM12865	blood:	n/a	n/a
32	CTCF	chr5:79952255-79952665	K562	blood:	n/a	n/a
33	CTCF	chr5:79952380-79952530	GM12873	blood:	n/a	n/a
34	CTCF	chr5:79952320-79952470	HCM	heart:	n/a	n/a
35	CTCF	chr5:79952380-79952530	AoAF	blood vessel:	n/a	n/a
36	RCOR1	chr5:79952361-79952528	K562	blood:	n/a	n/a
37	CTCF	chr5:79952340-79952490	HAc	cerebellar:	n/a	n/a
38	CTCF	chr5:79952390-79952620	IMR90	lung:	n/a	n/a
39	CTCF	chr5:79952297-79952588	K562	blood:	n/a	n/a
40	RAD21	chr5:79952332-79952558	HepG2	liver:	n/a	chr5:79952404-79952423 chr5:79952409-79952419 chr5:79952409-79952421

No.	Distal block	Cell Line	Cell type
1	chr5:79930876..79933489-chr5:79951399..79953527,2	K562	blood:
2	chr5:79781713..79786255-chr5:79948613..79954295,12	MCF-7	breast:
3	chr5:79949138..79951235-chr5:79952143..79954933,3	K562	blood:
4	chr5:79702114..79706204-chr5:79947823..79953616,8	MCF-7	breast:
5	chr5:79949138..79951235-chr5:79952143..79954241,3	K562	blood:
6	chr5:79773551..79776073-chr5:79951057..79953387,2	K562	blood:

Variant related genes	Relation type
DHFR	TF binding region
ENSG00000039319	Chromatin interaction
ENSG00000249042	Chromatin interaction
ENSG00000113318	Chromatin interaction
ENSG00000152380	Chromatin interaction
ENSG00000228716	Chromatin interaction

Extended variants
information (count: 210 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:209)

rs_ID	r²[population]
rs10168	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11950480	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11952744	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1222809	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13161245	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13185915	0.81[EUR][1000 genomes]
rs1346463	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1346464	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1382539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382542	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382543	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1478834	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1478835	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1620258	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1623489	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1628627	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1631572	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1643634	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643635	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1643636	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643637	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1643638	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643641	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643643	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1643644	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643645	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs1643646	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643647	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643648	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643649	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643650	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643651	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1643652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643653	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643655	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643657	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643658	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643659	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643660	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643661	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1643662	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643664	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650648	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1650650	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650651	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650652	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650653	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650654	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650655	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650656	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1650657	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650658	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650659	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650661	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650662	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650663	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650664	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650665	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650666	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650667	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650668	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650670	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650671	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650674	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650675	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650676	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650677	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650678	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650679	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650680	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650681	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650682	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650683	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650685	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650688	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1650692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650694	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650695	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650706	0.80[AMR][1000 genomes]
rs1650707	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650709	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650710	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650711	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650712	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650713	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650715	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650718	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650747	0.90[EUR][1000 genomes]
rs1650749	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1650750	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1677623	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677625	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677626	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677628	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677629	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677630	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1677633	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677634	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677635	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677636	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677638	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677639	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677640	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677641	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677642	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677643	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677644	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677645	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677647	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677648	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677649	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677650	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677652	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1677653	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1677654	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1677655	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1677666	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677670	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677676	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1677680	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677682	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677683	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677684	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677685	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677686	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677687	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677688	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677689	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677690	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1677691	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677692	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1677693	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677694	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677695	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677696	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677698	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677700	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677701	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677702	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677703	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677704	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677706	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677707	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1677708	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1677709	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1824837	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1824838	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1824839	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2250063	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2405880	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2560423	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2560424	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2618369	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2618372	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs26282	0.89[ASN][1000 genomes]
rs28027	0.89[ASN][1000 genomes]
rs2897262	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56147256	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56357417	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57771284	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58063248	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58490646	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59117994	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60244599	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6151613	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6151614	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151615	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6151619	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151620	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151632	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151633	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67837398	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71578847	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73765838	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73765839	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7387	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs836798	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs836799	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs836800	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs836801	0.87[EUR][1000 genomes]
rs836802	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs836804	0.90[EUR][1000 genomes]
rs836806	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs836808	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs836809	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs836810	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs836813	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs836818	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs836820	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs836821	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs836822	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs836823	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs844368	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs844370	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs857016	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs861372	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs861373	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs863214	0.87[EUR][1000 genomes]
rs863215	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs864133	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs865645	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs865646	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs865647	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs966762	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1643639	DHFR	cis	Whole Blood	GTEx
rs1643639	DHFR	cis	Adipose Subcutaneous	GTEx
rs1643639	ANKRD34B	cis	Whole Blood	GTEx
rs1643639	MSH3	cis	Thyroid	GTEx
rs1643639	DHFR	cis	Heart Left Ventricle	GTEx
rs1643639	DHFR	cis	Esophagus Muscularis	GTEx
rs1643639	DHFR///LOC643509	Cis_1M	lymphoblastoid	RTeQTL
rs1643639	DHFR	cis	Muscle Skeletal	GTEx
rs1643639	MSH3	cis	Whole Blood	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79951000-79952600	Flanking Active TSS	Osteobl	bone
2	chr5:79951200-79952400	Flanking Active TSS	Dnd41	blood
3	chr5:79951200-79954800	Weak transcription	Ovary	ovary
4	chr5:79951200-79963200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:79951400-79952400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:79951400-79956000	Weak transcription	Aorta	Aorta
7	chr5:79951400-79963200	Weak transcription	Right Ventricle	heart
8	chr5:79951600-79952400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:79951600-79952400	Weak transcription	Placenta	Placenta
10	chr5:79951600-79952400	Enhancers	HSMMtube	muscle
11	chr5:79951600-79952400	Enhancers	NHDF-Ad	bronchial
12	chr5:79951600-79952600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:79951600-79952600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr5:79951600-79952600	Enhancers	HUVEC	blood vessel
15	chr5:79951600-79952600	Enhancers	NH-A	brain
16	chr5:79951600-79953000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:79951600-79953000	Weak transcription	Fetal Stomach	stomach
18	chr5:79951600-79953000	Weak transcription	Psoas Muscle	Psoas
19	chr5:79951600-79953200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:79951600-79953200	Weak transcription	Left Ventricle	heart
21	chr5:79951600-79953600	Weak transcription	Lung	lung
22	chr5:79951600-79953600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:79951600-79953800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:79951600-79954200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:79951600-79954200	Weak transcription	Colonic Mucosa	Colon
26	chr5:79951600-79954400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:79951600-79954400	Weak transcription	Gastric	stomach
28	chr5:79951600-79955000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:79951600-79955000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr5:79951600-79955200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:79951600-79959000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:79951600-79962600	Weak transcription	Esophagus	oesophagus
33	chr5:79951600-79963200	Weak transcription	Pancreas	Pancrea
34	chr5:79951600-79963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:79951600-79963400	Weak transcription	Brain Germinal Matrix	brain
36	chr5:79951600-79963600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:79951600-79969200	Weak transcription	Stomach Mucosa	stomach
38	chr5:79951600-79972200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr5:79951600-80015600	Weak transcription	Small Intestine	intestine
40	chr5:79951800-79952400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:79951800-79952400	Enhancers	Primary T cells from cord blood	blood
42	chr5:79951800-79952400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr5:79951800-79952400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr5:79951800-79952400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:79951800-79952400	Weak transcription	Adipose Nuclei	Adipose
46	chr5:79951800-79952400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:79951800-79952400	Enhancers	Fetal Intestine Large	intestine
48	chr5:79951800-79952600	Genic enhancers	HUES64 Cell Line	embryonic stem cell
49	chr5:79951800-79952600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr5:79951800-79952600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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Variant report

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