Variant report

Variant	rs1650695
Chromosome Location	chr5:79951382-79951383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:61)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:61 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:79949416-79951701	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:79949816-79951683	Raji	blood:	n/a	n/a
3	POLR2A	chr5:79949826-79951549	GM19193	blood:	n/a	n/a
4	ZMIZ1	chr5:79950469-79951492	K562	blood:	n/a	n/a
5	POLR2A	chr5:79949794-79951638	MCF-7	breast:	n/a	n/a
6	POLR2A	chr5:79949856-79951727	GM19099	blood:	n/a	n/a
7	RELA	chr5:79950458-79951397	GM15510	blood:	n/a	n/a
8	WRNIP1	chr5:79950538-79951574	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr5:79949748-79951402	MCF-7	breast:	n/a	n/a
10	POLR2A	chr5:79948603-79951714	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:79949736-79951618	GM12878	blood:	n/a	n/a
12	GABPA	chr5:79950476-79951411	MCF-7	breast:	n/a	chr5:79950824-79950833 chr5:79950846-79950855
13	TBP	chr5:79950571-79951542	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr5:79949908-79951666	U87	brain:	n/a	n/a
15	POLR2A	chr5:79949810-79951741	GM12878	blood:	n/a	n/a
16	POLR2A	chr5:79949192-79951540	K562	blood:	n/a	n/a
17	RELA	chr5:79950484-79951440	GM10847	blood:	n/a	n/a
18	POLR2A	chr5:79949922-79951758	U87	brain:	n/a	n/a
19	POLR2A	chr5:79949470-79951611	MCF10A-Er-Src	breast:	n/a	n/a
20	CEBPB	chr5:79950093-79951524	Hela-S3	cervix:	n/a	n/a
21	USF2	chr5:79950891-79951504	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr5:79949759-79951597	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr5:79949879-79951586	GM12878	blood:	n/a	n/a
24	POLR2A	chr5:79949931-79951493	K562	blood:	n/a	n/a
25	POLR2A	chr5:79950436-79952011	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:79950034-79951600	HUVEC	blood vessel:	n/a	n/a
27	RFX5	chr5:79950403-79951571	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr5:79949949-79951709	K562	blood:	n/a	n/a
29	CHD1	chr5:79950461-79951543	GM12878	blood:	n/a	n/a
30	EP300	chr5:79950572-79951435	K562	blood:	n/a	n/a
31	MXI1	chr5:79949861-79951449	HepG2	liver:	n/a	n/a
32	MTA3	chr5:79950405-79951557	GM12878	blood:	n/a	n/a
33	POLR2A	chr5:79949737-79951753	K562	blood:	n/a	n/a
34	ZKSCAN1	chr5:79950317-79951540	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr5:79949099-79952397	GM12891	blood:	n/a	n/a
36	GABPA	chr5:79950719-79951408	A549	lung:	n/a	chr5:79950824-79950833 chr5:79950846-79950855
37	FOS	chr5:79951341-79951527	MCF10A-Er-Src	breast:	n/a	n/a
38	TBL1XR1	chr5:79950499-79951384	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:79949873-79951522	NB4	blood:	n/a	n/a
40	POLR2A	chr5:79949356-79951526	Hela-S3	cervix:	n/a	n/a
41	MXI1	chr5:79950042-79951854	GM12878	blood:	n/a	n/a
42	RCOR1	chr5:79950509-79951452	GM12878	blood:	n/a	n/a
43	RUNX3	chr5:79949750-79951542	GM12878	blood:	n/a	chr5:79950116-79950131
44	CHD2	chr5:79950129-79951513	Hela-S3	cervix:	n/a	chr5:79950383-79950393
45	POLR2A	chr5:79949800-79951663	HepG2	liver:	n/a	n/a
46	MYC	chr5:79949251-79951471	K562	blood:	n/a	n/a
47	ELK4	chr5:79950527-79951565	Hela-S3	cervix:	n/a	chr5:79950968-79950979
48	MAX	chr5:79950184-79951412	GM12878	blood:	n/a	n/a
49	POLR2A	chr5:79949819-79951768	GM18505	blood:	n/a	n/a
50	POLR2A	chr5:79949749-79951546	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:79950548..79951545-chr7:5569740..5570286,2	Hela-S3	cervix:
2	chr11:85955785..85956525-chr5:79950777..79951467,2	NB4	blood:
3	chr5:79781713..79786255-chr5:79948613..79954295,12	MCF-7	breast:
4	chr5:79782822..79786705-chr5:79948261..79952248,11	MCF-7	breast:
5	chr5:79702114..79706204-chr5:79947823..79953616,8	MCF-7	breast:
6	chr5:79773551..79776073-chr5:79951057..79953387,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM151B-3	chr5:79950971-79951398	NONHSAT102418

No data

Variant related genes	Relation type
DHFR	TF binding region
MTRNR2L2	TF binding region
ENSG00000074266	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000039319	Chromatin interaction
ENSG00000249042	Chromatin interaction
ENSG00000152380	Chromatin interaction

Extended variants
information (count: 209 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:207)

rs_ID	r²[population]
rs10168	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11950480	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11952744	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1222809	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13161245	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1346463	0.91[EUR][1000 genomes]
rs1346464	0.91[EUR][1000 genomes]
rs1382539	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382540	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382541	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382542	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382543	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1478834	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1478835	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1620258	0.91[EUR][1000 genomes]
rs1623489	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1628627	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1631572	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1643634	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643635	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1643636	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643637	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1643638	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643639	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643641	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643643	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1643644	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1643645	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs1643646	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643647	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643648	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643649	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643650	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643651	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1643652	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643653	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643655	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1643657	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643658	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643659	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643660	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643661	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1643662	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1643664	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650648	0.91[EUR][1000 genomes]
rs1650650	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650651	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650652	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650653	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650654	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650655	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650656	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1650657	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650658	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650659	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650661	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650662	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650663	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650664	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650665	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650666	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650667	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650668	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650670	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650671	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650674	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650675	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650676	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650677	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650678	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650679	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650680	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650681	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650682	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650683	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650685	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1650688	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1650692	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650693	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650694	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650696	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650707	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650709	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650710	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650711	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650712	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650713	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650715	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650718	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1650747	0.91[EUR][1000 genomes]
rs1650749	0.91[EUR][1000 genomes]
rs1650750	0.90[EUR][1000 genomes]
rs1677623	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677625	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677626	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677628	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677629	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677630	0.91[EUR][1000 genomes]
rs1677633	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677634	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677635	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677636	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677638	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677639	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677640	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677641	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677642	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677643	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677644	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677645	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677647	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677648	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677649	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677650	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677652	0.91[EUR][1000 genomes]
rs1677653	0.89[EUR][1000 genomes]
rs1677654	0.91[EUR][1000 genomes]
rs1677655	0.89[EUR][1000 genomes]
rs1677666	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677667	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677670	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677676	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1677680	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1677682	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677683	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677684	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677685	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677686	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677687	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677688	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677689	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677690	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1677691	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677692	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1677693	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677694	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677695	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677696	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677698	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677700	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677701	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677702	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677703	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1677704	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677706	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1677707	0.91[EUR][1000 genomes]
rs1677708	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1677709	0.91[EUR][1000 genomes]
rs1824837	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1824838	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1824839	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2250063	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2405880	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2560423	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2560424	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2618369	0.91[EUR][1000 genomes]
rs2618372	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs26282	0.89[ASN][1000 genomes]
rs28027	0.89[ASN][1000 genomes]
rs2897262	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56147256	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56357417	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57771284	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58063248	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58490646	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59117994	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60244599	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6151613	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6151614	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151615	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6151619	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151620	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151632	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6151633	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67837398	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71578847	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73765838	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73765839	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7387	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs836798	0.91[EUR][1000 genomes]
rs836799	0.91[EUR][1000 genomes]
rs836800	0.91[EUR][1000 genomes]
rs836801	0.87[EUR][1000 genomes]
rs836802	0.91[EUR][1000 genomes]
rs836804	0.91[EUR][1000 genomes]
rs836806	0.91[EUR][1000 genomes]
rs836808	0.91[EUR][1000 genomes]
rs836809	0.91[EUR][1000 genomes]
rs836810	0.91[EUR][1000 genomes]
rs836813	0.91[EUR][1000 genomes]
rs836818	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs836820	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs836821	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs836822	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs836823	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs844368	0.90[EUR][1000 genomes]
rs844370	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs857016	0.91[EUR][1000 genomes]
rs861372	0.91[EUR][1000 genomes]
rs861373	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs863214	0.87[EUR][1000 genomes]
rs863215	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs864133	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs865645	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs865646	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs865647	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs966762	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv3406922	chr5:79949421-79951969	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1650695	DHFR///LOC643509	Cis_1M	lymphoblastoid	RTeQTL
rs1650695	MSH3	cis	Whole Blood	GTEx
rs1650695	DHFR	cis	Adipose Subcutaneous	GTEx
rs1650695	DHFR	cis	Whole Blood	GTEx
rs1650695	DHFR	cis	Muscle Skeletal	GTEx
rs1650695	MSH3	cis	Thyroid	GTEx
rs1650695	DHFR	cis	Esophagus Muscularis	GTEx
rs1650695	ANKRD34B	cis	Whole Blood	GTEx
rs1650695	DHFR	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79948600-79952000	Active TSS	GM12878-XiMat	blood
2	chr5:79948800-79951400	Active TSS	Fetal Intestine Large	intestine
3	chr5:79949000-79951400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr5:79949000-79951400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr5:79949000-79951400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:79949000-79951400	Active TSS	Fetal Intestine Small	intestine
7	chr5:79949000-79951600	Active TSS	A549	lung
8	chr5:79949200-79951400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:79949200-79951400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:79949200-79951400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:79949200-79951600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr5:79949200-79951600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:79949200-79951600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:79949200-79951600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:79949200-79952000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr5:79949400-79951400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:79949400-79951400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:79949400-79951400	Active TSS	NHLF	lung
19	chr5:79949400-79951600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:79949600-79951400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:79949600-79951400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:79949600-79951400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:79949600-79951400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr5:79949600-79951400	Active TSS	HepG2	liver
25	chr5:79949600-79951400	Active TSS	HMEC	breast
26	chr5:79949600-79951400	Active TSS	HSMMtube	muscle
27	chr5:79949600-79952000	Active TSS	K562	blood
28	chr5:79949800-79951400	Active TSS	Muscle Satellite Cultured Cells	--
29	chr5:79949800-79951400	Active TSS	Fetal Kidney	kidney
30	chr5:79949800-79951400	Active TSS	HSMM	muscle
31	chr5:79950000-79951400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:79950000-79951400	Active TSS	Aorta	Aorta
33	chr5:79950000-79951400	Active TSS	Rectal Smooth Muscle	rectum
34	chr5:79950000-79951400	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr5:79950000-79951400	Active TSS	Small Intestine	intestine
36	chr5:79950000-79951400	Active TSS	Thymus	Thymus
37	chr5:79950200-79951400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:79950200-79951400	Active TSS	Primary T cells fromperipheralblood	blood
39	chr5:79950200-79951400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:79950200-79951400	Active TSS	Brain Germinal Matrix	brain
41	chr5:79950200-79951400	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr5:79950200-79951400	Active TSS	Colonic Mucosa	Colon
43	chr5:79950200-79951400	Active TSS	Esophagus	oesophagus
44	chr5:79950200-79951400	Active TSS	Fetal Brain Female	brain
45	chr5:79950200-79951400	Active TSS	Fetal Muscle Leg	muscle
46	chr5:79950200-79951400	Active TSS	Placenta	Placenta
47	chr5:79950200-79951400	Active TSS	Left Ventricle	heart
48	chr5:79950200-79951400	Active TSS	Pancreas	Pancrea
49	chr5:79950200-79951400	Active TSS	Psoas Muscle	Psoas
50	chr5:79950200-79951400	Active TSS	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

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