Variant report

Variant	rs10913769
Chromosome Location	chr1:179418056-179418057
allele	G/T
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	CEBPB	chr1:179417959-179418279	K562	blood:	n/a	n/a
2	EP300	chr1:179417882-179418132	K562	blood:	n/a	n/a
3	ZNF384	chr1:179417675-179418305	K562	blood:	n/a	n/a
4	JUND	chr1:179417919-179418150	K562	blood:	n/a	n/a
5	MYC	chr1:179417591-179418148	K562	blood:	n/a	n/a
6	MAFK	chr1:179417922-179418231	K562	blood:	n/a	n/a
7	CEBPB	chr1:179417922-179418292	K562	blood:	n/a	n/a
8	RCOR1	chr1:179417737-179418238	K562	blood:	n/a	n/a
9	POLR2A	chr1:179417971-179418191	K562	blood:	n/a	n/a
10	MAFF	chr1:179417890-179418191	K562	blood:	n/a	n/a
11	ARID3A	chr1:179417315-179418149	K562	blood:	n/a	n/a

Variant related genes	Relation type
MEF2AP1	TF binding region

Extended variants
information (count: 134 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10913709	1.00[CHB][hapmap]
rs10913723	1.00[CHB][hapmap]
rs10913739	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10913752	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10913753	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10913755	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913760	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913761	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913762	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913766	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913767	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913770	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913809	0.86[ASN][1000 genomes]
rs11577579	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578241	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11581659	1.00[CHB][hapmap]
rs11582158	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs11582255	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582293	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11582754	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11586744	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11801919	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11802624	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802625	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11802637	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11803938	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11807559	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11811198	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12061572	1.00[CHB][hapmap]
rs12078723	1.00[CHB][hapmap]
rs12143460	1.00[CHB][hapmap]
rs12401957	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403885	0.86[JPT][hapmap]
rs12408443	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12409337	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12722736	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12724320	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12724496	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12724525	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12724634	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12724778	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12724901	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs12725414	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12726506	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12726875	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12729067	1.00[ASN][1000 genomes]
rs12729775	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12729788	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12730056	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12736279	0.86[ASN][1000 genomes]
rs12736545	0.86[ASN][1000 genomes]
rs12738262	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12738929	1.00[CEU][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739116	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739607	0.88[AMR][1000 genomes]
rs12741425	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12743018	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12743585	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12744251	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12744438	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12744949	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12744976	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12746253	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12746578	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12747626	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12749461	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12750591	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12751260	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12751550	0.80[ASN][1000 genomes]
rs12753162	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12753310	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12755634	0.80[ASN][1000 genomes]
rs12756624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12757708	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12757910	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12757935	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12758415	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12758828	0.90[JPT][hapmap]
rs12760048	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12760534	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1328597	0.86[ASN][1000 genomes]
rs1328598	0.86[ASN][1000 genomes]
rs1410589	0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs1576224	0.80[ASN][1000 genomes]
rs17277834	1.00[CHB][hapmap]
rs17369441	1.00[CHB][hapmap]
rs2209919	0.86[ASN][1000 genomes]
rs2247071	1.00[CHB][hapmap]
rs2254098	1.00[CHB][hapmap]
rs2265932	1.00[CHB][hapmap]
rs34291276	0.86[ASN][1000 genomes]
rs34463289	0.86[ASN][1000 genomes]
rs35401719	0.86[ASN][1000 genomes]
rs35427395	0.86[ASN][1000 genomes]
rs36057553	0.81[ASN][1000 genomes]
rs3935240	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4130266	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233177	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4233178	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4233179	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4360491	0.93[ASN][1000 genomes]
rs4418554	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4454499	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651023	1.00[CHB][hapmap]
rs4651028	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651037	0.80[ASN][1000 genomes]
rs4652362	1.00[CHB][hapmap]
rs4652363	1.00[CHB][hapmap]
rs4652368	0.80[ASN][1000 genomes]
rs4652383	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs61821011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61826364	0.86[ASN][1000 genomes]
rs61826365	0.86[ASN][1000 genomes]
rs6425536	1.00[CHB][hapmap]
rs6666939	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7513782	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7513973	1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7521106	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7524128	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7532155	0.95[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550638	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7551894	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7554103	0.95[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7555722	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7555895	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9662026	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9699789	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1819329	chr1:179371973-179442337	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv466217	chr1:179371973-179477921	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv548297	chr1:179371973-179477921	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv548298	chr1:179376896-179436288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	nsv946523	chr1:179417249-179426389	Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10913769	TDRD5	cis	Nerve Tibial	GTEx
rs10913769	AXDND1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179418000-179418600	Enhancers	K562	blood

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