Variant report

Variant	rs2591694
Chromosome Location	chr5:5524668-5524669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10063885	0.87[CEU][hapmap]
rs11746392	0.89[ASN][1000 genomes]
rs13174713	0.89[ASN][1000 genomes]
rs1541799	0.82[TSI][hapmap]
rs17479	0.89[ASN][1000 genomes]
rs2246106	0.94[ASN][1000 genomes]
rs2246112	0.90[ASN][1000 genomes]
rs2438486	0.89[ASN][1000 genomes]
rs2438487	0.89[ASN][1000 genomes]
rs2438489	0.80[ASN][1000 genomes]
rs2441069	0.89[ASN][1000 genomes]
rs2441070	0.80[ASN][1000 genomes]
rs2448438	0.90[ASN][1000 genomes]
rs252928	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs252929	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs252930	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs252934	0.87[EUR][1000 genomes]
rs252935	0.82[EUR][1000 genomes]
rs252938	0.82[EUR][1000 genomes]
rs2560298	0.83[CEU][hapmap]
rs2560299	0.91[CEU][hapmap]
rs2560300	0.91[CEU][hapmap]
rs2578500	0.88[TSI][hapmap]
rs2578513	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2578514	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2578515	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2578516	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2578527	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2578532	0.90[ASN][1000 genomes]
rs2578533	0.90[ASN][1000 genomes]
rs2578534	0.90[ASN][1000 genomes]
rs2578535	0.90[ASN][1000 genomes]
rs2578552	0.85[TSI][hapmap]
rs2578553	0.91[CEU][hapmap];0.83[TSI][hapmap]
rs2578554	0.86[CEU][hapmap]
rs2578557	0.91[CEU][hapmap]
rs2578560	0.89[ASN][1000 genomes]
rs2578561	0.89[ASN][1000 genomes]
rs2578564	0.87[CEU][hapmap];0.85[TSI][hapmap]
rs2578565	0.88[TSI][hapmap]
rs2591696	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2591697	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2591699	0.90[ASN][1000 genomes]
rs2591700	0.95[ASN][1000 genomes]
rs2591707	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2619829	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2619837	0.90[ASN][1000 genomes]
rs2619838	0.90[ASN][1000 genomes]
rs2619839	0.95[ASN][1000 genomes]
rs2619840	0.95[ASN][1000 genomes]
rs2619842	0.90[ASN][1000 genomes]
rs2619845	0.93[ASN][1000 genomes]
rs2619855	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2652705	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2652707	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2652708	0.89[ASN][1000 genomes]
rs2652709	0.93[ASN][1000 genomes]
rs2652710	0.89[ASN][1000 genomes]
rs2652715	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2652716	0.90[ASN][1000 genomes]
rs2652718	0.90[ASN][1000 genomes]
rs2652722	0.90[ASN][1000 genomes]
rs2652724	0.90[ASN][1000 genomes]
rs2652725	0.90[ASN][1000 genomes]
rs2918251	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2918260	0.86[CEU][hapmap]
rs2918261	0.85[TSI][hapmap]
rs2921570	0.95[ASN][1000 genomes]
rs2921571	0.90[ASN][1000 genomes]
rs2928223	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2928225	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2928237	0.90[ASN][1000 genomes]
rs2928238	0.90[ASN][1000 genomes]
rs2928239	0.90[ASN][1000 genomes]
rs2928240	0.90[ASN][1000 genomes]
rs2937807	0.81[ASN][1000 genomes]
rs2937810	0.89[ASN][1000 genomes]
rs2937811	0.90[ASN][1000 genomes]
rs2937813	0.90[ASN][1000 genomes]
rs2937814	0.90[ASN][1000 genomes]
rs3098376	0.90[ASN][1000 genomes]
rs3098377	0.87[CEU][hapmap];0.85[TSI][hapmap]
rs6894118	0.85[TSI][hapmap]
rs719080	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757981	chr5:5447098-5764620	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2759319	chr5:5447098-5764620	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv596941	chr5:5511990-5636458	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv596942	chr5:5511990-5722063	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2591694	MED10	cis	cerebellum	SCAN
rs2591694	NDUFS6	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5521400-5539200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:5523800-5525000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:5524000-5524800	Enhancers	Spleen	Spleen
4	chr5:5524200-5524800	Enhancers	Lung	lung
5	chr5:5524200-5524800	Enhancers	GM12878-XiMat	blood
6	chr5:5524600-5533400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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