Variant report

Variant	rs2430400
Chromosome Location	chr1:223320946-223320947
allele	A/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	SETDB1	chr1:223320642-223321135	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
TLR5	TF binding region

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10489492	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11486079	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11488549	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1361642	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1418145	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1418146	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1612398	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1640803	0.93[ASN][1000 genomes]
rs1640809	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1640811	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1640812	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1640813	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1640814	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1640815	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1640816	0.98[ASN][1000 genomes]
rs1640817	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1640818	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1640819	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1640820	0.95[ASN][1000 genomes]
rs1640823	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17163741	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17163742	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17163743	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1773738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773744	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773749	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1773753	0.93[ASN][1000 genomes]
rs1773754	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1773761	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773762	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773763	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773765	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1773766	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1773767	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1773768	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1935305	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241095	0.82[ASN][1000 genomes]
rs2256707	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302597	0.95[ASN][1000 genomes]
rs2353474	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2487834	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2487836	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34136554	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34552707	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34970812	0.87[EUR][1000 genomes]
rs35349967	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35579200	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35705006	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35802580	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35953839	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4393150	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs45501199	0.82[ASN][1000 genomes]
rs5744135	0.82[ASN][1000 genomes]
rs5744138	0.82[ASN][1000 genomes]
rs5744139	0.82[ASN][1000 genomes]
rs5744140	0.82[ASN][1000 genomes]
rs5744143	0.82[ASN][1000 genomes]
rs5744145	0.82[ASN][1000 genomes]
rs5744147	0.82[ASN][1000 genomes]
rs5744149	0.82[ASN][1000 genomes]
rs66553000	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66662427	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66757010	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66832195	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66938974	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67573944	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67623966	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67639934	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67833495	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67883821	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs723961	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743851	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72743852	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73118159	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73118168	0.93[ASN][1000 genomes]
rs759303	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763389	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs988241	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs988242	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs988243	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs988244	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs988779	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223317600-223326800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:223317800-223321400	Weak transcription	Gastric	stomach
3	chr1:223318000-223321400	Weak transcription	Thymus	Thymus
4	chr1:223318400-223322600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:223318600-223321400	Weak transcription	Fetal Muscle Leg	muscle

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