Variant report

Variant	rs3858508
Chromosome Location	chr11:17721099-17721100
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	MAX	chr11:17721078-17721401	K562	blood:	n/a	n/a
2	FOSL1	chr11:17721091-17721388	K562	blood:	n/a	n/a
3	USF1	chr11:17721098-17721434	K562	blood:	n/a	chr11:17721107-17721123
4	CBX3	chr11:17721090-17721463	K562	blood:	n/a	n/a
5	JUND	chr11:17721074-17721487	K562	blood:	n/a	n/a
6	USF1	chr11:17721048-17721469	K562	blood:	n/a	chr11:17721107-17721123
7	JUN	chr11:17721038-17721587	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255335	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10766416	0.90[EUR][1000 genomes]
rs10766420	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10766423	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10766425	0.84[AMR][1000 genomes]
rs10832842	0.90[EUR][1000 genomes]
rs10832845	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10832851	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10832852	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11024384	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11603216	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11603221	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2336849	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28609365	0.89[EUR][1000 genomes]
rs3858493	0.89[EUR][1000 genomes]
rs3858494	0.89[EUR][1000 genomes]
rs3858495	0.89[EUR][1000 genomes]
rs3858496	0.89[EUR][1000 genomes]
rs3858498	0.89[EUR][1000 genomes]
rs3858506	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3858507	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3890009	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3901226	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3911833	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3928366	0.89[EUR][1000 genomes]
rs4083362	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4756910	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4756912	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4757570	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61880586	0.87[EUR][1000 genomes]
rs6416178	0.91[EUR][1000 genomes]
rs6486390	0.91[EUR][1000 genomes]
rs7101870	0.80[EUR][1000 genomes]
rs7106809	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107526	0.86[EUR][1000 genomes]
rs7123420	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7128599	0.89[EUR][1000 genomes]
rs7478812	0.88[EUR][1000 genomes]
rs7930233	0.85[EUR][1000 genomes]
rs7937727	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040065	chr11:17556031-17753467	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1044126	chr11:17557715-17730646	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv540953	chr11:17557715-17730646	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv467717	chr11:17713507-17791822	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv553588	chr11:17713507-17791822	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3415801	chr11:17721027-17721426	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17713200-17721800	Enhancers	Psoas Muscle	Psoas
2	chr11:17715200-17722000	Enhancers	HSMM	muscle
3	chr11:17717600-17721800	Enhancers	HSMMtube	muscle
4	chr11:17719000-17724400	Enhancers	Fetal Muscle Leg	muscle
5	chr11:17720600-17721200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr11:17720600-17721200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr11:17720800-17721200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:17720800-17721200	Enhancers	Hela-S3	cervix
9	chr11:17720800-17721600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr11:17720800-17721800	Enhancers	Placenta	Placenta
11	chr11:17720800-17721800	Enhancers	K562	blood
12	chr11:17721000-17721400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:17721000-17721800	Enhancers	Fetal Muscle Trunk	muscle
14	chr11:17721000-17722200	Weak transcription	Fetal Lung	lung

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