Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10789044	0.91[AMR][1000 genomes]
rs10789045	0.91[AMR][1000 genomes]
rs10889026	0.91[AMR][1000 genomes]
rs12034636	0.91[AMR][1000 genomes]
rs12073675	0.83[EUR][1000 genomes]
rs12120310	0.91[AMR][1000 genomes]
rs12123599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1413226	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1504589	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17482565	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17541356	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17541479	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4912429	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4912430	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4912431	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs4912432	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs55944821	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6670988	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6680219	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7548633	0.87[AMR][1000 genomes]
rs7552759	0.95[AFR][1000 genomes];0.92[AMR][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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57624000-57644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:57633400-57639800	Weak transcription	Fetal Intestine Large	intestine
3	chr1:57636600-57641400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:57637600-57639800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:57637600-57641400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:57637800-57640800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:57638200-57639400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:57638600-57644800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr1:57638800-57639600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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