Variant report

Variant	rs508389
Chromosome Location	chr1:57755638-57755639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10889033	0.83[ASN][1000 genomes]
rs11207002	0.83[ASN][1000 genomes]
rs11207005	0.81[ASN][1000 genomes]
rs11587719	0.83[ASN][1000 genomes]
rs12088611	0.83[ASN][1000 genomes]
rs12135189	0.80[ASN][1000 genomes]
rs12143340	0.83[ASN][1000 genomes]
rs1424473	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1811699	0.83[ASN][1000 genomes]
rs1811700	0.83[ASN][1000 genomes]
rs197643	0.83[ASN][1000 genomes]
rs197647	0.83[ASN][1000 genomes]
rs197650	0.83[ASN][1000 genomes]
rs1991093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2432690	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2656093	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2656095	0.85[ASN][1000 genomes]
rs2764664	0.94[ASN][1000 genomes]
rs2764666	0.94[ASN][1000 genomes]
rs471548	0.83[ASN][1000 genomes]
rs485723	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs486809	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs487566	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs492781	0.84[EUR][1000 genomes]
rs492986	0.81[ASN][1000 genomes]
rs499397	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs501921	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs501970	0.90[ASN][1000 genomes]
rs511707	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs524171	0.81[ASN][1000 genomes]
rs545582	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs545671	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs561531	0.94[ASN][1000 genomes]
rs568843	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs576038	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs581886	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs583845	0.81[ASN][1000 genomes]
rs587046	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs595513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs595568	0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs597941	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs610360	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs611606	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs620214	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs622423	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs632935	0.85[ASN][1000 genomes]
rs634391	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs637379	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs642526	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs643382	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs648607	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs657612	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs663975	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs674966	0.94[ASN][1000 genomes]
rs675075	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs680197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706385	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7529737	0.83[ASN][1000 genomes]
rs833626	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs924850	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57747600-57769400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:57751600-57765600	Weak transcription	Fetal Intestine Small	intestine
3	chr1:57751600-57770600	Weak transcription	Fetal Intestine Large	intestine
4	chr1:57753000-57759400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:57755000-57756200	Enhancers	Fetal Brain Female	brain
6	chr1:57755400-57756200	Enhancers	Fetal Brain Male	brain

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