Variant report

Variant	rs952703
Chromosome Location	chr1:57493832-57493833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11206954	0.84[ASN][1000 genomes]
rs11206955	0.86[ASN][1000 genomes]
rs11206958	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206961	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11206962	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11589281	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11810899	0.90[ASN][1000 genomes]
rs12035887	0.86[ASN][1000 genomes]
rs12036280	0.82[ASN][1000 genomes]
rs12062362	0.90[ASN][1000 genomes]
rs12082861	0.94[ASN][1000 genomes]
rs12118564	0.94[ASN][1000 genomes]
rs12144161	0.90[ASN][1000 genomes]
rs1329448	0.90[ASN][1000 genomes]
rs1329451	0.84[ASN][1000 genomes]
rs17114816	0.86[ASN][1000 genomes]
rs1831871	0.86[ASN][1000 genomes]
rs1854508	0.89[ASN][1000 genomes]
rs2026083	0.82[ASN][1000 genomes]
rs3738558	0.90[ASN][1000 genomes]
rs3754268	0.90[ASN][1000 genomes]
rs3768200	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3768201	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768202	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768203	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768204	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768205	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768206	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768209	0.86[ASN][1000 genomes]
rs3768211	0.85[ASN][1000 genomes]
rs3820578	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3820579	0.90[ASN][1000 genomes]
rs3820581	0.86[ASN][1000 genomes]
rs4912233	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4912420	0.81[ASN][1000 genomes]
rs4912422	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4912423	0.99[ASN][1000 genomes]
rs6668269	0.89[ASN][1000 genomes]
rs6676740	0.90[ASN][1000 genomes]
rs6679906	0.90[ASN][1000 genomes]
rs6681325	0.98[ASN][1000 genomes]
rs697580	0.87[ASN][1000 genomes]
rs706353	0.90[ASN][1000 genomes]
rs706357	0.90[ASN][1000 genomes]
rs706360	0.90[ASN][1000 genomes]
rs706364	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917455	0.81[ASN][1000 genomes]
rs7533953	0.85[ASN][1000 genomes]
rs835447	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs944923	0.89[ASN][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	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	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57483200-57494000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:57485200-57494800	Weak transcription	Fetal Brain Female	brain
3	chr1:57485400-57498000	Weak transcription	Liver	Liver
4	chr1:57486000-57502600	Weak transcription	Fetal Brain Male	brain
5	chr1:57487800-57498800	Weak transcription	Fetal Intestine Large	intestine
6	chr1:57491400-57494400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:57491400-57494600	Weak transcription	Fetal Intestine Small	intestine
8	chr1:57491400-57494800	Weak transcription	Brain Germinal Matrix	brain
9	chr1:57491400-57495000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:57493000-57494600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:57493000-57497000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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