Variant report

Variant	rs488405
Chromosome Location	chr1:57716011-57716012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10889033	0.83[EUR][1000 genomes]
rs11207002	0.94[EUR][1000 genomes]
rs1149628	0.88[ASN][1000 genomes]
rs11587719	0.95[EUR][1000 genomes]
rs12088611	0.84[EUR][1000 genomes]
rs12143340	0.94[EUR][1000 genomes]
rs1424473	0.90[ASN][1000 genomes]
rs1811699	0.94[EUR][1000 genomes]
rs1811700	0.83[EUR][1000 genomes]
rs1910690	0.97[ASN][1000 genomes]
rs197625	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs197626	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs197627	0.84[EUR][1000 genomes]
rs197638	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs197643	0.96[EUR][1000 genomes]
rs197644	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197645	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs197647	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs197649	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs197650	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2251472	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2656093	0.86[ASN][1000 genomes]
rs2656094	0.81[ASN][1000 genomes]
rs2764665	0.90[ASN][1000 genomes]
rs471548	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs486809	0.88[ASN][1000 genomes]
rs492781	0.88[ASN][1000 genomes]
rs492905	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492986	0.86[EUR][1000 genomes]
rs493846	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515802	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524171	0.86[EUR][1000 genomes]
rs529527	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs537441	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs539229	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs542873	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs542949	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs572092	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs583845	0.96[EUR][1000 genomes]
rs584147	0.97[ASN][1000 genomes]
rs587046	0.86[ASN][1000 genomes]
rs593154	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595568	0.85[ASN][1000 genomes]
rs597941	0.84[ASN][1000 genomes]
rs611276	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs614488	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs627489	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs627550	0.89[ASN][1000 genomes]
rs627936	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs655277	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs657612	0.86[ASN][1000 genomes]
rs659069	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs663975	0.86[ASN][1000 genomes]
rs66894620	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs669931	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs675075	0.86[ASN][1000 genomes]
rs686702	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693942	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706385	0.88[ASN][1000 genomes]
rs7529737	0.85[EUR][1000 genomes]
rs924850	0.83[EUR][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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57712400-57718800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57712400-57728000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:57712600-57727800	Weak transcription	Fetal Intestine Large	intestine
4	chr1:57712800-57731200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:57715200-57716600	Enhancers	Fetal Brain Female	brain
6	chr1:57715200-57718400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:57715800-57718600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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