Variant report

Variant	rs267646
Chromosome Location	chr1:57788853-57788854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1077424	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1077425	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10889034	0.83[ASN][1000 genomes]
rs10889035	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10889036	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10889037	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11207010	0.90[ASN][1000 genomes]
rs11207011	0.87[ASN][1000 genomes]
rs11207012	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11207013	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11207014	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11207015	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11207017	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1149630	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12061812	0.81[ASN][1000 genomes]
rs12085326	0.93[ASN][1000 genomes]
rs12087888	0.90[ASN][1000 genomes]
rs12119147	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12119210	0.83[EUR][1000 genomes]
rs12126723	0.83[EUR][1000 genomes]
rs12128305	0.83[ASN][1000 genomes]
rs12137583	0.81[ASN][1000 genomes]
rs12142821	0.81[ASN][1000 genomes]
rs1240439	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12741210	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1424465	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1424470	0.83[EUR][1000 genomes]
rs1504594	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs166514	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17456661	0.81[ASN][1000 genomes]
rs1809976	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1862925	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2113456	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2161808	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2405696	0.80[ASN][1000 genomes]
rs267638	0.93[ASN][1000 genomes]
rs267647	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs267650	0.90[ASN][1000 genomes]
rs28706213	0.86[ASN][1000 genomes]
rs35804651	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs374845	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs390203	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs439378	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4912162	0.81[ASN][1000 genomes]
rs4912163	0.81[ASN][1000 genomes]
rs4912237	0.81[ASN][1000 genomes]
rs55863020	0.81[ASN][1000 genomes]
rs61769668	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6665166	0.81[ASN][1000 genomes]
rs6669975	0.80[ASN][1000 genomes]
rs6677561	0.83[EUR][1000 genomes]
rs6687934	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs736109	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs736110	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs746937	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7535763	0.80[ASN][1000 genomes]
rs7543805	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7547412	0.82[ASN][1000 genomes]
rs7547509	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs77510	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs77511	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs882283	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs90940	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs924848	0.83[ASN][1000 genomes]
rs94216	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	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
3	nsv871943	chr1:57784144-57855876	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	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	chr1:57773200-57790200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:57776600-57790200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:57785200-57790000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:57785200-57793800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:57785400-57790400	Weak transcription	Fetal Brain Female	brain
6	chr1:57786000-57789800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:57786000-57790200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:57787200-57793800	Weak transcription	Fetal Brain Male	brain
9	chr1:57787600-57789800	Weak transcription	Fetal Intestine Large	intestine

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