Variant report

Variant	rs28614003
Chromosome Location	chr1:247179352-247179353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10802462	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10924892	1.00[ASN][1000 genomes]
rs10924895	1.00[ASN][1000 genomes]
rs10924896	1.00[ASN][1000 genomes]
rs10924897	1.00[ASN][1000 genomes]
rs10924899	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1112137	1.00[ASN][1000 genomes]
rs12060791	1.00[ASN][1000 genomes]
rs12116484	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118487	1.00[ASN][1000 genomes]
rs12120876	0.88[EUR][1000 genomes]
rs12122044	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122047	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122290	1.00[ASN][1000 genomes]
rs12123948	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130075	1.00[ASN][1000 genomes]
rs12131419	1.00[ASN][1000 genomes]
rs12135842	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135986	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139893	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141232	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141355	1.00[ASN][1000 genomes]
rs12142305	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144260	1.00[ASN][1000 genomes]
rs12563431	0.82[EUR][1000 genomes]
rs1565897	1.00[ASN][1000 genomes]
rs1573897	1.00[ASN][1000 genomes]
rs2055191	1.00[ASN][1000 genomes]
rs2055192	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172973	1.00[ASN][1000 genomes]
rs2379189	0.88[EUR][1000 genomes]
rs2380113	1.00[ASN][1000 genomes]
rs2642957	0.86[EUR][1000 genomes]
rs2642974	0.86[EUR][1000 genomes]
rs2642978	0.86[EUR][1000 genomes]
rs2818872	0.86[EUR][1000 genomes]
rs2818874	0.90[EUR][1000 genomes]
rs2818893	0.86[EUR][1000 genomes]
rs28540229	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41310567	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4319379	1.00[ASN][1000 genomes]
rs4634944	1.00[ASN][1000 genomes]
rs4925540	1.00[ASN][1000 genomes]
rs4925622	1.00[ASN][1000 genomes]
rs4971315	1.00[ASN][1000 genomes]
rs4971316	1.00[ASN][1000 genomes]
rs4971317	1.00[ASN][1000 genomes]
rs4971319	1.00[ASN][1000 genomes]
rs55984722	1.00[ASN][1000 genomes]
rs56884994	1.00[ASN][1000 genomes]
rs59525684	1.00[ASN][1000 genomes]
rs61373194	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61498462	1.00[ASN][1000 genomes]
rs61852608	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61852610	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61852625	0.83[EUR][1000 genomes]
rs61852630	1.00[ASN][1000 genomes]
rs61852637	1.00[ASN][1000 genomes]
rs61852638	1.00[ASN][1000 genomes]
rs61852639	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61852640	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61852641	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61852642	1.00[ASN][1000 genomes]
rs61852646	0.89[AMR][1000 genomes]
rs6426214	1.00[ASN][1000 genomes]
rs6426216	1.00[ASN][1000 genomes]
rs6657686	1.00[ASN][1000 genomes]
rs6664217	1.00[ASN][1000 genomes]
rs6689229	1.00[ASN][1000 genomes]
rs6701582	1.00[ASN][1000 genomes]
rs72768397	1.00[ASN][1000 genomes]
rs7418825	1.00[ASN][1000 genomes]
rs7511962	1.00[ASN][1000 genomes]
rs7512099	1.00[ASN][1000 genomes]
rs7512150	1.00[ASN][1000 genomes]
rs7513678	1.00[ASN][1000 genomes]
rs7518427	1.00[ASN][1000 genomes]
rs7519795	1.00[ASN][1000 genomes]
rs7521422	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522300	1.00[ASN][1000 genomes]
rs7526191	1.00[ASN][1000 genomes]
rs7535251	1.00[ASN][1000 genomes]
rs7535264	1.00[ASN][1000 genomes]
rs7542852	1.00[ASN][1000 genomes]
rs7543803	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7546342	1.00[ASN][1000 genomes]
rs7546777	1.00[ASN][1000 genomes]
rs7547915	1.00[ASN][1000 genomes]
rs7549105	1.00[ASN][1000 genomes]
rs7549410	1.00[ASN][1000 genomes]
rs7549531	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551896	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv1000602	chr1:247044627-247226568	Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv535417	chr1:247094131-247409000	ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
8	nsv1005639	chr1:247094161-247401380	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
9	nsv535418	chr1:247094161-247401380	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv999879	chr1:247112207-247276918	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv916236	chr1:247124353-247409065	Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
12	nsv948419	chr1:247130577-247400404	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
13	nsv873427	chr1:247140425-247218227	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv549546	chr1:247145690-247205056	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	esv3368851	chr1:247170017-247195360	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1012616	chr1:247173851-247365588	Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
17	nsv535420	chr1:247173851-247365588	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
18	nsv1002438	chr1:247173851-247401380	ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247179000-247179400	Enhancers	Placenta	Placenta

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