Variant report

Variant	rs2817860
Chromosome Location	chr1:71487385-71487386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71486485..71490048-chr1:71491402..71493576,3	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1005748	0.87[AMR][1000 genomes]
rs1005749	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1008484	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736414	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10789314	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889907	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12119848	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12122320	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12131077	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12131515	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12142055	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12145536	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12145635	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1474663	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17542551	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1983587	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2206344	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244018	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247098	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421732	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744897	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2744898	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2744900	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2744902	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2744905	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2744906	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2744907	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2744908	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2744916	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744918	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2817857	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3000466	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs493489	0.91[EUR][1000 genomes]
rs496216	0.91[EUR][1000 genomes]
rs508513	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs510414	0.91[EUR][1000 genomes]
rs532693	0.93[EUR][1000 genomes]
rs579558	0.93[EUR][1000 genomes]
rs584532	0.93[EUR][1000 genomes]
rs61777272	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61777274	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61778911	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61778912	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6424415	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs651265	0.93[EUR][1000 genomes]
rs653699	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs657265	0.93[EUR][1000 genomes]
rs6670515	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679003	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6690000	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671088	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72671095	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7529930	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs847704	0.93[EUR][1000 genomes]
rs847705	0.93[EUR][1000 genomes]
rs847735	0.86[EUR][1000 genomes]
rs880099	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9970600	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845198	chr1:71274759-71514969	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv871313	chr1:71391646-71489438	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1008902	chr1:71417926-71488139	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv534989	chr1:71417926-71488139	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv546472	chr1:71432984-71541003	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	555 gene(s)	inside rSNPs	diseases
6	nsv461851	chr1:71442626-71507541	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
7	nsv546473	chr1:71442626-71507541	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
8	esv1850593	chr1:71444149-71514969	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv870843	chr1:71465292-71489438	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
10	nsv870576	chr1:71469583-71489438	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
11	nsv871812	chr1:71481050-71489438	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
12	nsv871242	chr1:71481050-71519326	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv871147	chr1:71484567-71494365	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	esv3320182	chr1:71487040-71489912	Enhancers Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
15	esv3320180	chr1:71487061-71489915	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
16	esv3320181	chr1:71487108-71489861	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
17	esv3320183	chr1:71487108-71489861	Weak transcription Enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71481800-71501000	Weak transcription	K562	blood
2	chr1:71483800-71491400	Weak transcription	Aorta	Aorta
3	chr1:71485800-71494000	Weak transcription	Adipose Nuclei	Adipose
4	chr1:71486600-71488000	Weak transcription	Fetal Heart	heart
5	chr1:71487000-71491200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:71487200-71495200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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