Variant report

Variant	rs1983587
Chromosome Location	chr1:71468452-71468453
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:71467023..71468927-chr1:71512007..71514052,2	K562	blood:

Variant related genes	Relation type
ENSG00000050628	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1005748	0.84[AMR][1000 genomes]
rs1005749	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1008484	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10736414	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10789314	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889907	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12119848	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12122320	0.84[AMR][1000 genomes]
rs12131077	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12131515	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12142055	0.84[AMR][1000 genomes]
rs12145536	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12145635	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1474663	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17542551	0.81[EUR][1000 genomes]
rs2206344	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244018	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247098	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421732	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744897	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2744898	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2744900	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2744902	0.86[EUR][1000 genomes]
rs2744905	0.81[EUR][1000 genomes]
rs2744906	0.84[AMR][1000 genomes]
rs2744907	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2744908	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2744916	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744918	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2817857	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2817860	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3000466	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs493489	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs496216	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs508513	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs510414	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs532693	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs579558	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs584532	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61777272	0.84[AMR][1000 genomes]
rs61777274	0.84[AMR][1000 genomes]
rs61778911	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61778912	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6424415	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs651265	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs653699	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs657265	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6670515	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679003	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6690000	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671088	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72671095	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7529930	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs847704	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs847705	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs847735	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs880099	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9970600	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	nsv830148	chr1:71310366-71483932	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv461840	chr1:71364105-71468493	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv546471	chr1:71364105-71468493	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	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
6	nsv1003555	chr1:71415135-71471875	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv516212	chr1:71421564-71468493	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv871222	chr1:71427842-71473791	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	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

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71465800-71485000	Weak transcription	Pancreas	Pancrea
2	chr1:71466000-71475200	Weak transcription	K562	blood
3	chr1:71467400-71469600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:71467800-71475400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:71468400-71472800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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