Variant report

Variant	rs2744900
Chromosome Location	chr1:71504390-71504391
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	chr1:71498308..71501736-chr1:71503473..71506751,3	K562	blood:
2	chr1:71499849..71501736-chr1:71503385..71504973,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1005748	0.90[AMR][1000 genomes]
rs1005749	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1008484	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10736414	0.91[EUR][1000 genomes]
rs10789314	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10889906	0.89[ASN][1000 genomes]
rs10889907	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12119848	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12122320	0.90[AMR][1000 genomes]
rs12131077	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12131515	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12142055	0.90[AMR][1000 genomes]
rs12145536	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12145635	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1474663	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17542551	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1983587	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2050065	0.89[ASN][1000 genomes]
rs2206344	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2244018	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2247098	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2421732	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2744897	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744898	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2744902	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2744905	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2744906	0.95[AMR][1000 genomes]
rs2744907	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2744908	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2744916	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2744918	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2817857	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2817860	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3000466	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs493489	0.87[EUR][1000 genomes]
rs496216	0.87[EUR][1000 genomes]
rs508513	0.91[EUR][1000 genomes]
rs510414	0.87[EUR][1000 genomes]
rs532693	0.89[EUR][1000 genomes]
rs579558	0.89[EUR][1000 genomes]
rs584532	0.89[EUR][1000 genomes]
rs61777272	0.90[AMR][1000 genomes]
rs61777274	0.90[AMR][1000 genomes]
rs61778911	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61778912	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6424415	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs651265	0.89[EUR][1000 genomes]
rs653699	0.89[EUR][1000 genomes]
rs657265	0.89[EUR][1000 genomes]
rs6670515	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6679003	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6690000	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72671088	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72671095	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7529930	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs847704	0.89[EUR][1000 genomes]
rs847705	0.89[EUR][1000 genomes]
rs847735	0.82[EUR][1000 genomes]
rs880099	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9970600	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	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
4	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
5	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
6	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

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71492800-71504400	Weak transcription	Gastric	stomach
2	chr1:71496000-71506200	Weak transcription	Fetal Stomach	stomach
3	chr1:71497600-71510600	Weak transcription	Aorta	Aorta
4	chr1:71499000-71505800	Weak transcription	NHDF-Ad	bronchial
5	chr1:71503000-71505000	Genic enhancers	K562	blood
6	chr1:71503000-71511200	Weak transcription	Pancreas	Pancrea
7	chr1:71503200-71506000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:71503600-71504400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:71503800-71504400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:71504200-71505000	Enhancers	Adipose Nuclei	Adipose

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