Variant report

Variant	rs72648531
Chromosome Location	chr8:61321270-61321271
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	chr8:61315548..61318630-chr8:61319690..61322497,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs16918852	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16926096	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16926104	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16926111	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16926133	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926137	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926155	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926208	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926270	0.82[ASN][1000 genomes]
rs1893273	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1941462	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1989747	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1989748	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2186985	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55761966	0.82[ASN][1000 genomes]
rs55831959	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55841758	0.82[ASN][1000 genomes]
rs56030634	0.82[ASN][1000 genomes]
rs56114656	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56141796	0.82[ASN][1000 genomes]
rs56160504	0.82[ASN][1000 genomes]
rs56165842	0.82[ASN][1000 genomes]
rs56342714	0.82[ASN][1000 genomes]
rs57297574	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57459725	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59861870	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60012828	0.82[ASN][1000 genomes]
rs60183060	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60991551	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61120651	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6980590	0.82[ASN][1000 genomes]
rs6981694	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983084	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7016685	0.82[ASN][1000 genomes]
rs72648528	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72648529	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72648552	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72648553	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72648562	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72648567	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72648576	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72648589	0.81[ASN][1000 genomes]
rs7817790	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7825009	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7825055	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7829407	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830976	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs922611	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr8:61309000-61330000	Weak transcription	Right Atrium	heart
2	chr8:61317000-61321800	Weak transcription	Fetal Heart	heart
3	chr8:61319000-61321600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:61319800-61324600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:61320000-61325400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:61320000-61325400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:61320200-61325400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:61320400-61323800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:61320600-61325200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:61321200-61325000	Weak transcription	Fetal Intestine Small	intestine

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