Variant report

Variant	rs72738582
Chromosome Location	chr1:192949649-192949650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10754036	0.85[AMR][1000 genomes]
rs10801165	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10921296	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10921298	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10921299	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10921300	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11507871	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11507872	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12117621	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12117656	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12118267	0.85[AMR][1000 genomes]
rs12125252	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12125347	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12132131	0.85[AMR][1000 genomes]
rs12138298	0.83[AMR][1000 genomes]
rs12143913	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1339591	0.91[AMR][1000 genomes]
rs1339593	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1615218	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1769054	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2066216	0.89[EUR][1000 genomes]
rs2486496	0.91[AMR][1000 genomes]
rs28461227	0.89[EUR][1000 genomes]
rs6428143	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6700102	0.84[EUR][1000 genomes]
rs6701258	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs710140	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs710141	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72738564	0.83[AMR][1000 genomes]
rs72738565	0.83[AMR][1000 genomes]
rs72738572	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72738574	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72738576	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72738577	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7415619	0.83[AMR][1000 genomes]
rs7512163	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7512241	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7513985	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7547423	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs842792	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842793	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842794	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842798	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842802	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842803	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842812	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs842815	0.91[AMR][1000 genomes]
rs844528	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9427824	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9427825	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs946557	0.91[AMR][1000 genomes];0.90[EUR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762039	chr1:192944821-192949840	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192937000-192963400	Weak transcription	Aorta	Aorta
2	chr1:192938000-192972800	Weak transcription	Psoas Muscle	Psoas
3	chr1:192944000-192949800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:192944000-192951400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:192944000-192961800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:192944000-192962800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:192944000-192963000	Weak transcription	Pancreas	Pancrea
8	chr1:192944200-192963200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:192944400-192962800	Weak transcription	Osteobl	bone
10	chr1:192947000-192968800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:192947600-192952600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:192948000-192966800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:192948600-192949800	Weak transcription	K562	blood
14	chr1:192948800-192952400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:192949200-192963200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:192949600-192950000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:192949600-192950400	Enhancers	Fetal Muscle Leg	muscle
18	chr1:192949600-192950800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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