Variant report

Variant	rs72724608
Chromosome Location	chr1:85852755-85852756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1006989	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs10489510	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10747318	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10782549	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873701	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873702	0.86[AFR][1000 genomes]
rs11161611	0.87[AFR][1000 genomes]
rs12022248	1.00[ASN][1000 genomes]
rs12029221	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12033483	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12034249	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12035116	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12038426	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12042780	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12047189	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1261681	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1342323	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357635	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1357636	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1391556	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1523995	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1554597	0.87[AFR][1000 genomes]
rs1608537	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17384213	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17388696	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1965876	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1975755	0.82[AFR][1000 genomes]
rs2011825	0.90[AFR][1000 genomes]
rs2016104	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2037594	0.84[EUR][1000 genomes]
rs2064510	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2124139	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2124140	0.82[ASN][1000 genomes]
rs2177461	0.90[AFR][1000 genomes]
rs2207368	0.90[AFR][1000 genomes]
rs2300633	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2389948	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3851268	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3949301	0.90[AFR][1000 genomes]
rs4428939	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4512701	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4631749	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4949889	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4949897	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4949898	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4949899	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs499869	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs539714	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs600098	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs604974	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs631817	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6420965	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6576767	0.86[AFR][1000 genomes]
rs659070	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6657817	0.87[AFR][1000 genomes]
rs6671599	0.82[AFR][1000 genomes]
rs6672870	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6704103	0.87[AFR][1000 genomes]
rs67611930	0.90[AFR][1000 genomes]
rs72722663	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72722671	0.93[ASN][1000 genomes]
rs72722691	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72722692	0.81[AMR][1000 genomes]
rs72724606	0.91[AFR][1000 genomes]
rs731194	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7515261	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7539738	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7546931	0.85[AFR][1000 genomes]
rs7555670	0.85[EUR][1000 genomes]
rs990916	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85839800-85864200	Weak transcription	Aorta	Aorta
2	chr1:85841200-85859800	Weak transcription	NH-A	brain
3	chr1:85845000-85852800	Strong transcription	Osteobl	bone
4	chr1:85845000-85870000	Weak transcription	HSMMtube	muscle
5	chr1:85845800-85859800	Weak transcription	NHLF	lung
6	chr1:85846200-85852800	Strong transcription	HSMM	muscle
7	chr1:85849200-85853000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:85849400-85861600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:85849400-85863400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:85850200-85853200	Weak transcription	NHDF-Ad	bronchial
11	chr1:85850200-85853600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:85850200-85854400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:85850800-85853600	Weak transcription	HUVEC	blood vessel
14	chr1:85850800-85853800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:85850800-85863600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:85851000-85853200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:85851000-85853200	Weak transcription	Fetal Lung	lung
18	chr1:85851200-85853600	Enhancers	Liver	Liver
19	chr1:85851400-85852800	Enhancers	Pancreas	Pancrea
20	chr1:85851400-85853800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:85851600-85852800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:85851600-85853400	Enhancers	HepG2	liver
23	chr1:85851600-85854600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:85852000-85853800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr1:85852200-85852800	ZNF genes & repeats	Fetal Intestine Small	intestine
26	chr1:85852400-85853200	Weak transcription	Fetal Intestine Large	intestine
27	chr1:85852400-85863400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:85852400-85864200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:85852600-85853800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:85852600-85860000	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links