Variant report

Variant	rs2048022
Chromosome Location	chr4:97233677-97233678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 137 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10002816	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10004804	0.84[EUR][1000 genomes]
rs10006557	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10007900	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10015613	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10016180	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10021889	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10213429	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10856919	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11097501	0.91[ASN][1000 genomes]
rs11097502	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11097505	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11932384	0.86[ASN][1000 genomes]
rs11935830	0.90[ASN][1000 genomes]
rs12499067	0.84[ASN][1000 genomes]
rs12501360	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12508802	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12509883	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12642471	0.87[ASN][1000 genomes]
rs12644982	0.86[ASN][1000 genomes]
rs12650441	0.95[ASN][1000 genomes]
rs13102896	0.81[ASN][1000 genomes]
rs13104802	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13121458	0.91[ASN][1000 genomes]
rs13122821	0.91[ASN][1000 genomes]
rs13122856	0.92[ASN][1000 genomes]
rs13150508	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1354704	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1354706	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1373331	0.86[ASN][1000 genomes]
rs1395199	0.95[ASN][1000 genomes]
rs1425361	0.83[ASN][1000 genomes]
rs1444021	0.91[ASN][1000 genomes]
rs1506304	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1506305	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1506306	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1506317	0.93[ASN][1000 genomes]
rs1506318	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1506319	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1506320	0.91[ASN][1000 genomes]
rs1506321	0.90[ASN][1000 genomes]
rs1567036	0.92[ASN][1000 genomes]
rs1605227	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17025493	0.87[ASN][1000 genomes]
rs1834360	0.83[ASN][1000 genomes]
rs1847963	0.95[ASN][1000 genomes]
rs1847964	0.85[ASN][1000 genomes]
rs1847966	0.86[ASN][1000 genomes]
rs1847967	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1847968	0.91[ASN][1000 genomes]
rs1847969	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1857889	0.95[ASN][1000 genomes]
rs1857890	0.88[ASN][1000 genomes]
rs1867400	0.91[ASN][1000 genomes]
rs1911074	0.91[ASN][1000 genomes]
rs1911076	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1911077	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1948912	0.88[ASN][1000 genomes]
rs2083922	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2113973	0.86[ASN][1000 genomes]
rs2174584	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2197322	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs28407945	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28523416	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28565871	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28633781	0.95[ASN][1000 genomes]
rs2865736	0.91[ASN][1000 genomes]
rs28788633	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35257138	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36039803	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4146410	0.88[ASN][1000 genomes]
rs4146411	0.88[ASN][1000 genomes]
rs4293790	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs4343731	0.87[ASN][1000 genomes]
rs4414959	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4611939	0.91[ASN][1000 genomes]
rs4613576	0.91[ASN][1000 genomes]
rs4619895	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4699283	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4699285	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699287	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4699288	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4699485	0.84[ASN][1000 genomes]
rs4699496	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4699501	0.91[ASN][1000 genomes]
rs4699503	0.87[ASN][1000 genomes]
rs4699512	0.91[ASN][1000 genomes]
rs4699513	0.91[ASN][1000 genomes]
rs5017329	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55680326	0.89[ASN][1000 genomes]
rs58334182	0.81[ASN][1000 genomes]
rs60275360	0.87[ASN][1000 genomes]
rs6532596	0.84[ASN][1000 genomes]
rs6532597	0.84[ASN][1000 genomes]
rs6532600	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6815558	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6815743	0.93[ASN][1000 genomes]
rs6816447	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6820075	0.87[ASN][1000 genomes]
rs6826156	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6826817	0.83[ASN][1000 genomes]
rs6830120	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6832934	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6835808	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6837318	0.82[CEU][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6841294	0.91[ASN][1000 genomes]
rs6855768	0.89[ASN][1000 genomes]
rs6857113	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72883800	0.88[ASN][1000 genomes]
rs72885446	0.87[ASN][1000 genomes]
rs7653937	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs766061	0.95[ASN][1000 genomes]
rs7671604	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7673756	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7676317	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7676764	0.84[ASN][1000 genomes]
rs7686174	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7690397	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9307167	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9307168	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931841	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs931842	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs938547	0.80[ASN][1000 genomes]
rs938548	0.80[ASN][1000 genomes]
rs9686051	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9884259	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9884940	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9998383	0.84[CEU][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9999006	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470057	chr4:97104880-97311657	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv461589	chr4:97104881-97311657	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv594916	chr4:97104881-97311657	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv879631	chr4:97114706-97263153	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879632	chr4:97118539-97308914	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv879633	chr4:97125086-97263153	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv461590	chr4:97197036-97266060	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv594917	chr4:97197036-97266060	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2048022	ADH1A	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:97230000-97237000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:97233200-97233800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:97233200-97233800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:97233200-97233800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:97233200-97233800	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr4:97233200-97233800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr4:97233200-97233800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr4:97233200-97233800	Active TSS	Right Atrium	heart
9	chr4:97233200-97233800	Active TSS	HMEC	breast
10	chr4:97233200-97234400	Enhancers	Fetal Intestine Small	intestine
11	chr4:97233400-97233800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr4:97233400-97233800	Active TSS	Aorta	Aorta
13	chr4:97233600-97233800	Enhancers	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links