Variant report

Variant	rs7710569
Chromosome Location	chr5:106552850-106552851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10043144	0.89[ASN][1000 genomes]
rs10060196	0.82[EUR][1000 genomes]
rs11242632	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1159077	0.88[ASN][1000 genomes]
rs1159078	0.88[ASN][1000 genomes]
rs12522490	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12522515	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1345636	0.90[ASN][1000 genomes]
rs1345637	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1363311	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1363313	0.90[ASN][1000 genomes]
rs1549175	0.85[ASN][1000 genomes]
rs1990908	0.81[ASN][1000 genomes]
rs2410940	0.80[EUR][1000 genomes]
rs2410941	0.82[ASN][1000 genomes]
rs2410943	0.80[EUR][1000 genomes]
rs2410945	0.82[EUR][1000 genomes]
rs2410946	0.91[EUR][1000 genomes]
rs2410947	0.82[EUR][1000 genomes]
rs2410948	0.82[EUR][1000 genomes]
rs2410949	0.82[EUR][1000 genomes]
rs2410952	0.92[EUR][1000 genomes]
rs35814230	0.89[ASN][1000 genomes]
rs4143065	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245993	0.91[EUR][1000 genomes]
rs4572985	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4631165	0.88[EUR][1000 genomes]
rs4637535	0.82[EUR][1000 genomes]
rs4957690	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55689542	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6596720	0.88[EUR][1000 genomes]
rs6596721	0.80[EUR][1000 genomes]
rs6596722	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6596730	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6862498	0.80[ASN][1000 genomes]
rs6871050	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6871532	0.90[EUR][1000 genomes]
rs6878038	0.90[EUR][1000 genomes]
rs6881511	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6888773	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6892104	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7706390	0.91[EUR][1000 genomes]
rs7710297	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7710595	0.81[ASN][1000 genomes]
rs7733658	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7736860	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv823170	chr5:106326293-106673695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2752056	chr5:106422649-106563101	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv882680	chr5:106493350-106573961	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv882681	chr5:106508913-106573961	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106547800-106553200	Weak transcription	Brain Germinal Matrix	brain
2	chr5:106551000-106554600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:106551000-106555000	Enhancers	NHEK	skin
4	chr5:106551200-106554200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:106551200-106555200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:106551400-106554800	Enhancers	Fetal Heart	heart
7	chr5:106551400-106555200	Enhancers	HMEC	breast
8	chr5:106551600-106555400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr5:106551800-106553000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:106551800-106553200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr5:106551800-106557200	Weak transcription	Right Ventricle	heart
12	chr5:106552000-106553200	Weak transcription	HUVEC	blood vessel
13	chr5:106552000-106553400	Weak transcription	HSMM	muscle
14	chr5:106552400-106553800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:106552400-106554000	Enhancers	Fetal Muscle Leg	muscle
16	chr5:106552400-106554200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:106552400-106554800	Enhancers	Aorta	Aorta
18	chr5:106552600-106553600	Weak transcription	Esophagus	oesophagus
19	chr5:106552600-106557200	Weak transcription	Lung	lung
20	chr5:106552800-106553000	Weak transcription	Psoas Muscle	Psoas
21	chr5:106552800-106554200	Enhancers	Stomach Smooth Muscle	stomach

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