Variant report

Variant	rs1524596
Chromosome Location	chr7:80229313-80229314
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10216184	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10238304	0.82[EUR][1000 genomes]
rs10240336	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10247260	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10261849	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10261980	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10265215	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10265457	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10265780	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10268340	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10268417	0.85[EUR][1000 genomes]
rs10268662	0.85[EUR][1000 genomes]
rs10268765	0.84[EUR][1000 genomes]
rs10275699	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12532196	0.95[EUR][1000 genomes]
rs12667404	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12706916	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13222488	0.98[EUR][1000 genomes]
rs13225492	0.96[EUR][1000 genomes]
rs13228738	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13244883	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1464792	0.95[EUR][1000 genomes]
rs1722506	0.85[EUR][1000 genomes]
rs1722507	0.85[EUR][1000 genomes]
rs17263407	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1761663	0.85[EUR][1000 genomes]
rs1949818	0.85[EUR][1000 genomes]
rs1953300	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs1984112	0.95[EUR][1000 genomes]
rs2030710	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2030711	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2065666	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2065668	0.97[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2151916	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2691199	0.85[EUR][1000 genomes]
rs2691200	0.85[EUR][1000 genomes]
rs28369066	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28600997	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28645928	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3173800	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3211816	0.87[EUR][1000 genomes]
rs3211827	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3211871	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3211886	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34493313	0.94[EUR][1000 genomes]
rs34801616	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62461673	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs62461690	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62461693	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62461695	0.96[ASN][1000 genomes]
rs62461724	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6965070	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6968407	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs6969989	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6972923	0.85[EUR][1000 genomes]
rs6973242	0.83[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs7784648	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7789369	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7795092	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7806711	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7807445	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs997906	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv831043	chr7:80119414-80322092	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948605	chr7:80119690-80298887	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1020682	chr7:80120651-80297697	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv888525	chr7:80148668-80232471	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv464606	chr7:80177084-80311794	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
7	nsv607682	chr7:80177084-80311794	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv1025144	chr7:80197286-80271841	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv525704	chr7:80203718-80236014	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80219400-80229800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:80223800-80229400	Weak transcription	Stomach Mucosa	stomach
3	chr7:80223800-80231400	Weak transcription	Right Ventricle	heart
4	chr7:80224000-80229400	Weak transcription	Psoas Muscle	Psoas
5	chr7:80224200-80229800	Weak transcription	Left Ventricle	heart
6	chr7:80225600-80229400	Weak transcription	Right Atrium	heart
7	chr7:80226400-80231400	Weak transcription	Fetal Muscle Leg	muscle
8	chr7:80226800-80231200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:80227400-80230000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:80227400-80231200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:80227400-80231400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:80227400-80238200	Weak transcription	Small Intestine	intestine
13	chr7:80227800-80231000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:80228600-80229800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr7:80229000-80230200	Enhancers	Fetal Lung	lung
16	chr7:80229000-80230400	Enhancers	Adipose Nuclei	Adipose
17	chr7:80229000-80231400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:80229200-80229400	Enhancers	Fetal Heart	heart

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