Variant report

Variant	rs12538348
Chromosome Location	chr7:68982336-68982337
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10256483	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10257731	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10265122	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10281633	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10950189	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10950190	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11771876	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155091	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12530810	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12531644	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12698802	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12698803	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12698804	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13243683	0.91[EUR][1000 genomes]
rs13246613	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1541427	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17137493	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1981585	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1981586	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2108046	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2865169	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28758447	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35245526	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41862	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41863	0.84[EUR][1000 genomes]
rs41865	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4268006	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55714924	0.91[EUR][1000 genomes]
rs56854903	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6460521	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6944163	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6946622	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975413	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6979168	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73437648	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7785268	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7810187	0.86[AMR][1000 genomes];0.92[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	nsv1023885	chr7:68894896-69158290	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538915	chr7:68894896-69158290	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv5782	chr7:68946883-68991904	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:68975400-68983000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:68981200-68983400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:68981200-68983400	Weak transcription	Fetal Heart	heart
4	chr7:68981400-68982600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:68981400-68982800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:68981400-68982800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:68981400-68983000	Weak transcription	Brain Angular Gyrus	brain
8	chr7:68981400-68983000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:68981400-68983000	Weak transcription	Psoas Muscle	Psoas
10	chr7:68981400-68983400	Weak transcription	Right Atrium	heart
11	chr7:68981600-68982400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:68981600-68983000	Weak transcription	Fetal Brain Male	brain
13	chr7:68981800-68983000	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:68981800-68983000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:68981800-68983000	Weak transcription	Brain Substantia Nigra	brain
16	chr7:68982000-68983000	Weak transcription	Brain Anterior Caudate	brain

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