Variant report

Variant	rs12538344
Chromosome Location	chr7:103329973-103329974
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:103317265..103318877-chr7:103327937..103330209,2	K562	blood:
2	chr7:103326182..103328296-chr7:103329519..103331647,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10238708	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10253903	0.81[ASN][1000 genomes]
rs10264864	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10268693	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10280477	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10280665	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10280766	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10281266	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10435337	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12535373	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12538423	0.80[EUR][1000 genomes]
rs12540537	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1355354	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1355355	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17154633	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1912552	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2073558	0.81[AMR][1000 genomes]
rs2106174	0.83[AMR][1000 genomes]
rs2283024	0.82[EUR][1000 genomes]
rs2283027	0.82[EUR][1000 genomes]
rs2283028	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2299359	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299360	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2299372	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2299374	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2299375	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2384931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213613	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3819452	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3819456	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55788097	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56053752	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56200539	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56202465	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58025040	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59405792	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61328831	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62482634	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62482637	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62482645	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6954563	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6958433	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6969389	0.80[AMR][1000 genomes]
rs713080	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7793762	0.81[ASN][1000 genomes]
rs7798414	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs975743	0.82[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	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv427799	chr7:103250733-103454202	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1835816	chr7:103255144-103354223	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103321800-103330800	Weak transcription	K562	blood
2	chr7:103326000-103331600	Enhancers	Brain Germinal Matrix	brain
3	chr7:103328800-103330200	Strong transcription	HepG2	liver
4	chr7:103329600-103331400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:103329800-103330200	Enhancers	Fetal Brain Female	brain
6	chr7:103329800-103330400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr7:103329800-103331200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:103329800-103331200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links