Variant report

Variant	rs12680038
Chromosome Location	chr8:112200810-112200811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10955572	0.93[ASN][1000 genomes]
rs12156391	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12676370	0.93[ASN][1000 genomes]
rs12678842	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12680509	0.98[ASN][1000 genomes]
rs12682144	0.98[ASN][1000 genomes]
rs13249608	0.98[ASN][1000 genomes]
rs13258418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13263317	0.95[ASN][1000 genomes]
rs13268897	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13282566	0.98[ASN][1000 genomes]
rs1427181	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1427190	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1593666	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs16881787	0.95[ASN][1000 genomes]
rs16881844	0.86[ASN][1000 genomes]
rs2433663	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2433665	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2512404	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3021375	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4419838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4455867	0.89[ASN][1000 genomes]
rs4620315	0.91[ASN][1000 genomes]
rs6469345	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6985509	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7835727	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7843740	0.98[ASN][1000 genomes]
rs890564	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs890565	0.84[EUR][1000 genomes];0.89[ASN][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	nsv1030494	chr8:111779352-112421812	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv891302	chr8:111987798-112238390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv891306	chr8:112021630-112238390	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv891310	chr8:112079211-112238390	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv891311	chr8:112088322-112604086	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv891312	chr8:112111911-112238390	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1034184	chr8:112171949-112274721	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112200000-112201000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:112200600-112201200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr8:112200600-112201400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:112200600-112201600	Enhancers	NH-A	brain
5	chr8:112200600-112201800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:112200600-112202000	Enhancers	HMEC	breast
7	chr8:112200600-112202000	Enhancers	HSMMtube	muscle
8	chr8:112200600-112202200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:112200800-112201800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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