Variant report

Variant	rs12681895
Chromosome Location	chr8:49112156-49112157
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:49112020-49112170	HCPEpiC	choroid plexus:	n/a	n/a
2	MAX	chr8:49111930-49112275	H1-hESC	embryonic stem cell:	n/a	chr8:49111985-49111994
3	ZNF143	chr8:49111950-49112174	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr8:49111940-49112292	H1-hESC	embryonic stem cell:	n/a	n/a
5	E2F6	chr8:49111858-49112399	H1-hESC	embryonic stem cell:	n/a	chr8:49111934-49111945 chr8:49111931-49111948 chr8:49111933-49111942 chr8:49111933-49111944 chr8:49111934-49111945 chr8:49111934-49111945 chr8:49111933-49111943 chr8:49111931-49111948 chr8:49111931-49111948 chr8:49111934-49111941 chr8:49111934-49111945 chr8:49111934-49111945
6	MAX	chr8:49111987-49112318	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000253843	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10086138	0.82[ASN][1000 genomes]
rs10106082	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10453133	0.81[ASN][1000 genomes]
rs10957003	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10958492	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10958493	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10958494	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11777096	0.82[AMR][1000 genomes]
rs11779663	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11781426	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11783152	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11783466	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11786285	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12155524	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12155855	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12550843	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12679335	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12682398	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs13252104	0.80[ASN][1000 genomes]
rs35157243	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35975383	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3934733	0.81[ASN][1000 genomes]
rs3934735	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3935535	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4072343	0.81[ASN][1000 genomes]
rs4242486	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4286973	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4291295	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4329299	0.80[ASN][1000 genomes]
rs4357320	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4375031	0.81[ASN][1000 genomes]
rs4392930	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4480143	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4526384	0.80[ASN][1000 genomes]
rs4873081	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4873788	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7838270	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7844929	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9650185	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9657169	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1841988	chr8:49093467-49156411	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr8:49104200-49115400	Weak transcription	Adipose Nuclei	Adipose
2	chr8:49110000-49114000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:49110400-49113200	Enhancers	Ovary	ovary
4	chr8:49110600-49115000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:49110800-49113000	Enhancers	Fetal Stomach	stomach
6	chr8:49111000-49112200	Enhancers	Fetal Muscle Trunk	muscle
7	chr8:49111000-49112200	Enhancers	Fetal Muscle Leg	muscle
8	chr8:49111000-49112400	Enhancers	Fetal Lung	lung
9	chr8:49111200-49112800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:49111400-49112800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:49111800-49112200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:49111800-49112200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:49111800-49112400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr8:49111800-49113000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:49112000-49112200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:49112000-49114000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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