Variant report

Variant	rs12047266
Chromosome Location	chr1:72470514-72470515
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10493488	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10493491	0.95[ASN][1000 genomes]
rs10889940	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11209871	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11209878	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11209888	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs1155261	0.86[ASN][1000 genomes]
rs12023418	0.92[ASN][1000 genomes]
rs12024501	0.91[ASN][1000 genomes]
rs12033580	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12035363	0.95[ASN][1000 genomes]
rs12035495	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12040021	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12042679	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12043636	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17091997	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17092217	0.92[ASN][1000 genomes]
rs1834526	0.84[EUR][1000 genomes]
rs2162238	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56134836	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs59416074	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61767482	0.92[ASN][1000 genomes]
rs61767491	0.91[ASN][1000 genomes]
rs6659791	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6667732	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6667747	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6696193	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6698069	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7520086	0.84[EUR][1000 genomes]
rs7528016	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7553008	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8179360	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9787171	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948821	chr1:72049987-72477221	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv817447	chr1:72098815-72558020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv916783	chr1:72196061-72707953	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1007910	chr1:72247302-72543998	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv999162	chr1:72319163-72477496	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv534995	chr1:72319163-72477496	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv428763	chr1:72353556-72499701	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1007073	chr1:72419858-72734657	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1354	chr1:72431164-72475522	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv546478	chr1:72442018-72512391	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72466800-72471800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:72466800-72472000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:72467200-72471600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:72469000-72471800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:72469200-72470600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:72469200-72471600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:72469200-72471800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:72469200-72472000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:72469200-72472200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:72469200-72472400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:72469200-72472400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr1:72469400-72471800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:72469400-72472000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:72469400-72475400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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