Variant report

Variant	rs10773980
Chromosome Location	chr12:1798718-1798719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:1769488..1776078-chr12:1798561..1806450,20	K562	blood:
2	chr12:1769387..1773191-chr12:1797591..1801415,7	K562	blood:
3	chr12:1797794..1800188-chr12:1882818..1885035,2	MCF-7	breast:
4	chr12:1798163..1800510-chr12:1865299..1867613,2	K562	blood:
5	chr12:1768367..1774746-chr12:1797764..1801789,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266043	Chromatin interaction
ENSG00000243663	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1044471	0.83[ASN][1000 genomes]
rs10735003	0.84[ASN][1000 genomes]
rs10744551	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10773988	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10773991	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10848548	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10848550	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10848557	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10848561	0.84[ASN][1000 genomes]
rs10848563	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10848565	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10848567	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10848571	0.88[ASN][1000 genomes]
rs11061971	0.88[ASN][1000 genomes]
rs12316367	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2068491	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2108642	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2190556	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2286383	0.84[ASN][1000 genomes]
rs2286384	0.84[ASN][1000 genomes]
rs3759374	0.88[ASN][1000 genomes]
rs4140992	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4765843	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4765844	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4766415	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6489326	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7138924	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7294668	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7296521	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7315046	0.85[EUR][1000 genomes]
rs7316218	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7955261	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7962394	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7974422	0.88[ASN][1000 genomes]
rs7974924	0.88[ASN][1000 genomes]
rs7976827	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7978362	0.85[ASN][1000 genomes]
rs7978783	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9300298	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9739162	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9805049	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv832304	chr12:1710249-1868642	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv832305	chr12:1769852-1936054	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 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	chr12:1796600-1799400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:1797200-1799000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:1797400-1799600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:1797600-1798800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:1797800-1799200	Weak transcription	NHDF-Ad	bronchial
6	chr12:1798200-1799000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:1798200-1799200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr12:1798600-1799000	Enhancers	Dnd41	blood

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