Variant report

Variant	rs60740701
Chromosome Location	chr16:71875515-71875516
allele	A/G
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	ZNF384	chr16:71875450-71875551	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:71840441..71845295-chr16:71875076..71881716,14	K562	blood:
2	chr16:71873329..71875827-chr16:71878318..71880642,2	MCF-7	breast:
3	chr16:71874199..71877038-chr16:71877989..71879854,2	MCF-7	breast:

Variant related genes	Relation type
IST1	TF binding region
ATXN1L	TF binding region
ENSG00000224470	Chromatin interaction
ENSG00000182149	Chromatin interaction
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1035543	0.85[EUR][1000 genomes]
rs12597418	0.82[EUR][1000 genomes]
rs12600153	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12600163	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12930206	0.85[AFR][1000 genomes]
rs13332113	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13332180	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13337118	0.89[EUR][1000 genomes]
rs1834033	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2291947	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34111614	0.94[EUR][1000 genomes]
rs4538017	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4788448	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4788554	0.85[AFR][1000 genomes]
rs4788567	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4788572	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4788574	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4788578	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55702379	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56309616	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60075093	0.88[EUR][1000 genomes]
rs7350856	0.94[EUR][1000 genomes]
rs8062441	0.85[AFR][1000 genomes]
rs952159	0.90[EUR][1000 genomes]
rs952160	0.90[EUR][1000 genomes]
rs9889100	0.83[EUR][1000 genomes]
rs9925441	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9925684	0.91[EUR][1000 genomes]
rs9936965	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9937626	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71868600-71876400	Weak transcription	Fetal Kidney	kidney
2	chr16:71870800-71879000	Weak transcription	NHEK	skin
3	chr16:71871400-71876200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:71871400-71879000	Weak transcription	HMEC	breast
5	chr16:71871600-71879200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr16:71871800-71876200	Weak transcription	K562	blood
7	chr16:71874200-71875800	Weak transcription	Placenta	Placenta
8	chr16:71874600-71876200	Weak transcription	HepG2	liver
9	chr16:71874600-71879000	Weak transcription	Hela-S3	cervix
10	chr16:71874800-71878800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr16:71875400-71876200	Enhancers	GM12878-XiMat	blood
12	chr16:71875400-71876800	Enhancers	Primary B cells from cord blood	blood
13	chr16:71875400-71879000	Enhancers	Primary B cells from peripheral blood	blood

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