Variant report

Variant	rs7187129
Chromosome Location	chr16:71861444-71861445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71860668..71862342-chr16:71866739..71868504,2	K562	blood:
2	chr16:71841850..71845903-chr16:71861394..71864478,5	MCF-7	breast:
3	chr16:71860191..71863148-chr16:71917071..71918896,2	K562	blood:
4	chr16:71861107..71863637-chr16:71865343..71867600,2	K562	blood:
5	chr16:71841774..71844695-chr16:71859330..71862021,2	MCF-7	breast:
6	chr16:71838848..71841056-chr16:71860564..71862352,2	K562	blood:
7	chr16:71843627..71847221-chr16:71857601..71861562,3	K562	blood:

Variant related genes	Relation type
ENSG00000262140	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000102984	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11075908	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11075911	0.81[EUR][1000 genomes]
rs11648353	0.81[EUR][1000 genomes]
rs11648530	0.81[EUR][1000 genomes]
rs11649672	0.87[EUR][1000 genomes]
rs12102548	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12444829	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12447045	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12449139	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12599192	0.84[EUR][1000 genomes]
rs12921084	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12926041	0.84[EUR][1000 genomes]
rs12926300	0.84[EUR][1000 genomes]
rs12930744	0.81[EUR][1000 genomes]
rs12935795	0.80[EUR][1000 genomes]
rs13329779	0.90[EUR][1000 genomes]
rs1834034	0.89[EUR][1000 genomes]
rs1834035	0.87[EUR][1000 genomes]
rs1981874	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2018384	0.87[EUR][1000 genomes]
rs2288029	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2288031	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2335709	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2335710	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2335711	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2335712	0.93[EUR][1000 genomes]
rs2335713	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2335714	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2335715	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28697038	0.86[EUR][1000 genomes]
rs2878492	0.81[EUR][1000 genomes]
rs3794692	0.88[EUR][1000 genomes]
rs4788446	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4788447	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788449	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788562	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4788563	0.88[EUR][1000 genomes]
rs4788564	0.92[EUR][1000 genomes]
rs4788566	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788570	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788571	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4788573	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4788576	0.89[EUR][1000 genomes]
rs4788581	0.87[EUR][1000 genomes]
rs4788582	0.82[EUR][1000 genomes]
rs4788584	0.81[EUR][1000 genomes]
rs4788585	0.81[EUR][1000 genomes]
rs62053803	0.81[EUR][1000 genomes]
rs62056490	0.92[ASN][1000 genomes]
rs6499542	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499545	0.92[EUR][1000 genomes]
rs6499551	0.89[EUR][1000 genomes]
rs6499552	0.90[EUR][1000 genomes]
rs7184437	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7184486	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7193731	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7204708	0.81[EUR][1000 genomes]
rs7205154	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8044342	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8046859	0.92[EUR][1000 genomes]
rs8050488	0.87[EUR][1000 genomes]
rs8050651	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8051038	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8057124	0.88[EUR][1000 genomes]
rs8058118	0.88[EUR][1000 genomes]
rs8059053	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs8062946	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8063324	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8063403	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9302631	0.90[EUR][1000 genomes]
rs9302632	0.89[EUR][1000 genomes]
rs9806882	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9888748	0.80[EUR][1000 genomes]
rs9889011	0.80[EUR][1000 genomes]
rs9921412	0.81[EUR][1000 genomes]
rs9924339	0.82[EUR][1000 genomes]
rs9932922	0.85[EUR][1000 genomes]
rs9934803	0.83[EUR][1000 genomes]
rs9934812	0.83[EUR][1000 genomes]
rs9937936	0.90[EUR][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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71843800-71861600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr16:71844200-71862200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr16:71844800-71862000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr16:71851200-71862200	Weak transcription	Fetal Stomach	stomach
5	chr16:71851200-71866400	Weak transcription	HSMMtube	muscle
6	chr16:71852200-71861600	Weak transcription	Esophagus	oesophagus
7	chr16:71852200-71861800	Weak transcription	Fetal Muscle Leg	muscle
8	chr16:71852200-71861800	Weak transcription	HSMM	muscle
9	chr16:71852200-71866000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr16:71852400-71863000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:71852800-71864000	Weak transcription	Osteobl	bone
12	chr16:71858000-71863400	Weak transcription	Primary T cells from cord blood	blood
13	chr16:71860800-71863800	Weak transcription	GM12878-XiMat	blood
14	chr16:71861400-71861600	Enhancers	Psoas Muscle	Psoas

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