Variant report

Variant	rs56225520
Chromosome Location	chr8:125350108-125350109
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125342566..125344974-chr8:125348992..125350712,2	K562	blood:
2	chr8:125348366..125351032-chr8:125353467..125355350,2	K562	blood:
3	chr8:125349010..125350825-chr8:125354672..125357110,2	MCF-7	breast:
4	chr8:125349812..125351623-chr8:125383441..125385369,2	MCF-7	breast:
5	chr8:125338106..125341622-chr8:125346657..125350721,4	MCF-7	breast:
6	chr8:125348366..125351032-chr8:125352603..125355350,3	K562	blood:

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10090489	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10091430	0.97[ASN][1000 genomes]
rs10093809	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10093812	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10096657	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105192	0.91[ASN][1000 genomes]
rs10111787	0.97[ASN][1000 genomes]
rs10956175	0.91[ASN][1000 genomes]
rs11997689	0.88[ASN][1000 genomes]
rs12680422	0.97[ASN][1000 genomes]
rs12680423	0.97[ASN][1000 genomes]
rs16899562	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899577	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297352	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17369737	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17369758	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28456315	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460280	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28536158	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28538795	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28562339	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594441	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28657471	0.93[AFR][1000 genomes]
rs28694575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716042	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28721926	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28827823	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128778	0.97[ASN][1000 genomes]
rs4128779	0.97[ASN][1000 genomes]
rs4257989	0.97[ASN][1000 genomes]
rs4355753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4364615	0.87[ASN][1000 genomes]
rs4366066	0.97[ASN][1000 genomes]
rs4368958	0.97[ASN][1000 genomes]
rs4376483	0.97[ASN][1000 genomes]
rs4394374	0.91[ASN][1000 genomes]
rs4406374	0.92[ASN][1000 genomes]
rs4503079	0.97[ASN][1000 genomes]
rs4617135	0.91[ASN][1000 genomes]
rs55679493	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55931807	0.91[ASN][1000 genomes]
rs56036293	0.91[ASN][1000 genomes]
rs56142132	0.91[ASN][1000 genomes]
rs56166945	0.97[ASN][1000 genomes]
rs56202566	0.91[ASN][1000 genomes]
rs56342262	0.80[ASN][1000 genomes]
rs56893629	0.97[ASN][1000 genomes]
rs58908685	0.97[ASN][1000 genomes]
rs67086747	0.94[AFR][1000 genomes]
rs6984676	0.86[ASN][1000 genomes]
rs6984691	0.86[ASN][1000 genomes]
rs7005950	0.97[ASN][1000 genomes]
rs7015493	0.97[ASN][1000 genomes]
rs73332159	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73332190	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73332191	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73333910	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333911	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333937	0.97[ASN][1000 genomes]
rs73333948	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73333990	0.91[ASN][1000 genomes]
rs73333993	0.91[ASN][1000 genomes]
rs73333994	0.91[ASN][1000 genomes]
rs73336155	0.91[ASN][1000 genomes]
rs73336165	0.91[ASN][1000 genomes]
rs73336173	0.91[ASN][1000 genomes]
rs73336179	0.91[ASN][1000 genomes]
rs73336181	0.91[ASN][1000 genomes]
rs73336185	0.91[ASN][1000 genomes]
rs73336195	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336202	0.91[ASN][1000 genomes]
rs73337903	0.91[ASN][1000 genomes]
rs73337904	0.91[ASN][1000 genomes]
rs7386980	0.97[ASN][1000 genomes]
rs7387197	0.82[ASN][1000 genomes]
rs7388185	0.97[ASN][1000 genomes]
rs7819589	0.91[ASN][1000 genomes]
rs7833150	0.85[EUR][1000 genomes]
rs7835963	0.91[ASN][1000 genomes]
rs7836478	0.91[ASN][1000 genomes]
rs9886564	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125332000-125352800	Weak transcription	Fetal Lung	lung
2	chr8:125332400-125351000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:125334200-125364000	Weak transcription	HUVEC	blood vessel
4	chr8:125346200-125350600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:125346400-125354000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:125346400-125361000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:125346400-125368200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:125346600-125352600	Weak transcription	Fetal Heart	heart
9	chr8:125347200-125356400	Weak transcription	HSMMtube	muscle
10	chr8:125349800-125350800	Weak transcription	A549	lung
11	chr8:125350000-125351600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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