Variant report

Variant	rs72713019
Chromosome Location	chr8:125458333-125458334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125456155..125458646-chr8:125470244..125472262,2	K562	blood:
2	chr8:125457794..125459767-chr8:125524535..125526756,2	K562	blood:
3	chr8:125458285..125469406-chr8:125482519..125490004,41	MCF-7	breast:

Variant related genes	Relation type
ENSG00000245149	Chromatin interaction
ENSG00000170881	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10195	0.81[EUR][1000 genomes]
rs10956186	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16899643	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16899656	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16899660	0.92[EUR][1000 genomes]
rs17298171	0.81[EUR][1000 genomes]
rs3812470	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3812473	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3829033	0.81[EUR][1000 genomes]
rs4330675	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4527852	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4613980	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4621790	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57929284	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6981043	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6989097	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6997089	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713023	0.83[EUR][1000 genomes]
rs72713032	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713042	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713045	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713053	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713055	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713059	0.81[EUR][1000 genomes]
rs72713071	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72713073	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713075	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713077	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72713084	0.90[EUR][1000 genomes]
rs72713096	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72713098	0.90[EUR][1000 genomes]
rs72714708	0.81[EUR][1000 genomes]
rs73704274	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9643197	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv891430	chr8:125431030-125485027	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1017848	chr8:125432689-125489052	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv891431	chr8:125437811-125485027	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv891432	chr8:125438093-125485027	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 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	chr8:125450800-125462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125453200-125461800	Weak transcription	HMEC	breast
3	chr8:125453400-125459200	Weak transcription	K562	blood
4	chr8:125453400-125459600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:125455400-125459400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:125455600-125459000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:125456200-125462200	Weak transcription	Psoas Muscle	Psoas
8	chr8:125456400-125459200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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