Variant report

Variant	rs12654352
Chromosome Location	chr5:120632929-120632930
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:120628569..120631260-chr5:120631938..120634860,2	MCF-7	breast:
2	chr5:120631738..120633506-chr5:120633517..120635841,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11960193	0.97[ASN][1000 genomes]
rs12658893	0.99[ASN][1000 genomes]
rs13162465	0.94[ASN][1000 genomes]
rs13186166	0.94[ASN][1000 genomes]
rs2194082	0.81[ASN][1000 genomes]
rs2216616	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34142850	0.86[ASN][1000 genomes]
rs34415831	0.98[ASN][1000 genomes]
rs34693873	0.94[ASN][1000 genomes]
rs3866711	0.97[ASN][1000 genomes]
rs3909309	0.97[ASN][1000 genomes]
rs3909355	0.90[ASN][1000 genomes]
rs4409129	0.94[ASN][1000 genomes]
rs4895176	0.88[ASN][1000 genomes]
rs4895177	0.96[ASN][1000 genomes]
rs4997068	0.94[ASN][1000 genomes]
rs58413464	0.97[ASN][1000 genomes]
rs62379943	0.98[ASN][1000 genomes]
rs62379950	0.92[ASN][1000 genomes]
rs62379951	0.91[ASN][1000 genomes]
rs62379959	0.87[ASN][1000 genomes]
rs6879181	0.98[ASN][1000 genomes]
rs6879185	0.98[ASN][1000 genomes]
rs6885327	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7717265	0.94[ASN][1000 genomes]
rs888874	0.94[ASN][1000 genomes]
rs966089	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599606	chr5:120219340-120776767	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv3402839	chr5:120286561-120667036	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv882797	chr5:120359319-120757262	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv33642	chr5:120380525-120848760	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2754268	chr5:120398198-120745053	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv830468	chr5:120464697-120649067	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv882799	chr5:120565523-120649241	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1022981	chr5:120583543-120691755	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2763911	chr5:120583555-120706241	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv518883	chr5:120591425-120708748	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv599617	chr5:120608476-120670292	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1018526	chr5:120610202-120649241	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv882800	chr5:120622200-120653398	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv882801	chr5:120622200-120656658	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv882802	chr5:120622200-120670292	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv969194	chr5:120622423-120633248	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120631600-120634800	Enhancers	Dnd41	blood
2	chr5:120632000-120633000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr5:120632400-120633000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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