Variant report

Variant	rs60153985
Chromosome Location	chr3:21795098-21795099
allele	C/T
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	RAD21	chr3:21791389-21796924	SK-N-SH	brain:	n/a	chr3:21794444-21794456
2	MXI1	chr3:21791097-21795137	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:21794398..21795153-chr3:22159350..22159975,2	MCF-7	breast:

Variant related genes	Relation type
ZNF385D	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13093500	0.82[ASN][1000 genomes]
rs17009582	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17563952	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs17621887	0.80[EUR][1000 genomes]
rs17621934	1.00[AFR][1000 genomes]
rs17635545	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2335428	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4327413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4334661	0.80[ASN][1000 genomes]
rs4355302	0.80[ASN][1000 genomes]
rs4464480	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4532155	0.80[ASN][1000 genomes]
rs4538394	0.80[ASN][1000 genomes]
rs4629355	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4858015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858020	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs59687360	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71618873	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73820142	0.80[EUR][1000 genomes]
rs7616119	0.80[ASN][1000 genomes]
rs7618602	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7643485	0.82[EUR][1000 genomes]
rs7652766	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653345	0.80[ASN][1000 genomes]
rs9819548	0.82[ASN][1000 genomes]
rs9824595	0.80[ASN][1000 genomes]
rs9825051	0.80[ASN][1000 genomes]
rs9838432	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1007665	chr3:21781727-21809266	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1011725	chr3:21786893-21804428	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2751992	chr3:21786893-22212357	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv948555	chr3:21786893-22212357	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1015075	chr3:21791806-21809266	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv15440	chr3:21793027-21795819	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
11	nsv876613	chr3:21794174-21825247	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21793200-21795600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:21793200-21795800	Weak transcription	HSMMtube	muscle
3	chr3:21793400-21795800	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:21793400-21801600	Weak transcription	Fetal Lung	lung
5	chr3:21794600-21795400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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