Variant report

Variant	rs2302185
Chromosome Location	chr19:38858432-38858433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38825781..38827790-chr19:38857825..38859729,2	K562	blood:
2	chr19:38856161..38860758-chr19:38862058..38866841,9	MCF-7	breast:
3	chr19:38852371..38854789-chr19:38855847..38858452,2	MCF-7	breast:
4	chr19:38826107..38827790-chr19:38858229..38860681,2	K562	blood:
5	chr19:38847354..38850144-chr19:38856226..38859199,2	K562	blood:

Variant related genes	Relation type
ENSG00000266963	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000099341	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10153497	1.00[AMR][1000 genomes]
rs1060454	0.84[ASN][1000 genomes]
rs11880285	1.00[AMR][1000 genomes]
rs11881714	1.00[AMR][1000 genomes]
rs2270092	0.84[ASN][1000 genomes]
rs2286548	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2302187	0.91[ASN][1000 genomes]
rs3745953	0.84[ASN][1000 genomes]
rs45589333	1.00[AMR][1000 genomes]
rs57249964	1.00[AMR][1000 genomes]
rs57347571	1.00[AMR][1000 genomes]
rs57361474	1.00[AMR][1000 genomes]
rs58247981	1.00[AMR][1000 genomes]
rs58490212	1.00[AMR][1000 genomes]
rs58591078	1.00[AMR][1000 genomes]
rs59047386	1.00[AMR][1000 genomes]
rs59776537	1.00[AMR][1000 genomes]
rs59845491	1.00[AMR][1000 genomes]
rs60068553	1.00[AMR][1000 genomes]
rs60491875	1.00[AMR][1000 genomes]
rs61648033	1.00[AMR][1000 genomes]
rs73043012	0.84[ASN][1000 genomes]
rs73043013	0.84[ASN][1000 genomes]
rs73043014	0.84[ASN][1000 genomes]
rs73043015	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS 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	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38853800-38864400	Weak transcription	A549	lung
2	chr19:38857600-38858600	Flanking Active TSS	HepG2	liver
3	chr19:38857800-38859200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:38858200-38859000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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