Variant report

Variant	rs2004422
Chromosome Location	chr13:53774627-53774628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12860317	0.87[ASN][1000 genomes]
rs1322937	0.81[ASN][1000 genomes]
rs1322948	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322953	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1322954	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1322959	0.81[ASN][1000 genomes]
rs1322960	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13353100	0.87[ASN][1000 genomes]
rs1343603	0.85[EUR][1000 genomes]
rs1407688	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1407689	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1885767	0.86[EUR][1000 genomes]
rs1909650	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1923770	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1923772	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1951724	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1951725	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2038647	0.84[EUR][1000 genomes]
rs2038648	0.84[ASN][1000 genomes]
rs2759674	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2759713	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2759714	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2806937	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2806940	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2806947	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2806965	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2806968	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2806985	0.83[EUR][1000 genomes]
rs2806994	0.87[EUR][1000 genomes]
rs4886312	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5008125	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71430868	0.87[ASN][1000 genomes]
rs9536375	0.87[ASN][1000 genomes]
rs9536379	0.81[ASN][1000 genomes]
rs9596771	0.87[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	nsv1050969	chr13:53665927-54064861	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3427175	chr13:53773776-53776324	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
3	esv3386985	chr13:53774176-53776724	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv3370262	chr13:53774568-53774893	Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	inside rSNPs	n/a
5	esv16748	chr13:53774609-53776399	Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a
6	esv1819513	chr13:53774627-53776265	Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv1835841	chr13:53774627-53776265	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv1834091	chr13:53774627-53784083	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a
9	esv1838050	chr13:53774627-53784083	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a
10	esv1835986	chr13:53774627-53786026	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a
11	esv1840677	chr13:53774627-53791895	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53773400-53775400	Weak transcription	Brain Anterior Caudate	brain
2	chr13:53773800-53774800	Bivalent Enhancer	Fetal Brain Female	brain
3	chr13:53774000-53774800	Bivalent Enhancer	Brain Germinal Matrix	brain
4	chr13:53774200-53776200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr13:53774200-53776200	ZNF genes & repeats	Spleen	Spleen
6	chr13:53774200-53776600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:53774400-53775200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr13:53774400-53776600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:53774400-53776600	Enhancers	Pancreas	Pancrea
10	chr13:53774600-53774800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr13:53774600-53774800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr13:53774600-53775200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:53774600-53775400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:53774600-53776000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr13:53774600-53776000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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