Variant report

Variant	rs13005612
Chromosome Location	chr2:151789125-151789126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12692891	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12986591	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12992982	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12994178	0.84[AFR][1000 genomes]
rs12995446	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12996797	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13003276	0.82[EUR][1000 genomes]
rs13006345	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13010850	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13016055	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13016337	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13016725	0.83[EUR][1000 genomes]
rs13018464	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13022926	0.83[EUR][1000 genomes]
rs13023089	0.83[EUR][1000 genomes]
rs13028601	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13028980	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13030344	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13030392	0.84[AMR][1000 genomes]
rs13031138	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13031323	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13034876	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13035974	0.89[EUR][1000 genomes]
rs1385429	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2108198	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2108199	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2341927	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2341929	0.82[EUR][1000 genomes]
rs2341930	0.82[EUR][1000 genomes]
rs34018967	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34113888	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34372555	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34398830	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34462888	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35967096	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4664214	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66739021	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67547706	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs990127	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757836	chr2:151457277-151844210	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2759096	chr2:151457277-151844210	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv998945	chr2:151711411-151833317	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv2754005	chr2:151753492-151840492	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3459833	chr2:151785086-151789367	Enhancers Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
9	esv3459834	chr2:151785201-151789240	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
10	nsv498940	chr2:151785214-151789238	Enhancers Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
11	esv3459835	chr2:151785215-151789238	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	n/a
12	nsv821753	chr2:151785216-151789182	Enhancers Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	inside rSNPs	n/a
13	nsv821755	chr2:151785216-151789245	Active TSS Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
14	nsv514097	chr2:151785418-151789162	Weak transcription Enhancers Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151771200-151806800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:151787800-151789200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr2:151788000-151789200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:151788200-151789200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:151788200-151789200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr2:151788200-151789400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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