Variant report

Variant	rs2219718
Chromosome Location	chr12:86081153-86081154
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10506924	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10779180	0.84[AFR][1000 genomes]
rs10779181	0.83[AFR][1000 genomes]
rs10779182	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10779188	0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10779190	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10779191	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10779192	0.83[EUR][1000 genomes]
rs10863032	0.81[ASN][1000 genomes]
rs10863056	0.99[ASN][1000 genomes]
rs10863057	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11116965	0.93[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11116966	0.84[ASN][1000 genomes]
rs11116967	0.84[ASN][1000 genomes]
rs11116968	0.93[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11116969	0.84[ASN][1000 genomes]
rs11835161	0.85[AFR][1000 genomes]
rs2199508	0.85[AFR][1000 genomes]
rs2199511	0.84[AFR][1000 genomes]
rs2405254	0.84[AFR][1000 genomes]
rs2405256	0.85[AFR][1000 genomes]
rs2405257	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2897094	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34929726	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4897817	0.84[AFR][1000 genomes]
rs4897822	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4897825	0.84[AFR][1000 genomes]
rs4897837	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4897838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4897842	0.83[ASN][1000 genomes]
rs4897843	0.84[ASN][1000 genomes]
rs6539902	0.84[AFR][1000 genomes]
rs7133064	0.84[AFR][1000 genomes]
rs7295445	0.82[AFR][1000 genomes]
rs7302561	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7304475	0.87[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7486973	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7955601	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7959638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7966898	0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs7973153	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2751125	chr12:85884858-86098240	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1043253	chr12:85888151-86125364	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1054475	chr12:85985510-86175711	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv541561	chr12:85985510-86175711	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86075800-86081600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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