Variant report

Variant	rs2194558
Chromosome Location	chr2:21843315-21843316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10200683	1.00[ASN][1000 genomes]
rs13405168	0.92[ASN][1000 genomes]
rs13416424	0.92[ASN][1000 genomes]
rs13422674	0.85[ASN][1000 genomes]
rs13427297	0.92[ASN][1000 genomes]
rs1476119	0.89[EUR][1000 genomes]
rs1991127	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1991128	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2005912	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2194557	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2194559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2194571	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2338369	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28361438	1.00[ASN][1000 genomes]
rs4665994	1.00[EUR][1000 genomes]
rs56149559	0.92[ASN][1000 genomes]
rs59932004	0.92[ASN][1000 genomes]
rs6547698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6547699	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6547710	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6729222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745563	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs728109	0.92[ASN][1000 genomes]
rs72892288	0.92[ASN][1000 genomes]
rs72892296	0.92[ASN][1000 genomes]
rs72894021	1.00[ASN][1000 genomes]
rs72894032	1.00[ASN][1000 genomes]
rs72894034	1.00[ASN][1000 genomes]
rs72898211	0.82[AFR][1000 genomes]
rs7563186	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs889961	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs889962	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011486	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535602	chr2:21475803-22364002	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3406784	chr2:21805088-22160765	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1003122	chr2:21822998-21852600	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
5	nsv1011732	chr2:21822998-21857207	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21841200-21844600	Weak transcription	Ovary	ovary
2	chr2:21842800-21844200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:21843000-21844800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:21843200-21843800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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