Variant report

Variant	rs1990085
Chromosome Location	chr7:124051632-124051633
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10954025	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11762885	0.86[ASN][1000 genomes]
rs12668370	0.86[ASN][1000 genomes]
rs12673329	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12674188	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2214779	0.86[ASN][1000 genomes]
rs2402710	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2402714	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2402716	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2402717	0.85[EUR][1000 genomes]
rs4270879	0.85[EUR][1000 genomes]
rs4294130	0.84[EUR][1000 genomes]
rs4422719	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4428613	0.84[EUR][1000 genomes]
rs4595049	0.84[EUR][1000 genomes]
rs4609140	0.84[EUR][1000 genomes]
rs55733405	0.86[ASN][1000 genomes]
rs56131141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61503400	0.88[ASN][1000 genomes]
rs6466913	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6466914	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67981025	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6948614	0.86[ASN][1000 genomes]
rs6957929	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6974521	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73216955	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs737947	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7780788	0.85[EUR][1000 genomes]
rs7783449	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7795613	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7798034	0.85[EUR][1000 genomes]
rs7806613	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs972172	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608338	chr7:123787673-124063498	Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1795113	chr7:123885477-124188665	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
4	nsv831117	chr7:123957376-124089186	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1808414	chr7:123957376-124188665	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv889133	chr7:124018435-124094443	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124050800-124054000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:124051000-124051800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:124051000-124052600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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