Variant report

Variant	rs4380232
Chromosome Location	chr2:151490718-151490719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10188741	0.98[ASN][1000 genomes]
rs10432416	0.98[ASN][1000 genomes]
rs10497064	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497067	0.98[ASN][1000 genomes]
rs10497068	0.98[ASN][1000 genomes]
rs10497069	1.00[EUR][1000 genomes]
rs10803803	0.82[ASN][1000 genomes]
rs10930198	0.90[ASN][1000 genomes]
rs10930203	0.98[ASN][1000 genomes]
rs11894862	0.98[ASN][1000 genomes]
rs11899711	0.98[ASN][1000 genomes]
rs12473120	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12614085	0.98[ASN][1000 genomes]
rs13019271	0.98[ASN][1000 genomes]
rs2247416	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290815	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290816	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2290817	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2341059	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2341060	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341061	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341062	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341063	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341064	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341065	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341066	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341067	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2341068	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341071	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341072	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2341073	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2341074	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341075	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2341078	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341082	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341083	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341084	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341086	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341087	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341088	0.98[ASN][1000 genomes]
rs2341089	0.98[ASN][1000 genomes]
rs2341090	0.98[ASN][1000 genomes]
rs2341091	0.98[ASN][1000 genomes]
rs2879931	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233665	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233666	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233667	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4297879	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4334493	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4365460	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4408725	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514872	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4530365	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4530366	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4600650	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627564	0.97[EUR][1000 genomes]
rs4664150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664689	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4664692	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710003	0.98[ASN][1000 genomes]
rs6724645	0.93[EUR][1000 genomes]
rs71338158	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7557930	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559963	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7560326	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7562436	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569499	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593427	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597424	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602198	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9287861	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9287862	0.98[ASN][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	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv834415	chr2:151374254-151558649	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151487400-151494400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:151488000-151495600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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