Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10747547	0.85[ASN][1000 genomes]
rs10875827	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10875829	0.83[EUR][1000 genomes]
rs11168577	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11168586	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11168599	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11168618	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11168619	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11458	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12371700	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12372687	0.84[AMR][1000 genomes]
rs2956467	0.81[ASN][1000 genomes]
rs4359253	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56354789	0.81[AMR][1000 genomes]
rs57444623	0.87[ASN][1000 genomes]
rs6580671	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7294341	0.85[ASN][1000 genomes]
rs7302209	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7310960	0.81[ASN][1000 genomes]
rs7314569	0.83[AMR][1000 genomes]
rs7955785	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7972785	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7974213	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48833800-48840400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:48834200-48840400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:48834200-48840400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:48836400-48839600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:48836600-48839600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:48836600-48839600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:48836800-48839800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:48837800-48839600	Weak transcription	Hela-S3	cervix
9	chr12:48839200-48840200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:48839200-48840400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:48839200-48840400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr12:48839400-48839800	Enhancers	HUVEC	blood vessel
13	chr12:48839400-48840000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:48839400-48840200	Enhancers	Primary T cells from cord blood	blood
15	chr12:48839400-48840200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:48839400-48840400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:48839400-48840400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:48839400-48840400	Enhancers	Primary T helper cells fromperipheralblood	blood

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