Variant report

Variant	rs7978148
Chromosome Location	chr12:30221023-30221024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1040272	0.94[ASN][1000 genomes]
rs1040273	0.94[ASN][1000 genomes]
rs10743690	0.94[ASN][1000 genomes]
rs10771621	0.89[ASN][1000 genomes]
rs10771622	0.97[ASN][1000 genomes]
rs10771628	0.94[ASN][1000 genomes]
rs10843593	0.88[ASN][1000 genomes]
rs11050623	0.84[ASN][1000 genomes]
rs11050627	0.99[ASN][1000 genomes]
rs11050628	0.85[ASN][1000 genomes]
rs11050629	1.00[ASN][1000 genomes]
rs11050631	1.00[ASN][1000 genomes]
rs11050632	1.00[ASN][1000 genomes]
rs11050635	0.83[ASN][1000 genomes]
rs11050636	0.83[ASN][1000 genomes]
rs11050637	0.94[ASN][1000 genomes]
rs11561211	1.00[ASN][1000 genomes]
rs12229030	1.00[ASN][1000 genomes]
rs1319488	0.83[ASN][1000 genomes]
rs1554430	0.94[ASN][1000 genomes]
rs1554431	0.94[ASN][1000 genomes]
rs1554432	0.94[ASN][1000 genomes]
rs16935329	1.00[ASN][1000 genomes]
rs1874800	0.94[ASN][1000 genomes]
rs1909177	0.94[ASN][1000 genomes]
rs1909178	0.94[ASN][1000 genomes]
rs1909179	0.94[ASN][1000 genomes]
rs1909180	0.94[ASN][1000 genomes]
rs2176915	0.94[ASN][1000 genomes]
rs4930878	1.00[ASN][1000 genomes]
rs4930880	0.99[ASN][1000 genomes]
rs57419668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73084800	0.83[AFR][1000 genomes]
rs73084801	0.82[AFR][1000 genomes]
rs73086160	0.88[AFR][1000 genomes]
rs73086173	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73086177	0.88[AFR][1000 genomes]
rs7309632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7312767	0.88[AFR][1000 genomes]
rs7312864	0.88[AFR][1000 genomes]
rs7958643	0.94[ASN][1000 genomes]
rs7959104	0.94[ASN][1000 genomes]
rs7959152	0.94[ASN][1000 genomes]
rs7960111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960333	0.88[AFR][1000 genomes]
rs7962142	0.97[ASN][1000 genomes]
rs7964334	0.94[ASN][1000 genomes]
rs7968310	0.97[ASN][1000 genomes]
rs7976943	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30219200-30221200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr12:30219800-30221200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:30220600-30221200	Active TSS	Fetal Heart	heart
4	chr12:30220600-30221800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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