Variant report

Variant	rs7298141
Chromosome Location	chr12:30220099-30220100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10771624	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771631	0.88[AMR][1000 genomes]
rs10843594	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10843595	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10843596	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11830314	1.00[ASN][1000 genomes]
rs11832486	1.00[ASN][1000 genomes]
rs11833720	1.00[ASN][1000 genomes]
rs11833750	1.00[ASN][1000 genomes]
rs11837291	1.00[ASN][1000 genomes]
rs1319489	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101986	0.86[AMR][1000 genomes]
rs2351019	0.84[AMR][1000 genomes]
rs4930879	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930881	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4931252	0.82[AMR][1000 genomes]
rs56177622	1.00[ASN][1000 genomes]
rs56746984	1.00[ASN][1000 genomes]
rs58614462	0.92[AFR][1000 genomes]
rs58821205	1.00[ASN][1000 genomes]
rs60755931	1.00[ASN][1000 genomes]
rs61212190	1.00[ASN][1000 genomes]
rs7138096	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7300239	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7300353	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7306144	0.96[AFR][1000 genomes]
rs7307772	0.91[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73089163	1.00[ASN][1000 genomes]
rs73089164	1.00[ASN][1000 genomes]
rs73089172	1.00[ASN][1000 genomes]
rs73089173	1.00[ASN][1000 genomes]
rs73089175	1.00[ASN][1000 genomes]
rs73089181	1.00[ASN][1000 genomes]
rs73287791	0.88[AFR][1000 genomes]
rs73287801	0.88[AFR][1000 genomes]
rs73287802	0.94[AFR][1000 genomes]
rs7953845	1.00[ASN][1000 genomes]
rs7959152	0.90[EUR][1000 genomes]
rs7968310	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7979125	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30215800-30220200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:30219200-30221200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr12:30219400-30220200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:30219800-30221200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:30220000-30220400	Enhancers	Osteobl	bone

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