Variant report

Variant	rs12719181
Chromosome Location	chr5:113822205-113822206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12515458	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13153326	0.93[ASN][1000 genomes]
rs13154435	0.88[ASN][1000 genomes]
rs13154738	0.88[ASN][1000 genomes]
rs13156054	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13156389	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13160352	0.86[ASN][1000 genomes]
rs13179209	0.84[ASN][1000 genomes]
rs1459782	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1459789	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1599176	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17136666	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17459453	0.86[ASN][1000 genomes]
rs1834400	0.81[ASN][1000 genomes]
rs1841248	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1975851	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2125772	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2125773	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34484477	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34512774	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34702458	0.84[ASN][1000 genomes]
rs35211026	0.99[EUR][1000 genomes]
rs35386131	0.88[ASN][1000 genomes]
rs35495721	0.88[ASN][1000 genomes]
rs35641030	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3891371	0.88[ASN][1000 genomes]
rs4466150	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4705506	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4705671	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6889371	0.99[EUR][1000 genomes]
rs7730205	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs898354	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs977850	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830451	chr5:113684301-113829833	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv882729	chr5:113743628-114497708	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830452	chr5:113798617-113975228	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1020798	chr5:113821828-114392727	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv537867	chr5:113821828-114392727	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113813800-113843400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:113814000-113833600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:113814800-113823000	Weak transcription	Liver	Liver
4	chr5:113814800-113830600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr5:113815400-113822800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:113821400-113822600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:113821800-113822800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:113821800-113824200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:113821800-113827800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:113822000-113822400	Enhancers	Left Ventricle	heart
11	chr5:113822000-113822400	Enhancers	Psoas Muscle	Psoas
12	chr5:113822200-113822400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:113822200-113822400	Enhancers	Right Ventricle	heart
14	chr5:113822200-113824400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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