Variant report

Variant	rs12323385
Chromosome Location	chr14:81580531-81580532
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10131452	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10131719	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10133928	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10142430	0.97[ASN][1000 genomes]
rs10147462	0.85[ASN][1000 genomes]
rs17111530	0.92[ASN][1000 genomes]
rs2273845	0.85[ASN][1000 genomes]
rs2284737	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2300537	0.83[ASN][1000 genomes]
rs28491084	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28507187	0.87[ASN][1000 genomes]
rs28640259	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28661095	0.87[ASN][1000 genomes]
rs28701878	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28730923	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3783938	0.97[ASN][1000 genomes]
rs3783940	0.98[ASN][1000 genomes]
rs59500227	0.95[ASN][1000 genomes]
rs59645772	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6574628	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7150881	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72627193	0.98[ASN][1000 genomes]
rs72627194	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72627195	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs72627196	0.98[ASN][1000 genomes]
rs72627197	0.92[ASN][1000 genomes]
rs72627198	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8020489	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[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	nsv1052999	chr14:81468860-81599074	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv542144	chr14:81468860-81599074	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr14:81538200-81593000	Weak transcription	Psoas Muscle	Psoas
2	chr14:81566400-81581200	Weak transcription	Fetal Thymus	thymus
3	chr14:81570200-81581200	Weak transcription	Pancreas	Pancrea
4	chr14:81572600-81591400	Weak transcription	Liver	Liver
5	chr14:81579800-81591800	Weak transcription	Thymus	Thymus
6	chr14:81579800-81591800	Weak transcription	Dnd41	blood
7	chr14:81580000-81586600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr14:81580200-81580600	Active TSS	K562	blood
9	chr14:81580200-81581200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr14:81580400-81581000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr14:81580400-81581000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr14:81580400-81581000	Active TSS	H9 Cell Line	embryonic stem cell
13	chr14:81580400-81581000	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr14:81580400-81581000	Active TSS	iPS-18 Cell Line	embryonic stem cell

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