Variant report

Variant	rs73213444
Chromosome Location	chr12:119610241-119610242
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11064685	0.93[EUR][1000 genomes]
rs11064694	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11064695	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11064699	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11064701	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11064704	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12227588	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12811848	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12812680	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34109560	0.89[EUR][1000 genomes]
rs34168259	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34658242	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34689026	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35911573	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36005387	0.87[EUR][1000 genomes]
rs3782919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66886955	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67681082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68062239	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68067444	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7138273	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7303637	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7304005	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73213443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7975529	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9634173	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv902	chr12:119576112-119621140	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899550	chr12:119581131-119654315	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119597400-119613800	Weak transcription	Aorta	Aorta
2	chr12:119598400-119613800	Weak transcription	Right Atrium	heart
3	chr12:119603200-119612200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:119604400-119613600	Enhancers	Placenta	Placenta
5	chr12:119607400-119611000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:119607600-119611200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:119609000-119616000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:119609200-119612600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:119609400-119613800	Weak transcription	Esophagus	oesophagus
10	chr12:119609400-119614000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:119609600-119610400	Enhancers	Fetal Brain Male	brain
12	chr12:119609800-119615800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:119610000-119612200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr12:119610000-119613200	Weak transcription	Hela-S3	cervix
15	chr12:119610200-119611000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:119610200-119613800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:119610200-119614000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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