Variant report

Variant	rs12962411
Chromosome Location	chr18:29391523-29391524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10502578	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs12326244	1.00[CHB][hapmap]
rs12327141	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs12956638	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs12959996	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs12963424	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs12965881	0.87[CEU][hapmap]
rs1482517	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1842783	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1915	0.87[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs2035418	1.00[CHB][hapmap];0.90[CHD][hapmap]
rs34426932	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34465567	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35740471	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35887095	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60589551	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71361348	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71372022	0.90[AMR][1000 genomes]
rs7240380	0.97[ASN][1000 genomes]
rs7244508	1.00[CHB][hapmap]
rs9807439	1.00[CHB][hapmap];0.90[CHD][hapmap]

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	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv2247	chr18:29370842-29415712	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29388400-29391600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr18:29388400-29392200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr18:29388800-29401800	Weak transcription	Right Atrium	heart
4	chr18:29389200-29392000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr18:29390000-29392000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr18:29390000-29392200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr18:29390200-29401400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:29390600-29391800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr18:29390600-29392000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr18:29390800-29392000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr18:29390800-29392000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr18:29390800-29392000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr18:29391000-29391600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr18:29391200-29391800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr18:29391200-29392200	Enhancers	HUES6 Cell Line	embryonic stem cell

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