Variant report

Variant	rs34799141
Chromosome Location	chr12:8796326-8796327
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10466796	0.91[EUR][1000 genomes]
rs10505737	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11544165	0.94[EUR][1000 genomes]
rs12301158	0.94[EUR][1000 genomes]
rs12321016	0.94[EUR][1000 genomes]
rs12322866	0.85[EUR][1000 genomes]
rs12322918	0.90[EUR][1000 genomes]
rs12812305	0.94[EUR][1000 genomes]
rs12813004	0.94[EUR][1000 genomes]
rs12815849	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12821619	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12825998	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2043943	0.82[EUR][1000 genomes]
rs2289382	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2289383	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2289384	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2289385	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34033038	0.94[EUR][1000 genomes]
rs34079958	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34470474	0.90[EUR][1000 genomes]
rs34847713	0.89[EUR][1000 genomes]
rs35230480	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35327409	0.94[EUR][1000 genomes]
rs35918490	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs66552846	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71447520	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71447521	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71447522	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71447523	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71447524	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71447525	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048336	chr12:8663355-8797018	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8783000-8797600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr12:8783400-8797200	Weak transcription	HSMMtube	muscle
3	chr12:8788000-8798600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:8789600-8813400	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:8790600-8797400	Weak transcription	NHEK	skin
6	chr12:8792200-8797600	Weak transcription	Gastric	stomach
7	chr12:8792400-8800600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:8792400-8801200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:8792600-8797600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:8792600-8800000	Weak transcription	Placenta	Placenta
11	chr12:8792600-8808000	Weak transcription	Hela-S3	cervix
12	chr12:8792600-8814600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:8792800-8797200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:8792800-8797400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:8793000-8797400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:8793000-8800600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:8795000-8808400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:8795400-8796800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:8796000-8796600	Enhancers	Thymus	Thymus
20	chr12:8796200-8796400	Enhancers	GM12878-XiMat	blood
21	chr12:8796200-8796800	Enhancers	Fetal Thymus	thymus
22	chr12:8796200-8798600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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