Variant report

Variant	rs7954044
Chromosome Location	chr12:39254868-39254869
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10876062	0.95[EUR][1000 genomes]
rs10876185	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1095571	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11169878	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11837377	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12422883	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424244	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12424853	0.85[EUR][1000 genomes]
rs12425783	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427196	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12580722	0.85[EUR][1000 genomes]
rs17126713	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1878223	0.80[EUR][1000 genomes]
rs1878224	0.80[EUR][1000 genomes]
rs56989350	0.93[ASN][1000 genomes]
rs57950648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58235891	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59843534	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60409162	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60863548	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61636003	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7138835	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7307936	0.85[EUR][1000 genomes]
rs73084040	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73084043	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73084050	0.98[ASN][1000 genomes]
rs73084066	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73084068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308580	0.83[EUR][1000 genomes]
rs73089536	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73089563	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73089574	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7309194	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7315047	0.98[ASN][1000 genomes]
rs7968397	0.80[EUR][1000 genomes]
rs7971601	0.80[EUR][1000 genomes]
rs7974510	0.80[EUR][1000 genomes]
rs826836	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs826837	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs851931	0.88[ASN][1000 genomes]
rs9943730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1047623	chr12:39187817-39539939	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv3389115	chr12:39221256-39448458	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39203200-39276000	Weak transcription	Aorta	Aorta
2	chr12:39204000-39284800	Weak transcription	Lung	lung
3	chr12:39238800-39271600	Weak transcription	NHEK	skin
4	chr12:39239200-39284000	Weak transcription	Hela-S3	cervix
5	chr12:39247600-39255000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:39247600-39257800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:39250600-39273200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:39251200-39265000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:39252200-39276000	Weak transcription	Left Ventricle	heart
10	chr12:39252600-39257400	Weak transcription	Ovary	ovary
11	chr12:39252600-39262800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:39252600-39265000	Weak transcription	Liver	Liver
13	chr12:39252600-39272000	Weak transcription	A549	lung
14	chr12:39253000-39256600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:39253000-39257400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:39253000-39265000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr12:39253000-39279600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:39253200-39272200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:39253400-39257200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr12:39254000-39255000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr12:39254200-39255600	ZNF genes & repeats	GM12878-XiMat	blood
22	chr12:39254400-39255000	Enhancers	HUVEC	blood vessel
23	chr12:39254400-39265000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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