Variant report

Variant	rs12578244
Chromosome Location	chr12:29328220-29328221
allele	C/T
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:29)

rs_ID	r²[population]
rs10431273	0.89[EUR][1000 genomes]
rs10771491	0.83[ASN][1000 genomes]
rs10843341	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11049998	0.82[AMR][1000 genomes]
rs11050024	0.87[AMR][1000 genomes]
rs11050038	0.87[AMR][1000 genomes]
rs11050069	0.85[AMR][1000 genomes]
rs11050080	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11050082	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11050085	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050094	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11050097	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050105	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050116	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11050119	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050122	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11537408	0.87[AMR][1000 genomes]
rs7136405	0.87[AMR][1000 genomes]
rs73073792	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307501	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7308340	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7316695	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954686	0.88[EUR][1000 genomes]
rs7959020	0.87[AMR][1000 genomes]
rs7969699	0.88[EUR][1000 genomes]
rs7972016	0.87[AMR][1000 genomes]
rs7973139	0.82[AMR][1000 genomes]
rs7976269	0.82[AMR][1000 genomes]
rs924108	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29317600-29340800	Weak transcription	Left Ventricle	heart
2	chr12:29318400-29329600	Weak transcription	NHLF	lung
3	chr12:29322400-29335600	Weak transcription	Gastric	stomach
4	chr12:29323000-29329600	Weak transcription	Adipose Nuclei	Adipose
5	chr12:29323000-29332400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:29324000-29329600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:29325000-29329200	Weak transcription	HUVEC	blood vessel
8	chr12:29325200-29328400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:29325200-29329200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:29325200-29329800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:29325200-29330200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:29325200-29335000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:29325400-29329800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:29325400-29364600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:29325600-29344000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:29325800-29328600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:29326400-29329600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:29327600-29328600	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr12:29327600-29328800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr12:29327800-29328800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:29328000-29328400	Enhancers	Rectal Mucosa Donor 29	rectum

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