Variant report

Variant	rs12678322
Chromosome Location	chr8:119394878-119394879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr8:119394152-119395073	PBDE	blood:	n/a	chr8:119394460-119394471

Variant related genes	Relation type
SAMD12	TF binding region

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10086119	0.99[ASN][1000 genomes]
rs10955873	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11774073	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11785720	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11786582	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11992702	0.99[ASN][1000 genomes]
rs12675253	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12675261	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12679535	0.85[EUR][1000 genomes]
rs17828843	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17828909	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3802189	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3802190	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4876812	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4876815	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4876818	0.93[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55787225	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094074	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62532688	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62532690	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62532691	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62532692	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62532693	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62533396	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62533397	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv831443	chr8:119390590-119590662	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119359600-119398600	Weak transcription	Lung	lung
2	chr8:119362600-119395400	Weak transcription	Pancreas	Pancrea
3	chr8:119362800-119398200	Weak transcription	GM12878-XiMat	blood
4	chr8:119382800-119395200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:119383000-119399400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:119385200-119399000	Weak transcription	Brain Angular Gyrus	brain
7	chr8:119386200-119395200	Weak transcription	Fetal Intestine Large	intestine
8	chr8:119387200-119399800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr8:119390400-119404000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:119391600-119399000	Weak transcription	Aorta	Aorta
11	chr8:119391800-119397000	Enhancers	HUVEC	blood vessel
12	chr8:119392600-119398000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:119392600-119398200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:119392600-119398800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:119392800-119395400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:119392800-119395600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:119392800-119396400	Weak transcription	HMEC	breast
18	chr8:119394000-119395600	Enhancers	A549	lung
19	chr8:119394000-119396800	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:119394200-119397400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:119394400-119397400	Enhancers	NHEK	skin
22	chr8:119394400-119399000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:119394600-119395600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:119394600-119395800	Weak transcription	Fetal Intestine Small	intestine
25	chr8:119394600-119397200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:119394800-119395400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:119394800-119395400	Weak transcription	Stomach Mucosa	stomach
28	chr8:119394800-119395800	Weak transcription	Gastric	stomach
29	chr8:119394800-119396000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:119394800-119400200	Enhancers	Liver	Liver
31	chr8:119394800-119402600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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