Variant report

Variant	rs73327521
Chromosome Location	chr8:119394232-119394233
allele	C/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: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16890916	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16890917	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16890925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59611113	0.87[AMR][1000 genomes]
rs73325686	0.87[AMR][1000 genomes]
rs73325687	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73325688	0.87[AMR][1000 genomes]
rs73325692	0.87[AMR][1000 genomes]
rs73325697	0.87[AMR][1000 genomes]
rs73325699	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73327518	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327539	0.85[AMR][1000 genomes]
rs73327541	0.85[AMR][1000 genomes]
rs73709942	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs744079	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs744082	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs747033	0.97[AFR][1000 genomes];1.00[AMR][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:34 , 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	chr8:119389600-119394400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:119390400-119404000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:119391400-119394400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:119391600-119399000	Weak transcription	Aorta	Aorta
13	chr8:119391800-119397000	Enhancers	HUVEC	blood vessel
14	chr8:119392600-119394400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:119392600-119398000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:119392600-119398200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:119392600-119398800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:119392800-119394400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:119392800-119394400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:119392800-119394400	Weak transcription	NHEK	skin
21	chr8:119392800-119394600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:119392800-119394600	Weak transcription	NHDF-Ad	bronchial
23	chr8:119392800-119395400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:119392800-119395600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:119392800-119396400	Weak transcription	HMEC	breast
26	chr8:119393600-119394400	Enhancers	Liver	Liver
27	chr8:119393800-119394400	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr8:119394000-119394800	Enhancers	Gastric	stomach
29	chr8:119394000-119395600	Enhancers	A549	lung
30	chr8:119394000-119396800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr8:119394200-119394600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:119394200-119394600	Enhancers	Fetal Brain Male	brain
33	chr8:119394200-119394800	Enhancers	Osteobl	bone
34	chr8:119394200-119397400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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