Variant report

Variant	rs7009316
Chromosome Location	chr8:58055013-58055014
allele	A/T
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	NFYB	chr8:58054968-58055360	K562	blood:	n/a	chr8:58055173-58055186 chr8:58055174-58055184 chr8:58055171-58055186 chr8:58055171-58055186 chr8:58055172-58055186

Variant related genes	Relation type
ENSG00000253301	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10086384	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59490468	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7013450	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72649135	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1027125	chr8:57891279-58095884	Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv890933	chr8:58005923-58084006	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv890934	chr8:58037522-58112053	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv890935	chr8:58038406-58114743	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv12840	chr8:58046936-58196713	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv3693378	chr8:58051501-58128557	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58054800-58055200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
2	chr8:58054800-58055200	Bivalent Enhancer	Fetal Stomach	stomach
3	chr8:58054800-58055400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
4	chr8:58054800-58055600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:58054800-58055600	Active TSS	Brain Anterior Caudate	brain
6	chr8:58054800-58055600	Bivalent Enhancer	Placenta	Placenta
7	chr8:58054800-58055800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr8:58054800-58055800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
9	chr8:58054800-58056000	Enhancers	Lung	lung
10	chr8:58054800-58056200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:58054800-58056400	Active TSS	Brain Germinal Matrix	brain
12	chr8:58054800-58057000	Active TSS	Fetal Brain Female	brain
13	chr8:58055000-58055200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr8:58055000-58055200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:58055000-58055200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:58055000-58055200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
17	chr8:58055000-58055200	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr8:58055000-58055200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
19	chr8:58055000-58055200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
20	chr8:58055000-58055200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
21	chr8:58055000-58055400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:58055000-58055400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:58055000-58055400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:58055000-58055400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr8:58055000-58055400	Flanking Active TSS	Pancreas	Pancrea
26	chr8:58055000-58055400	Enhancers	Spleen	Spleen
27	chr8:58055000-58055400	Bivalent Enhancer	HMEC	breast
28	chr8:58055000-58055600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr8:58055000-58055600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr8:58055000-58055600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr8:58055000-58055600	Bivalent Enhancer	Left Ventricle	heart
32	chr8:58055000-58055600	Active TSS	Right Atrium	heart
33	chr8:58055000-58055600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
34	chr8:58055000-58055600	Bivalent Enhancer	Thymus	Thymus
35	chr8:58055000-58055800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:58055000-58056000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:58055000-58056000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr8:58055000-58056000	Bivalent Enhancer	Ovary	ovary

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