Variant report

Variant	rs2047645
Chromosome Location	chr8:96516080-96516081
allele	G/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	RAD21	chr8:96515607-96516104	MCF-7	breast:	n/a	chr8:96515798-96515810
2	RAD21	chr8:96515540-96516118	H1-hESC	embryonic stem cell:	n/a	chr8:96515798-96515810
3	CTCF	chr8:96515553-96516093	MCF-7	breast:	n/a	chr8:96515820-96515833
4	CTCF	chr8:96515587-96516098	MCF-7	breast:	n/a	chr8:96515820-96515833
5	RAD21	chr8:96515631-96516141	HCT-116	colon:	n/a	chr8:96515798-96515810
6	RAD21	chr8:96515630-96516089	HCT-116	colon:	n/a	chr8:96515798-96515810

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:96515360..96516198-chr8:96770656..96771587,2	MCF-7	breast:
2	chr13:83085927..83086427-chr8:96515336..96516158,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253872	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3133736	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842490	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026549	chr8:96367183-96573134	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539681	chr8:96367183-96573134	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030659	chr8:96380353-97142611	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv611760	chr8:96428448-96607028	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv428823	chr8:96447739-96598307	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv465743	chr8:96472423-96518204	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv611762	chr8:96472423-96518204	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1798999	chr8:96498811-96518612	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1793606	chr8:96500286-96518673	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96515400-96516200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr8:96515400-96516200	Enhancers	HSMM	muscle
3	chr8:96515600-96516200	Enhancers	Fetal Stomach	stomach
4	chr8:96515600-96516400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:96515800-96516200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr8:96515800-96516200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr8:96515800-96516200	Enhancers	Ovary	ovary
8	chr8:96515800-96516200	Flanking Active TSS	HSMMtube	muscle
9	chr8:96515800-96516400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:96515800-96516400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:96515800-96516400	Active TSS	Brain Anterior Caudate	brain
12	chr8:96515800-96516400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:96515800-96516400	Enhancers	Fetal Lung	lung
14	chr8:96515800-96516400	Flanking Active TSS	Osteobl	bone
15	chr8:96516000-96516200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:96516000-96516200	Enhancers	Adipose Nuclei	Adipose
17	chr8:96516000-96516200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr8:96516000-96516400	Active TSS	Brain Hippocampus Middle	brain
19	chr8:96516000-96516400	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr8:96516000-96516400	Enhancers	NH-A	brain

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