Variant report

Variant	rs55875100
Chromosome Location	chr8:87052014-87052015
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	TEAD4	chr8:87051810-87052119	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYC	chr8:87051910-87052071	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr8:87051986-87052133	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86990914..86993780-chr8:87050538..87053363,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243761	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11997312	1.00[AMR][1000 genomes]
rs55638186	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57222805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57950594	1.00[AMR][1000 genomes]
rs59388462	1.00[AMR][1000 genomes]
rs60405506	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61342746	1.00[AMR][1000 genomes]
rs73688551	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688557	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688569	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688570	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688572	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688573	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688575	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73688589	1.00[AMR][1000 genomes]
rs73688590	1.00[AMR][1000 genomes]
rs73688591	1.00[AMR][1000 genomes]
rs73688600	1.00[AMR][1000 genomes]
rs73691712	1.00[AMR][1000 genomes]
rs73691717	1.00[AMR][1000 genomes]
rs73691718	1.00[AMR][1000 genomes]
rs73691729	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758162	chr8:86405478-87055053	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759624	chr8:86405478-87055053	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv428204	chr8:86405478-87312208	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv1028959	chr8:86835367-87142383	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv891146	chr8:86841229-87083747	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv891147	chr8:86886950-87333968	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1034721	chr8:86977250-87131151	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv891148	chr8:86987886-87149808	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv891149	chr8:87023306-87167184	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1034855	chr8:87040075-87168730	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87048800-87057400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:87051200-87052200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:87051200-87052200	Active TSS	Brain Angular Gyrus	brain
4	chr8:87051200-87052200	Active TSS	Brain Anterior Caudate	brain
5	chr8:87051200-87052200	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr8:87051200-87052400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr8:87051200-87052400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:87051200-87052400	Active TSS	Psoas Muscle	Psoas
9	chr8:87051400-87052200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:87051400-87052200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:87051400-87052200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:87051400-87052200	Active TSS	Brain Cingulate Gyrus	brain
13	chr8:87051400-87052200	Active TSS	Colonic Mucosa	Colon
14	chr8:87051400-87052200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr8:87051400-87052200	Active TSS	Ovary	ovary
16	chr8:87051400-87052200	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr8:87051400-87052200	Active TSS	Right Atrium	heart
18	chr8:87051400-87052200	Flanking Active TSS	HMEC	breast
19	chr8:87051400-87052400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:87051400-87052400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:87051400-87052400	Active TSS	Duodenum Mucosa	Duodenum
22	chr8:87051400-87052400	Active TSS	Rectal Smooth Muscle	rectum
23	chr8:87051400-87052400	Active TSS	NHDF-Ad	bronchial
24	chr8:87051400-87052400	Active TSS	NHEK	skin
25	chr8:87051400-87052400	Active TSS	NHLF	lung
26	chr8:87051400-87052600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:87051400-87052600	Enhancers	Stomach Mucosa	stomach
28	chr8:87051600-87052200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
29	chr8:87051600-87052200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:87051600-87052200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:87051600-87052200	Active TSS	Esophagus	oesophagus
32	chr8:87051600-87052200	Enhancers	Fetal Brain Male	brain
33	chr8:87051600-87052200	Flanking Active TSS	Placenta	Placenta
34	chr8:87051600-87052200	Active TSS	Fetal Stomach	stomach
35	chr8:87051600-87052200	Active TSS	Left Ventricle	heart
36	chr8:87051600-87052200	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr8:87051600-87052200	Bivalent/Poised TSS	HepG2	liver
38	chr8:87051600-87052400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:87051600-87052400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr8:87051600-87052400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:87051600-87052400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:87051600-87052400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:87051600-87052400	Active TSS	Aorta	Aorta
44	chr8:87051600-87052400	Active TSS	Liver	Liver
45	chr8:87051600-87052400	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr8:87051600-87052400	Active TSS	Brain Substantia Nigra	brain
47	chr8:87051600-87052400	Active TSS	Colon Smooth Muscle	Colon
48	chr8:87051600-87052400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr8:87051600-87052400	Active TSS	A549	lung
50	chr8:87051800-87052200	Enhancers	H1 Cell Line	embryonic stem cell

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