Variant report

Variant	rs55638716
Chromosome Location	chr8:20207635-20207636
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	E2F6	chr8:20207469-20208484	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr8:20207519-20208354	H1-hESC	embryonic stem cell:	n/a	chr8:20207887-20207896 chr8:20207885-20207893
3	JUND	chr8:20207443-20207636	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr8:20207565-20208197	H1-hESC	embryonic stem cell:	n/a	chr8:20207887-20207896 chr8:20207885-20207893
5	ZNF143	chr8:20207535-20207874	H1-hESC	embryonic stem cell:	n/a	chr8:20207710-20207729

Variant related genes	Relation type
ENSG00000253164	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10503679	0.82[EUR][1000 genomes]
rs17092258	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17412582	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17412623	0.82[EUR][1000 genomes]
rs17490756	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17490805	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17490895	0.82[EUR][1000 genomes]
rs4601325	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4922159	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4922160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4922161	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4922175	0.82[EUR][1000 genomes]
rs56098307	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56137757	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6586910	0.81[ASN][1000 genomes]
rs7011182	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs985577	0.82[EUR][1000 genomes]
rs985578	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv831256	chr8:20162233-20300224	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr8:20205000-20207800	Enhancers	Fetal Stomach	stomach
2	chr8:20205800-20208000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
3	chr8:20206400-20207800	Enhancers	HSMMtube	muscle
4	chr8:20206400-20208000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:20206400-20208200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:20206400-20208400	Enhancers	Fetal Brain Male	brain
7	chr8:20206400-20208800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr8:20206400-20208800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr8:20206400-20209800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:20206600-20207800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr8:20206600-20207800	Weak transcription	Fetal Kidney	kidney
12	chr8:20206600-20208000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:20206600-20208000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:20206600-20208400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
15	chr8:20206600-20208600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:20206600-20208600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr8:20206800-20208200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:20206800-20208200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:20206800-20213400	Weak transcription	Right Atrium	heart
20	chr8:20207000-20208000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:20207000-20208400	Enhancers	Fetal Muscle Leg	muscle
22	chr8:20207200-20207800	Enhancers	Brain Germinal Matrix	brain
23	chr8:20207200-20208200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:20207400-20207800	Enhancers	Brain Hippocampus Middle	brain
25	chr8:20207400-20207800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr8:20207400-20208000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:20207400-20208200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr8:20207400-20208600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:20207600-20207800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:20207600-20207800	Enhancers	Lung	lung
31	chr8:20207600-20208000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
32	chr8:20207600-20208000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
33	chr8:20207600-20208000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
34	chr8:20207600-20208000	Enhancers	Fetal Brain Female	brain
35	chr8:20207600-20208200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr8:20207600-20208200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:20207600-20208400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
38	chr8:20207600-20208600	Bivalent Enhancer	Adipose Nuclei	Adipose

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