Variant report

Variant	rs216980
Chromosome Location	chr8:90637402-90637403
allele	C/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	JUND	chr8:90637323-90637487	HepG2	liver:	n/a	chr8:90637372-90637381 chr8:90637371-90637382 chr8:90637373-90637381 chr8:90637373-90637380 chr8:90637373-90637382
2	FOSL1	chr8:90637088-90637631	HCT-116	colon:	n/a	chr8:90637372-90637381 chr8:90637373-90637381 chr8:90637373-90637380 chr8:90637373-90637382

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:90630071..90632374-chr8:90637298..90640018,2	K562	blood:

Variant related genes	Relation type
ENSG00000251136	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs216982	0.90[CEU][hapmap];0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs218922	0.86[CEU][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs311652	0.82[EUR][1000 genomes]
rs311655	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1028969	chr8:90475194-90650295	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv427825	chr8:90495139-90653696	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv870380	chr8:90546585-90720182	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1028026	chr8:90553930-90678631	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv982109	chr8:90556188-90703631	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1026523	chr8:90558935-90722580	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv1017263	chr8:90605445-90722580	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90599600-90650800	Weak transcription	Left Ventricle	heart
2	chr8:90616000-90652600	Weak transcription	Ovary	ovary
3	chr8:90621200-90637600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:90624400-90640400	Weak transcription	Aorta	Aorta
5	chr8:90624600-90642800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:90626000-90649200	Weak transcription	Brain Angular Gyrus	brain
7	chr8:90629400-90644600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:90629400-90659000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:90631200-90642000	Weak transcription	HSMMtube	muscle
10	chr8:90635200-90641600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:90636000-90637600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:90636000-90637600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr8:90636000-90637600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr8:90636000-90637600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr8:90636400-90637600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:90636400-90637600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:90636600-90638200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:90636600-90642600	Weak transcription	Lung	lung
19	chr8:90636800-90637600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:90636800-90638200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:90636800-90642000	Weak transcription	Gastric	stomach
22	chr8:90637000-90637600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr8:90637400-90641200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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