Variant report

Variant	rs73662895
Chromosome Location	chr8:10513000-10513001
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	EP300	chr8:10512092-10513735	SK-N-SH	brain:	n/a	chr8:10513273-10513283
2	TFAP2C	chr8:10509838-10513163	Hela-S3	cervix:	n/a	n/a
3	TFAP2A	chr8:10511980-10513153	Hela-S3	cervix:	n/a	chr8:10512821-10512835 chr8:10512818-10512833 chr8:10512588-10512598 chr8:10512586-10512600 chr8:10512588-10512600 chr8:10512588-10512598 chr8:10512399-10512408 chr8:10512398-10512407 chr8:10512442-10512457 chr8:10512588-10512598
4	SMARCC1	chr8:10510060-10513086	Hela-S3	cervix:	n/a	chr8:10512399-10512408

Variant related genes	Relation type
RP1L1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73662896	0.99[AFR][1000 genomes]
rs73662898	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10504000-10513400	Weak transcription	Right Atrium	heart
2	chr8:10509200-10513000	Enhancers	HMEC	breast
3	chr8:10509400-10513000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:10509400-10513000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:10510200-10513600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:10511000-10513000	Enhancers	Fetal Thymus	thymus
7	chr8:10511200-10513600	Weak transcription	K562	blood
8	chr8:10511400-10513400	Enhancers	A549	lung
9	chr8:10511400-10515000	Enhancers	Brain Germinal Matrix	brain
10	chr8:10512000-10513000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:10512000-10513000	Enhancers	Placenta	Placenta
12	chr8:10512000-10513200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:10512000-10513200	Enhancers	Fetal Brain Male	brain
14	chr8:10512000-10513800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:10512200-10513000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:10512200-10513200	Enhancers	NHEK	skin
17	chr8:10512400-10513000	Enhancers	Lung	lung
18	chr8:10512400-10513200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr8:10512600-10513000	Enhancers	Fetal Brain Female	brain
20	chr8:10512600-10513400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:10512600-10513800	Enhancers	Adipose Nuclei	Adipose
22	chr8:10512600-10519000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:10512800-10514000	Enhancers	Hela-S3	cervix
24	chr8:10513000-10522800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:10513000-10524200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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