Variant report

Variant	rs10100333
Chromosome Location	chr8:10584288-10584289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr8:10584250-10584333	MCF-7	breast:	n/a	n/a
2	POLR2A	chr8:10583978-10584363	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr8:10584108-10584370	Hela-S3	cervix:	n/a	n/a
4	BHLHE40	chr8:10584116-10584359	K562	blood:	n/a	n/a
5	POLR2A	chr8:10583905-10584369	HUVEC	blood vessel:	n/a	n/a
6	MYC	chr8:10584076-10584353	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr8:10584148-10584342	MCF-7	breast:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10583182..10585584-chr8:10585920..10587606,2	K562	blood:
2	chr8:10582499..10584929-chr8:10712844..10715124,2	K562	blood:
3	chr8:10581535..10584414-chr8:10592948..10594895,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000248896	TF binding region
ENSG00000248896	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10100209	0.95[EUR][1000 genomes]
rs11774893	0.87[ASN][1000 genomes]
rs4841434	0.93[EUR][1000 genomes]
rs4841436	0.88[EUR][1000 genomes]
rs4841437	0.88[EUR][1000 genomes]
rs55871318	0.85[ASN][1000 genomes]
rs6601512	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6601513	0.88[EUR][1000 genomes]
rs6991641	0.83[EUR][1000 genomes]
rs7005905	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7007318	0.94[EUR][1000 genomes]
rs7836366	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1028266	chr8:10537081-10586112	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1032725	chr8:10561962-10585683	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
13	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10100333	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10576800-10587200	Weak transcription	Gastric	stomach
2	chr8:10577000-10586000	Weak transcription	Right Atrium	heart
3	chr8:10580200-10587200	Weak transcription	Pancreas	Pancrea
4	chr8:10580600-10585200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:10580600-10586000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:10581600-10584600	Strong transcription	HMEC	breast
7	chr8:10582000-10584800	Strong transcription	NHEK	skin
8	chr8:10583000-10584400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr8:10583000-10584400	ZNF genes & repeats	Lung	lung
10	chr8:10583200-10585400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:10583400-10586000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
12	chr8:10583600-10584400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:10583600-10584400	Transcr. at gene 5' and 3'	Right Ventricle	heart
14	chr8:10583800-10584400	Genic enhancers	Esophagus	oesophagus
15	chr8:10583800-10586000	Weak transcription	Liver	Liver
16	chr8:10583800-10586000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
17	chr8:10584000-10584400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
18	chr8:10584000-10585400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr8:10584000-10586400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
20	chr8:10584200-10584400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:10584200-10584400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
22	chr8:10584200-10584400	Bivalent Enhancer	Fetal Heart	heart
23	chr8:10584200-10584400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
24	chr8:10584200-10585000	Weak transcription	Spleen	Spleen
25	chr8:10584200-10585400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:10584200-10585400	Genic enhancers	Hela-S3	cervix

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