Variant report

Variant	rs4841434
Chromosome Location	chr8:10586123-10586124
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	TEAD4	chr8:10586077-10586344	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr8:10585889-10586632	SK-N-SH	brain:	n/a	n/a
3	RAD21	chr8:10586059-10586447	HCT-116	colon:	n/a	n/a
4	SMC3	chr8:10585887-10586486	SK-N-SH	brain:	n/a	n/a
5	TCF7L2	chr8:10586064-10586150	Hela-S3	cervix:	n/a	n/a
6	RAD21	chr8:10586041-10586458	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr8:10585330-10588586	HUVEC	blood vessel:	n/a	n/a
8	RAD21	chr8:10586094-10586389	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr8:10585769-10586732	HUVEC	blood vessel:	n/a	n/a
10	RAD21	chr8:10586120-10586460	H1-hESC	embryonic stem cell:	n/a	n/a
11	SMC3	chr8:10586087-10586454	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr8:10586069-10586366	H1-hESC	embryonic stem cell:	n/a	chr8:10586287-10586305
13	RAD21	chr8:10586066-10586459	A549	lung:	n/a	n/a
14	RCOR1	chr8:10586034-10586234	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr8:10586047-10586355	HUVEC	blood vessel:	n/a	n/a
16	RAD21	chr8:10586016-10586499	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr8:10586042-10586519	SK-N-SH	brain:	n/a	chr8:10586287-10586305

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10447691..10448293-chr8:10586014..10586821,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248896	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10100209	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10100333	0.93[EUR][1000 genomes]
rs4841436	0.85[EUR][1000 genomes]
rs4841437	0.85[EUR][1000 genomes]
rs6601512	0.88[EUR][1000 genomes]
rs6601513	0.85[EUR][1000 genomes]
rs6991641	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6995692	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6996056	0.85[ASN][1000 genomes]
rs7005905	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7007318	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7018288	0.84[ASN][1000 genomes]
rs7836366	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
8	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
9	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
10	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
11	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
rs4841434	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10576800-10587200	Weak transcription	Gastric	stomach
2	chr8:10580200-10587200	Weak transcription	Pancreas	Pancrea
3	chr8:10584000-10586400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
4	chr8:10584400-10588000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
5	chr8:10585000-10587000	Active TSS	Lung	lung
6	chr8:10585200-10588400	Bivalent/Poised TSS	Left Ventricle	heart
7	chr8:10585400-10586800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:10585400-10586800	Active TSS	Adipose Nuclei	Adipose
9	chr8:10585400-10587000	Bivalent/Poised TSS	Placenta	Placenta
10	chr8:10585400-10587000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
11	chr8:10585400-10587200	Active TSS	Right Ventricle	heart
12	chr8:10585600-10586200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:10585600-10586200	Flanking Active TSS	Hela-S3	cervix
14	chr8:10585600-10586400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:10585800-10586400	Flanking Active TSS	NHEK	skin
16	chr8:10585800-10587000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr8:10585800-10587000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
18	chr8:10585800-10587000	Active TSS	Psoas Muscle	Psoas
19	chr8:10585800-10587000	Flanking Active TSS	HMEC	breast
20	chr8:10586000-10586200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:10586000-10586200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:10586000-10586200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
23	chr8:10586000-10586200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
24	chr8:10586000-10586200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
25	chr8:10586000-10586200	Flanking Active TSS	Spleen	Spleen
26	chr8:10586000-10586400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:10586000-10586400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr8:10586000-10586400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:10586000-10586600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:10586000-10586600	Enhancers	Liver	Liver
31	chr8:10586000-10586800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
32	chr8:10586000-10586800	Bivalent/Poised TSS	Fetal Stomach	stomach
33	chr8:10586000-10587000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:10586000-10587000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:10586000-10587200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:10586000-10588600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
37	chr8:10586000-10588800	Active TSS	Right Atrium	heart

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