Variant report

Variant	rs10089739
Chromosome Location	chr8:10586799-10586800
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
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	SMARCB1	chr8:10586691-10588210	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr8:10586796-10586949	Hela-S3	cervix:	n/a	n/a
3	SUZ12	chr8:10586699-10587452	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:10586467-10588463	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr8:10585330-10588586	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr8:10586740-10586890	BE2_C	brain:	n/a	n/a
7	IRF1	chr8:10586740-10586844	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:10586790-10586840	MCF10A-Er-Src	breast:	n/a
2	chr8:10586790-10586840	SK-N-SH_RA	brain:	n/a
3	chr8:10586796-10586846	ProgFib	skin:	n/a
4	chr8:10586796-10586846	RPTEC	kidney:	n/a
5	chr8:10586796-10586846	SKMC	muscle:	n/a
6	chr8:10586796-10586846	HNPCEpiC	eye:	n/a
7	chr8:10586790-10586840	HRCEpiC	kidney:	n/a
8	chr8:10586790-10586840	HepG2	liver:	n/a
9	chr8:10586796-10586846	HRCEpiC	kidney:	n/a
10	chr8:10586796-10586846	NH-A	brain:	n/a
11	chr8:10586790-10586840	SK-N-MC	brain:	n/a
12	chr8:10586796-10586846	GM19239	blood:	n/a
13	chr8:10586796-10586846	K562	blood:	n/a
14	chr8:10586796-10586846	PFSK-1	brain:	n/a
15	chr8:10586790-10586840	Hela-S3	cervix:	n/a
16	chr8:10586796-10586846	ECC-1	luminal epithelium:	n/a
17	chr8:10586796-10586846	PrEC	prostate:	n/a
18	chr8:10586790-10586840	PANC-1	pancreas:	n/a
19	chr8:10586790-10586840	SAEC	small airway:	n/a
20	chr8:10586796-10586846	NT2-D1	testis:	n/a
21	chr8:10586790-10586840	AG09309	skin:	n/a
22	chr8:10586796-10586846	HRPEpiC	eye:	n/a
23	chr8:10586796-10586846	BE2_C	brain:	n/a
24	chr8:10586790-10586840	NB4	blood:	n/a
25	chr8:10586790-10586840	AG04450	lung:	fetal
26	chr8:10586796-10586846	NB4	blood:	n/a
27	chr8:10586790-10586840	Caco-2	colon:	n/a
28	chr8:10586790-10586840	HMEC	breast:	n/a
29	chr8:10586790-10586840	HPAEpiC	pulmonary alveolar:	n/a
30	chr8:10586790-10586840	SK-N-SH	brain:	n/a
31	chr8:10586796-10586846	Hela-S3	cervix:	n/a
32	chr8:10586796-10586846	Hepatocyte	liver:	n/a
33	chr8:10586796-10586846	AG09319	gingival:	n/a
34	chr8:10586796-10586846	ovcar-3	ovarian:	n/a
35	chr8:10586796-10586846	AG04449	skin:	fetal
36	chr8:10586796-10586846	HepG2	liver:	n/a
37	chr8:10586790-10586840	HNPCEpiC	eye:	n/a
38	chr8:10586796-10586846	HEK293	kidney:	embryo
39	chr8:10586790-10586840	GM06990	blood:	n/a
40	chr8:10586796-10586846	HCPEpiC	choroid plexus:	n/a
41	chr8:10586790-10586840	HEK293	kidney:	embryo
42	chr8:10586796-10586846	PANC-1	pancreas:	n/a
43	chr8:10586790-10586840	PrEC	prostate:	n/a
44	chr8:10586796-10586846	AoSMC	blood vessel:	n/a
45	chr8:10586796-10586846	HEEpiC	esophagus:	n/a
46	chr8:10586790-10586840	BE2_C	brain:	n/a
47	chr8:10586790-10586840	NT2-D1	testis:	n/a
48	chr8:10586796-10586846	AG09309	skin:	n/a
49	chr8:10586796-10586846	HAEpiC	amniotic membrane:	n/a
50	chr8:10586790-10586840	HL-60	blood:	n/a

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

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

No data

Variant related genes	Relation type
ENSG00000248896	TF binding region
ENSG00000248896	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13259038	1.00[ASN][1000 genomes]
rs4840511	0.87[EUR][1000 genomes]
rs4840523	1.00[ASN][1000 genomes]
rs4841435	0.87[EUR][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

No data

Chromatin state (count:54 , 50 per page) page: 1 2

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	chr8:10584400-10588000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
4	chr8:10585000-10587000	Active TSS	Lung	lung
5	chr8:10585200-10588400	Bivalent/Poised TSS	Left Ventricle	heart
6	chr8:10585400-10586800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:10585400-10586800	Active TSS	Adipose Nuclei	Adipose
8	chr8:10585400-10587000	Bivalent/Poised TSS	Placenta	Placenta
9	chr8:10585400-10587000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
10	chr8:10585400-10587200	Active TSS	Right Ventricle	heart
11	chr8:10585800-10587000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
12	chr8:10585800-10587000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
13	chr8:10585800-10587000	Active TSS	Psoas Muscle	Psoas
14	chr8:10585800-10587000	Flanking Active TSS	HMEC	breast
15	chr8:10586000-10586800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
16	chr8:10586000-10586800	Bivalent/Poised TSS	Fetal Stomach	stomach
17	chr8:10586000-10587000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:10586000-10587000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:10586000-10587200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:10586000-10588600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
21	chr8:10586000-10588800	Active TSS	Right Atrium	heart
22	chr8:10586200-10586800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:10586200-10586800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr8:10586200-10587000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr8:10586200-10587000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:10586200-10587200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:10586200-10587200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
28	chr8:10586200-10588800	Active TSS	Hela-S3	cervix
29	chr8:10586400-10586800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
30	chr8:10586400-10587000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr8:10586400-10587200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:10586400-10588000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
33	chr8:10586400-10588000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
34	chr8:10586400-10588400	Active TSS	HUVEC	blood vessel
35	chr8:10586400-10588400	Active TSS	NHEK	skin
36	chr8:10586600-10586800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:10586600-10586800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr8:10586600-10586800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr8:10586600-10586800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
40	chr8:10586600-10586800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:10586600-10586800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:10586600-10586800	Bivalent/Poised TSS	Colonic Mucosa	Colon
43	chr8:10586600-10586800	Bivalent/Poised TSS	Esophagus	oesophagus
44	chr8:10586600-10587000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr8:10586600-10587000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:10586600-10587000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:10586600-10587000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
48	chr8:10586600-10587000	Bivalent Enhancer	Fetal Brain Male	brain
49	chr8:10586600-10587200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr8:10586600-10587200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood

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