Variant report

Variant	rs7001347
Chromosome Location	chr8:9791335-9791336
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	MYC	chr8:9791316-9791586	H1-hESC	embryonic stem cell:	n/a	n/a
2	GABPA	chr8:9791192-9791552	K562	blood:	n/a	chr8:9791254-9791263 chr8:9791317-9791326
3	MAX	chr8:9791226-9791485	K562	blood:	n/a	chr8:9791262-9791272 chr8:9791255-9791265
4	FOXP2	chr8:9791183-9791579	SK-N-MC	brain:	n/a	n/a
5	CTCF	chr8:9791300-9791450	SK-N-SH_RA	brain:	n/a	n/a
6	TEAD4	chr8:9791193-9791611	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr8:9791196-9791629	MCF-7	breast:	n/a	chr8:9791262-9791272 chr8:9791255-9791265
8	CHD2	chr8:9791147-9791585	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr8:9791056-9791940	H1-hESC	embryonic stem cell:	n/a	chr8:9791254-9791263 chr8:9791251-9791263
10	RAD21	chr8:9791122-9791534	SK-N-SH_RA	brain:	n/a	n/a
11	E2F6	chr8:9791188-9791732	H1-hESC	embryonic stem cell:	n/a	chr8:9791254-9791263 chr8:9791251-9791263
12	TCF12	chr8:9791206-9791526	H1-hESC	embryonic stem cell:	n/a	chr8:9791369-9791379
13	GTF2F1	chr8:9791316-9791481	H1-hESC	embryonic stem cell:	n/a	n/a
14	ELF1	chr8:9791167-9791494	K562	blood:	n/a	chr8:9791263-9791275
15	TBP	chr8:9791180-9791541	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr8:9790828-9791845	SK-N-SH	brain:	n/a	n/a
17	MAX	chr8:9791127-9791830	H1-hESC	embryonic stem cell:	n/a	chr8:9791262-9791272 chr8:9791255-9791265
18	RAD21	chr8:9791187-9791673	H1-hESC	embryonic stem cell:	n/a	n/a
19	GABPA	chr8:9791182-9791601	H1-hESC	embryonic stem cell:	n/a	chr8:9791254-9791263 chr8:9791317-9791326
20	SP2	chr8:9791146-9791432	K562	blood:	n/a	chr8:9791252-9791267
21	SIN3A	chr8:9791122-9791628	H1-hESC	embryonic stem cell:	n/a	n/a
22	USF2	chr8:9791213-9791541	H1-hESC	embryonic stem cell:	n/a	chr8:9791308-9791324
23	RAD21	chr8:9791271-9791673	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF143	chr8:9791149-9791620	H1-hESC	embryonic stem cell:	n/a	n/a
25	GABPA	chr8:9791181-9791444	K562	blood:	n/a	chr8:9791254-9791263 chr8:9791317-9791326
26	MAX	chr8:9791109-9791669	H1-hESC	embryonic stem cell:	n/a	chr8:9791262-9791272 chr8:9791255-9791265
27	CTCF	chr8:9791320-9791505	MCF-7	breast:	n/a	n/a
28	PBX3	chr8:9791202-9791355	GM12878	blood:	n/a	chr8:9791281-9791301
29	MYC	chr8:9791283-9791455	MCF-7	breast:	n/a	n/a
30	PBX3	chr8:9791165-9791488	SK-N-SH	brain:	n/a	chr8:9791281-9791301
31	CBX3	chr8:9791204-9791589	K562	blood:	n/a	n/a
32	PBX3	chr8:9791052-9791398	SK-N-SH	brain:	n/a	chr8:9791281-9791301
33	GABPA	chr8:9791042-9791580	MCF-7	breast:	n/a	chr8:9791254-9791263 chr8:9791317-9791326
34	CTBP2	chr8:9791132-9791603	H1-hESC	embryonic stem cell:	n/a	n/a
35	CREB1	chr8:9791128-9791459	A549	lung:	n/a	n/a
36	NFYB	chr8:9791098-9791431	K562	blood:	n/a	n/a
37	UBTF	chr8:9791268-9791355	K562	blood:	n/a	n/a
38	MXI1	chr8:9791188-9791654	H1-hESC	embryonic stem cell:	n/a	n/a
39	UBTF	chr8:9791265-9791475	K562	blood:	n/a	n/a
40	JUND	chr8:9791224-9791580	H1-hESC	embryonic stem cell:	n/a	n/a
41	SP4	chr8:9791160-9791550	H1-hESC	embryonic stem cell:	n/a	chr8:9791252-9791268 chr8:9791250-9791266 chr8:9791252-9791263 chr8:9791239-9791250
42	MAX	chr8:9791274-9791674	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr8:9791218-9791619	ECC-1	luminal epithelium:	n/a	chr8:9791262-9791272 chr8:9791255-9791265
44	GABPA	chr8:9791073-9791610	MCF-7	breast:	n/a	chr8:9791254-9791263 chr8:9791317-9791326
45	MAX	chr8:9791259-9791631	ECC-1	luminal epithelium:	n/a	chr8:9791262-9791272
46	E2F6	chr8:9791196-9791752	A549	lung:	n/a	chr8:9791254-9791263 chr8:9791251-9791263
47	ZBTB7A	chr8:9791314-9791453	K562	blood:	n/a	n/a
48	MAX	chr8:9791180-9791708	A549	lung:	n/a	chr8:9791262-9791272 chr8:9791255-9791265
49	SP4	chr8:9791132-9791693	H1-hESC	embryonic stem cell:	n/a	chr8:9791252-9791268 chr8:9791250-9791266 chr8:9791252-9791263 chr8:9791239-9791250
50	CTCF	chr8:9791320-9791470	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000238496	TF binding region

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

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

rs_ID	r²[population]
rs10088284	1.00[EUR][1000 genomes]
rs17150856	1.00[EUR][1000 genomes]
rs17150869	1.00[EUR][1000 genomes]
rs28544392	1.00[EUR][1000 genomes]
rs55925951	1.00[EUR][1000 genomes]
rs56353052	1.00[EUR][1000 genomes]
rs6980819	1.00[EUR][1000 genomes]
rs6993192	1.00[EUR][1000 genomes]
rs6998126	1.00[EUR][1000 genomes]
rs73534828	1.00[EUR][1000 genomes]
rs7824016	1.00[EUR][1000 genomes]
rs7842837	1.00[EUR][1000 genomes]
rs9886522	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9788600-9791400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:9790800-9791600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr8:9790800-9791600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
4	chr8:9791000-9791400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:9791000-9791600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:9791000-9791600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
7	chr8:9791000-9791600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:9791000-9791600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:9791000-9791600	Active TSS	Brain Angular Gyrus	brain
10	chr8:9791000-9791600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
11	chr8:9791000-9791600	Flanking Active TSS	HMEC	breast
12	chr8:9791000-9791600	Active TSS	NHEK	skin
13	chr8:9791000-9791800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr8:9791000-9791800	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr8:9791000-9791800	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr8:9791000-9791800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr8:9791000-9791800	Active TSS	Brain Anterior Caudate	brain
18	chr8:9791000-9791800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
19	chr8:9791000-9791800	Active TSS	Brain Hippocampus Middle	brain
20	chr8:9791000-9791800	Enhancers	Fetal Brain Male	brain
21	chr8:9791000-9791800	Active TSS	Fetal Brain Female	brain
22	chr8:9791000-9791800	Bivalent/Poised TSS	A549	lung
23	chr8:9791200-9791400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
24	chr8:9791200-9791400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
25	chr8:9791200-9791400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr8:9791200-9791400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:9791200-9791400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:9791200-9791400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:9791200-9791400	Active TSS	Brain Germinal Matrix	brain
30	chr8:9791200-9791400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr8:9791200-9791400	Flanking Active TSS	Placenta	Placenta
32	chr8:9791200-9791400	Active TSS	Pancreas	Pancrea
33	chr8:9791200-9791600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr8:9791200-9791600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:9791200-9791600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:9791200-9791600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:9791200-9791600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:9791200-9791600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:9791200-9791600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr8:9791200-9791600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:9791200-9791600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
42	chr8:9791200-9791600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:9791200-9791600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:9791200-9791600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:9791200-9791600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:9791200-9791600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr8:9791200-9791600	Bivalent Enhancer	Liver	Liver
48	chr8:9791200-9791600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
49	chr8:9791200-9791600	Bivalent Enhancer	Esophagus	oesophagus
50	chr8:9791200-9791600	Bivalent Enhancer	Fetal Intestine Large	intestine

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