Variant report

Variant	rs4841254
Chromosome Location	chr8:9791143-9791144
allele	A/G
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	E2F6	chr8:9791056-9791940	H1-hESC	embryonic stem cell:	n/a	chr8:9791254-9791263 chr8:9791251-9791263
2	RAD21	chr8:9791122-9791534	SK-N-SH_RA	brain:	n/a	n/a
3	MXI1	chr8:9790828-9791845	SK-N-SH	brain:	n/a	n/a
4	MAX	chr8:9791127-9791830	H1-hESC	embryonic stem cell:	n/a	chr8:9791262-9791272 chr8:9791255-9791265
5	SIN3A	chr8:9791122-9791628	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr8:9791109-9791669	H1-hESC	embryonic stem cell:	n/a	chr8:9791262-9791272 chr8:9791255-9791265
7	PBX3	chr8:9791052-9791398	SK-N-SH	brain:	n/a	chr8:9791281-9791301
8	GABPA	chr8:9791042-9791580	MCF-7	breast:	n/a	chr8:9791254-9791263 chr8:9791317-9791326
9	CTBP2	chr8:9791132-9791603	H1-hESC	embryonic stem cell:	n/a	n/a
10	CREB1	chr8:9791128-9791459	A549	lung:	n/a	n/a
11	NFYB	chr8:9791098-9791431	K562	blood:	n/a	n/a
12	GABPA	chr8:9791073-9791610	MCF-7	breast:	n/a	chr8:9791254-9791263 chr8:9791317-9791326
13	SP4	chr8:9791132-9791693	H1-hESC	embryonic stem cell:	n/a	chr8:9791252-9791268 chr8:9791250-9791266 chr8:9791252-9791263 chr8:9791239-9791250
14	SP1	chr8:9791046-9791513	H1-hESC	embryonic stem cell:	n/a	chr8:9791252-9791264 chr8:9791254-9791263 chr8:9791240-9791254 chr8:9791252-9791264 chr8:9791239-9791251 chr8:9791252-9791263 chr8:9791253-9791262 chr8:9791253-9791262 chr8:9791253-9791267 chr8:9791239-9791250
15	BACH1	chr8:9791141-9791420	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000238496	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2055729	1.00[CEU][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35649764	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs491364	0.88[CEU][hapmap]
rs506276	0.94[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs592420	0.88[CEU][hapmap]
rs9918834	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9788600-9791400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:9790000-9791200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:9790800-9791200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:9790800-9791200	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr8:9790800-9791600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:9790800-9791600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
7	chr8:9791000-9791200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr8:9791000-9791200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr8:9791000-9791200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:9791000-9791200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:9791000-9791200	Bivalent Enhancer	Fetal Lung	lung
12	chr8:9791000-9791400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr8:9791000-9791600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:9791000-9791600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr8:9791000-9791600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:9791000-9791600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:9791000-9791600	Active TSS	Brain Angular Gyrus	brain
18	chr8:9791000-9791600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
19	chr8:9791000-9791600	Flanking Active TSS	HMEC	breast
20	chr8:9791000-9791600	Active TSS	NHEK	skin
21	chr8:9791000-9791800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr8:9791000-9791800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr8:9791000-9791800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr8:9791000-9791800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr8:9791000-9791800	Active TSS	Brain Anterior Caudate	brain
26	chr8:9791000-9791800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
27	chr8:9791000-9791800	Active TSS	Brain Hippocampus Middle	brain
28	chr8:9791000-9791800	Enhancers	Fetal Brain Male	brain
29	chr8:9791000-9791800	Active TSS	Fetal Brain Female	brain
30	chr8:9791000-9791800	Bivalent/Poised TSS	A549	lung

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