Variant report

Variant	rs9329059
Chromosome Location	chr5:178322489-178322490
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	CEBPB	chr5:178322401-178322967	H1-hESC	embryonic stem cell:	n/a	chr5:178322475-178322486
2	POLR2A	chr5:178322419-178323068	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:178322465-178323666	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr5:178322299-178322989	Hela-S3	cervix:	n/a	chr5:178322475-178322486
5	CEBPB	chr5:178322440-178322637	HepG2	liver:	n/a	chr5:178322475-178322486
6	HCFC1	chr5:178322372-178323291	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr5:178322365-178322694	MCF-7	breast:	n/a	chr5:178322475-178322486

No.	Distal block	Cell Line	Cell type
1	chr5:178285646..178289279-chr5:178321547..178324884,4	MCF-7	breast:
2	chr5:178311231..178313312-chr5:178319689..178322645,2	K562	blood:
3	chr5:178322017..178324460-chr5:178337015..178339677,2	MCF-7	breast:

Variant related genes	Relation type
ZFP2	TF binding region
ENSG00000213328	Chromatin interaction
ENSG00000206624	Chromatin interaction
ENSG00000178338	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10035887	0.86[EUR][1000 genomes]
rs10040956	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10067521	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1046726	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10479515	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10479516	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10516151	0.86[EUR][1000 genomes]
rs11249603	0.84[EUR][1000 genomes]
rs11743869	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11746382	0.83[EUR][1000 genomes]
rs11955586	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11960446	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13154558	0.86[EUR][1000 genomes]
rs1496950	0.86[EUR][1000 genomes]
rs1995079	0.86[EUR][1000 genomes]
rs4130052	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4700927	0.86[EUR][1000 genomes]
rs62393052	0.88[EUR][1000 genomes]
rs6600990	0.82[EUR][1000 genomes]
rs6866021	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6870709	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6872605	0.86[EUR][1000 genomes]
rs6872794	0.85[EUR][1000 genomes]
rs6873993	0.86[EUR][1000 genomes]
rs6885597	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7701607	0.86[EUR][1000 genomes]
rs7702579	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7702879	0.86[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	nsv883218	chr5:178219855-178349391	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178308400-178322600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:178313600-178322600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:178313600-178322800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:178314400-178325000	Weak transcription	Fetal Brain Male	brain
5	chr5:178315600-178322600	Weak transcription	Brain Angular Gyrus	brain
6	chr5:178317000-178322600	Weak transcription	Right Ventricle	heart
7	chr5:178317200-178322600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:178317200-178322600	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:178317200-178322600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:178317200-178322800	Weak transcription	Gastric	stomach
11	chr5:178317400-178322600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:178317400-178322600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:178317400-178322600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:178317400-178322600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:178317400-178322600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:178317400-178322600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:178317400-178322600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:178317400-178322600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:178317400-178322600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:178317400-178322600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:178317400-178322600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:178317400-178322600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:178317400-178322600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:178317400-178322600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:178317400-178322600	Weak transcription	Aorta	Aorta
26	chr5:178317400-178322600	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:178317400-178322600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:178317400-178322600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:178317400-178322600	Weak transcription	Fetal Lung	lung
30	chr5:178317400-178322600	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:178317400-178322600	Weak transcription	Fetal Stomach	stomach
32	chr5:178317400-178322600	Weak transcription	Left Ventricle	heart
33	chr5:178317400-178322600	Weak transcription	Pancreas	Pancrea
34	chr5:178317400-178322600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:178317400-178322600	Weak transcription	Spleen	Spleen
36	chr5:178317400-178322600	Weak transcription	HSMMtube	muscle
37	chr5:178317400-178322600	Weak transcription	HUVEC	blood vessel
38	chr5:178317400-178322600	Weak transcription	Osteobl	bone
39	chr5:178317400-178323200	Weak transcription	Fetal Heart	heart
40	chr5:178317600-178322600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:178317600-178322600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:178317600-178322600	Weak transcription	Fetal Kidney	kidney
43	chr5:178317600-178322600	Weak transcription	Ovary	ovary
44	chr5:178317600-178322600	Weak transcription	Dnd41	blood
45	chr5:178317600-178322600	Weak transcription	HSMM	muscle
46	chr5:178319800-178322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:178319800-178322600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:178321200-178322600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr5:178321800-178322600	Weak transcription	Adipose Nuclei	Adipose
50	chr5:178322400-178322600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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