Variant report

Variant	rs28591328
Chromosome Location	chr4:22518730-22518731
allele	A/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	POLR2A	chr4:22515695-22520041	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr4:22518449-22518753	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:22515612-22519946	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:22515945-22519288	H1-hESC	embryonic stem cell:	n/a	n/a
5	ZNF143	chr4:22518721-22518802	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr4:22518689-22518767	MCF10A-Er-Src	breast:	n/a	n/a
7	HEY1	chr4:22518703-22518934	HepG2	liver:	n/a	n/a
8	EBF1	chr4:22518705-22518797	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
GPR125	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10004678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10006549	1.00[EUR][1000 genomes]
rs10012247	1.00[EUR][1000 genomes]
rs10013414	1.00[EUR][1000 genomes]
rs10013902	1.00[EUR][1000 genomes]
rs10019604	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10021864	1.00[EUR][1000 genomes]
rs10029089	1.00[EUR][1000 genomes]
rs10029265	1.00[EUR][1000 genomes]
rs10938900	1.00[AMR][1000 genomes]
rs11944057	1.00[EUR][1000 genomes]
rs28414141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28426972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28490882	1.00[EUR][1000 genomes]
rs28501220	1.00[EUR][1000 genomes]
rs28518171	1.00[EUR][1000 genomes]
rs28521540	1.00[EUR][1000 genomes]
rs28542982	1.00[EUR][1000 genomes]
rs28645358	1.00[EUR][1000 genomes]
rs28660699	1.00[EUR][1000 genomes]
rs28698249	1.00[EUR][1000 genomes]
rs28703830	1.00[EUR][1000 genomes]
rs28775576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28787887	1.00[EUR][1000 genomes]
rs28798753	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28839846	1.00[EUR][1000 genomes]
rs28882371	1.00[EUR][1000 genomes]
rs34198330	1.00[EUR][1000 genomes]
rs56344126	1.00[EUR][1000 genomes]
rs59046669	1.00[EUR][1000 genomes]
rs59538021	1.00[EUR][1000 genomes]
rs6831214	1.00[EUR][1000 genomes]
rs6836362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6840912	1.00[EUR][1000 genomes]
rs6846776	1.00[EUR][1000 genomes]
rs73123531	1.00[EUR][1000 genomes]
rs73123532	1.00[EUR][1000 genomes]
rs73123536	1.00[EUR][1000 genomes]
rs7657782	1.00[EUR][1000 genomes]
rs9654097	1.00[EUR][1000 genomes]
rs980589	1.00[EUR][1000 genomes]
rs9992606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9993875	1.00[EUR][1000 genomes]
rs9995752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349061	chr4:22379581-22887563	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv821634	chr4:22427074-22865948	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3375345	chr4:22516479-22519027	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:22515800-22518800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr4:22517200-22519000	Active TSS	Primary hematopoietic stem cells	blood
3	chr4:22518000-22518800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr4:22518000-22519600	Weak transcription	Small Intestine	intestine
5	chr4:22518200-22518800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:22518200-22518800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:22518200-22518800	Active TSS	Fetal Muscle Trunk	muscle
8	chr4:22518200-22518800	Flanking Active TSS	Rectal Smooth Muscle	rectum
9	chr4:22518200-22519000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:22518400-22518800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr4:22518400-22518800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:22518400-22518800	Enhancers	Liver	Liver
13	chr4:22518400-22518800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr4:22518400-22518800	Enhancers	Fetal Muscle Leg	muscle
15	chr4:22518400-22518800	Enhancers	Psoas Muscle	Psoas
16	chr4:22518400-22518800	Enhancers	Right Ventricle	heart
17	chr4:22518400-22518800	Enhancers	A549	lung
18	chr4:22518400-22518800	Enhancers	HepG2	liver
19	chr4:22518400-22518800	Enhancers	HMEC	breast
20	chr4:22518400-22519000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr4:22518400-22519000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr4:22518400-22519000	Enhancers	Pancreas	Pancrea
23	chr4:22518600-22518800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr4:22518600-22518800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:22518600-22518800	Enhancers	Fetal Lung	lung
26	chr4:22518600-22518800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr4:22518600-22519000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr4:22518600-22519000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:22518600-22519000	Enhancers	Colon Smooth Muscle	Colon
30	chr4:22518600-22519000	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr4:22518600-22519800	Enhancers	Fetal Heart	heart
32	chr4:22518600-22523600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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