Variant report

Variant	rs59614553
Chromosome Location	chr22:27536125-27536126
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	EP300	chr22:27535996-27536482	SK-N-SH_RA	brain:	n/a	n/a
2	MAX	chr22:27535961-27536668	A549	lung:	n/a	n/a
3	TCF12	chr22:27535845-27536637	A549	lung:	n/a	chr22:27535887-27535895 chr22:27536123-27536133
4	POLR2A	chr22:27536077-27536540	U87	brain:	n/a	n/a
5	GATA3	chr22:27535913-27536752	A549	lung:	n/a	n/a
6	CEBPB	chr22:27536090-27536623	A549	lung:	n/a	n/a
7	FOSL2	chr22:27535969-27536589	A549	lung:	n/a	chr22:27535998-27536009
8	CTCF	chr22:27536080-27536230	AG04449	skin:	n/a	n/a
9	PBX3	chr22:27536076-27536505	SK-N-SH	brain:	n/a	n/a
10	CEBPB	chr22:27536023-27536527	IMR90	lung:	n/a	n/a
11	FOS	chr22:27536043-27536567	HUVEC	blood vessel:	n/a	chr22:27536359-27536370
12	CTCF	chr22:27536000-27536150	HCPEpiC	choroid plexus:	n/a	n/a
13	JUND	chr22:27536120-27536523	A549	lung:	n/a	n/a
14	POLR2A	chr22:27536123-27536529	U87	brain:	n/a	n/a
15	FOS	chr22:27535972-27536536	MCF10A-Er-Src	breast:	n/a	chr22:27535998-27536009 chr22:27536359-27536370
16	MAFK	chr22:27536008-27536439	IMR90	lung:	n/a	chr22:27536008-27536018
17	GATA2	chr22:27535971-27536463	SH-SY5Y	brain:	n/a	n/a
18	MAX	chr22:27536068-27536535	A549	lung:	n/a	n/a
19	SP1	chr22:27535937-27536632	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000231405	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16983795	1.00[AMR][1000 genomes]
rs60369374	1.00[AMR][1000 genomes]
rs61121089	1.00[ASN][1000 genomes]
rs61564378	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917333	chr22:26931825-27692024	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	142 gene(s)	inside rSNPs	diseases
2	esv34168	chr22:27289097-27678031	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27533600-27537400	Enhancers	Brain Germinal Matrix	brain
2	chr22:27534400-27537000	Weak transcription	Fetal Brain Female	brain
3	chr22:27534600-27537200	Enhancers	NH-A	brain
4	chr22:27534800-27536200	Weak transcription	Fetal Brain Male	brain
5	chr22:27535200-27536800	Enhancers	HUVEC	blood vessel
6	chr22:27535200-27537200	Enhancers	Osteobl	bone
7	chr22:27535400-27536400	Bivalent Enhancer	Fetal Heart	heart
8	chr22:27535400-27536800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr22:27535600-27536200	Enhancers	Aorta	Aorta
10	chr22:27535600-27536600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr22:27535600-27536800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr22:27535600-27538600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr22:27535800-27536200	Flanking Active TSS	A549	lung
14	chr22:27535800-27536200	Enhancers	HSMM	muscle
15	chr22:27535800-27536400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr22:27535800-27536400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr22:27535800-27536400	Bivalent Enhancer	Fetal Stomach	stomach
18	chr22:27535800-27536600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:27535800-27536600	Enhancers	Colon Smooth Muscle	Colon
20	chr22:27535800-27536600	Enhancers	NHLF	lung
21	chr22:27535800-27536800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:27535800-27537000	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr22:27536000-27536200	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr22:27536000-27536400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:27536000-27536400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:27536000-27536400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:27536000-27536400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr22:27536000-27536400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:27536000-27536400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:27536000-27536400	Enhancers	Ovary	ovary
31	chr22:27536000-27536400	Enhancers	Right Atrium	heart
32	chr22:27536000-27536600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr22:27536000-27536600	Enhancers	HSMMtube	muscle
34	chr22:27536000-27537000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:27536000-27537000	Bivalent Enhancer	NHDF-Ad	bronchial

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