Variant report

Variant	rs73880587
Chromosome Location	chr22:27972731-27972732
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	ZNF263	chr22:27972460-27972940	HEK293-T-REx	kidney:	n/a	chr22:27972550-27972559
2	POLR2A	chr22:27972729-27973104	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr22:27972570-27972887	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOXP2	chr22:27972322-27972771	PFSK-1	brain:	n/a	n/a
5	FOXP2	chr22:27972356-27972769	PFSK-1	brain:	n/a	n/a
6	CTCF	chr22:27972688-27972792	GM19239	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000224027	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12168428	1.00[AMR][1000 genomes]
rs4239927	1.00[AMR][1000 genomes]
rs73880588	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9620704	1.00[AMR][1000 genomes]
rs9625259	1.00[AMR][1000 genomes]
rs9625261	1.00[AMR][1000 genomes]
rs9625263	1.00[AMR][1000 genomes]
rs9625271	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	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
2	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
3	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
4	nsv834168	chr22:27859692-28061869	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv588877	chr22:27930080-28094845	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27967200-27973800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr22:27969800-27980800	Enhancers	Fetal Stomach	stomach
3	chr22:27970000-27973600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr22:27970000-27975800	Enhancers	Fetal Muscle Trunk	muscle
5	chr22:27970200-27979600	Weak transcription	Fetal Intestine Small	intestine
6	chr22:27970400-27973400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:27970400-27973400	Weak transcription	Fetal Thymus	thymus
8	chr22:27970600-27974000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr22:27971000-27980400	Enhancers	Fetal Muscle Leg	muscle
10	chr22:27971200-27973600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr22:27971600-27973000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr22:27971600-27973400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:27971600-27973600	Enhancers	Fetal Brain Male	brain
14	chr22:27971600-27974000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:27971600-27974000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr22:27971800-27973200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:27972200-27972800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
18	chr22:27972200-27972800	Enhancers	HMEC	breast
19	chr22:27972200-27973000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr22:27972200-27973000	Enhancers	Esophagus	oesophagus
21	chr22:27972200-27973800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:27972200-27973800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:27972200-27973800	Enhancers	Right Atrium	heart
24	chr22:27972200-27976000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr22:27972400-27972800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr22:27972400-27973000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:27972400-27973200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:27972400-27973800	Enhancers	Brain Germinal Matrix	brain
29	chr22:27972400-27973800	Enhancers	Ovary	ovary
30	chr22:27972400-27974000	Enhancers	HUVEC	blood vessel
31	chr22:27972400-27974000	Enhancers	NH-A	brain
32	chr22:27972400-27974200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr22:27972600-27972800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr22:27972600-27972800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
35	chr22:27972600-27972800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
36	chr22:27972600-27972800	Flanking Active TSS	Fetal Lung	lung
37	chr22:27972600-27972800	Enhancers	Right Ventricle	heart
38	chr22:27972600-27973000	Bivalent Enhancer	Fetal Heart	heart
39	chr22:27972600-27973000	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
40	chr22:27972600-27973200	Enhancers	Pancreas	Pancrea
41	chr22:27972600-27973400	Enhancers	Fetal Brain Female	brain
42	chr22:27972600-27973600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:27972600-27973600	Enhancers	Adipose Nuclei	Adipose
44	chr22:27972600-27973600	Enhancers	Spleen	Spleen
45	chr22:27972600-27973800	Enhancers	Fetal Intestine Large	intestine
46	chr22:27972600-27973800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr22:27972600-27974000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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