Variant report

Variant	rs509317
Chromosome Location	chr22:27620929-27620930
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	EP300	chr22:27620075-27621009	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr22:27620316-27621012	SK-N-SH	brain:	n/a	n/a
3	EP300	chr22:27620450-27620958	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr22:27620413-27620940	SK-N-SH	brain:	n/a	n/a
5	TCF12	chr22:27620294-27620960	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000233521	TF binding region

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs535842	0.89[CEU][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1064910	chr22:27609597-27648408	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27617000-27621000	Weak transcription	Fetal Intestine Large	intestine
2	chr22:27619200-27622800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr22:27619400-27621000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr22:27619400-27621200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr22:27619400-27621200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:27619600-27621000	Enhancers	HUVEC	blood vessel
7	chr22:27619600-27621200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:27619600-27621800	Enhancers	Fetal Stomach	stomach
9	chr22:27619800-27621000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr22:27619800-27621000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr22:27619800-27621000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr22:27619800-27621000	Enhancers	A549	lung
13	chr22:27619800-27621000	Flanking Active TSS	Osteobl	bone
14	chr22:27620000-27621000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:27620000-27621000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:27620000-27621000	Enhancers	Fetal Muscle Leg	muscle
17	chr22:27620000-27621000	Bivalent Enhancer	NHDF-Ad	bronchial
18	chr22:27620000-27621000	Enhancers	NHLF	lung
19	chr22:27620000-27621600	Enhancers	Adipose Nuclei	Adipose
20	chr22:27620200-27621000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
21	chr22:27620400-27621000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr22:27620400-27621000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr22:27620400-27621000	Bivalent Enhancer	Fetal Lung	lung
24	chr22:27620400-27621000	Flanking Active TSS	Ovary	ovary
25	chr22:27620600-27621000	Enhancers	Right Atrium	heart
26	chr22:27620600-27621200	Weak transcription	Colon Smooth Muscle	Colon
27	chr22:27620800-27621000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:27620800-27621000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr22:27620800-27621000	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr22:27620800-27621000	Flanking Active TSS	HSMM	muscle
31	chr22:27620800-27621000	Flanking Active TSS	NH-A	brain
32	chr22:27620800-27621200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr22:27620800-27621200	Flanking Active TSS	HSMMtube	muscle

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