Variant report

Variant	rs5754733
Chromosome Location	chr22:34269594-34269595
allele	A/C
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	chr22:34269522-34269595	MCF-7	breast:	n/a	n/a
2	ZNF263	chr22:34269259-34270308	HEK293-T-REx	kidney:	n/a	chr22:34269754-34269763 chr22:34269875-34269884 chr22:34269748-34269757 chr22:34269861-34269882 chr22:34269751-34269760
3	POLR2A	chr22:34269577-34269656	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr22:34269402-34269603	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
LARGE	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1002047	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs1002048	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs17736366	0.89[CHB][hapmap]
rs2277840	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs5749683	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs5754730	0.92[ASN][1000 genomes]
rs5999125	0.89[CHB][hapmap]
rs715502	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs738967	0.94[CHB][hapmap];0.94[JPT][hapmap]
rs9621783	0.88[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv2763261	chr22:33831348-34288389	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1056553	chr22:34116979-34286191	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv914992	chr22:34135007-34283144	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5754733	C22orf30	cis	parietal	SCAN
rs5754733	YWHAH	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34256200-34269600	Enhancers	Fetal Heart	heart
2	chr22:34257200-34269600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr22:34257600-34269600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr22:34261800-34270400	Weak transcription	Liver	Liver
5	chr22:34263800-34269800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:34264000-34271200	Weak transcription	HSMM	muscle
7	chr22:34264800-34279400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:34265600-34271400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr22:34265800-34269600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:34266800-34270000	Enhancers	GM12878-XiMat	blood
11	chr22:34267600-34270600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:34267600-34271000	Enhancers	Primary B cells from peripheral blood	blood
13	chr22:34268000-34269800	Enhancers	Spleen	Spleen
14	chr22:34268000-34270000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr22:34268000-34270200	Enhancers	Gastric	stomach
16	chr22:34268000-34270400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:34268000-34270400	Enhancers	Lung	lung
18	chr22:34268000-34270600	Enhancers	Right Atrium	heart
19	chr22:34268000-34271400	Enhancers	Stomach Mucosa	stomach
20	chr22:34268000-34272600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr22:34268600-34270000	Enhancers	NHLF	lung
22	chr22:34268800-34270800	Enhancers	Duodenum Mucosa	Duodenum
23	chr22:34269000-34269800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:34269000-34269800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:34269000-34269800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr22:34269000-34269800	Enhancers	Adipose Nuclei	Adipose
27	chr22:34269000-34269800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr22:34269000-34269800	Enhancers	Fetal Brain Female	brain
29	chr22:34269000-34269800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr22:34269000-34269800	Enhancers	NHEK	skin
31	chr22:34269000-34270000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr22:34269000-34270000	Enhancers	NHDF-Ad	bronchial
33	chr22:34269000-34270200	Enhancers	Rectal Smooth Muscle	rectum
34	chr22:34269000-34270400	Enhancers	Fetal Muscle Trunk	muscle
35	chr22:34269000-34270600	Enhancers	Ovary	ovary
36	chr22:34269000-34270600	Enhancers	Stomach Smooth Muscle	stomach
37	chr22:34269000-34271000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr22:34269000-34271600	Enhancers	Colonic Mucosa	Colon
39	chr22:34269000-34271800	Enhancers	HSMMtube	muscle
40	chr22:34269000-34272000	Enhancers	Colon Smooth Muscle	Colon
41	chr22:34269000-34272000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr22:34269000-34272200	Enhancers	Fetal Lung	lung
43	chr22:34269000-34272200	Enhancers	Fetal Muscle Leg	muscle
44	chr22:34269000-34272400	Enhancers	Right Ventricle	heart
45	chr22:34269000-34273200	Enhancers	Brain Hippocampus Middle	brain
46	chr22:34269000-34273600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr22:34269200-34269600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr22:34269200-34269600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr22:34269200-34269600	Enhancers	Brain Germinal Matrix	brain
50	chr22:34269200-34269600	Enhancers	Fetal Stomach	stomach

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