Variant report

Variant	rs132348
Chromosome Location	chr22:29590222-29590223
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	GATA1	chr22:29589734-29590625	PBDE	blood:	n/a	n/a
2	POLR2A	chr22:29589893-29590306	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29588962..29590714-chr22:29595745..29598495,3	K562	blood:

Variant related genes	Relation type
RNU6-1219P	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs132308	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs132311	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs132312	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs132313	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs132314	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[EUR][1000 genomes]
rs132315	0.85[EUR][1000 genomes]
rs132316	0.85[EUR][1000 genomes]
rs132317	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs132321	0.85[EUR][1000 genomes]
rs132323	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs132341	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs132350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132351	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs132354	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs132363	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs132366	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs132367	1.00[CEU][hapmap];0.88[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs132369	0.93[GIH][hapmap]
rs132370	1.00[CEU][hapmap];0.88[TSI][hapmap];0.97[EUR][1000 genomes]
rs132372	0.95[GIH][hapmap]
rs132373	1.00[CEU][hapmap];0.95[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs132377	1.00[CEU][hapmap]
rs132378	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs132379	0.82[CEU][hapmap];0.92[GIH][hapmap];0.89[TSI][hapmap]
rs132380	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs132382	1.00[CEU][hapmap]
rs132386	1.00[CEU][hapmap]
rs4380342	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs469984	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs469985	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs713924	1.00[CEU][hapmap];0.88[CHB][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv3418371	chr22:29569447-29595319	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv914958	chr22:29586058-29620599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29572800-29591000	Weak transcription	Spleen	Spleen
2	chr22:29576400-29591000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr22:29576600-29590400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:29576600-29591200	Weak transcription	Fetal Intestine Small	intestine
5	chr22:29577600-29591200	Weak transcription	Dnd41	blood
6	chr22:29579200-29590600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:29580600-29591000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr22:29581200-29591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:29581600-29598400	Weak transcription	Fetal Brain Female	brain
10	chr22:29584600-29591600	Weak transcription	Fetal Muscle Leg	muscle
11	chr22:29584800-29591600	Weak transcription	Brain Germinal Matrix	brain
12	chr22:29588000-29598200	Weak transcription	Fetal Brain Male	brain
13	chr22:29589000-29591400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:29589200-29591200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:29589400-29591000	Weak transcription	K562	blood
16	chr22:29589400-29591400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:29589600-29597800	Weak transcription	Fetal Intestine Large	intestine

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