Variant report

Variant	rs12628113
Chromosome Location	chr22:29597341-29597342
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	ZNF263	chr22:29597153-29597817	HEK293-T-REx	kidney:	n/a	chr22:29597355-29597364
2	WRNIP1	chr22:29597295-29597790	GM12878	blood:	n/a	n/a
3	ZNF143	chr22:29597289-29597489	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:29597149-29601230	GM12878	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
EMID1	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10427585	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11090561	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12484227	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12484888	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484912	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12627935	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12628053	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12628212	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12628310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12628475	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16987237	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35405773	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55676901	0.94[EUR][1000 genomes]
rs56132535	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59125412	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60307207	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67133001	0.90[ASN][1000 genomes]
rs73399031	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73882489	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73882490	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73882499	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8138012	1.00[ASN][1000 genomes]
rs8141926	1.00[ASN][1000 genomes]
rs8142082	1.00[ASN][1000 genomes]
rs8142429	1.00[ASN][1000 genomes]
rs916341	1.00[ASN][1000 genomes]
rs916342	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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
4	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29581600-29598400	Weak transcription	Fetal Brain Female	brain
2	chr22:29588000-29598200	Weak transcription	Fetal Brain Male	brain
3	chr22:29589600-29597800	Weak transcription	Fetal Intestine Large	intestine
4	chr22:29592000-29597800	Weak transcription	Fetal Lung	lung
5	chr22:29592200-29598000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr22:29592400-29598000	Weak transcription	Left Ventricle	heart
7	chr22:29592400-29598200	Weak transcription	Lung	lung
8	chr22:29592600-29597600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:29593400-29597800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:29594000-29598000	Weak transcription	Small Intestine	intestine
11	chr22:29594800-29600800	Weak transcription	Pancreas	Pancrea
12	chr22:29595400-29597600	Enhancers	GM12878-XiMat	blood
13	chr22:29595600-29597600	Genic enhancers	Dnd41	blood
14	chr22:29596400-29601600	Enhancers	Spleen	Spleen
15	chr22:29597000-29598800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr22:29597000-29601000	Enhancers	Primary hematopoietic stem cells	blood
17	chr22:29597000-29601400	Enhancers	Fetal Thymus	thymus
18	chr22:29597200-29597400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr22:29597200-29598000	Enhancers	K562	blood
20	chr22:29597200-29598800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:29597200-29599200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:29597200-29599600	Enhancers	Fetal Intestine Small	intestine

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