Variant report

Variant	rs4823038
Chromosome Location	chr22:29844314-29844315
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29843233..29845669-chr22:29847549..29849327,2	K562	blood:
2	chr22:29842498..29846304-chr22:29847549..29850894,5	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs105268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs165602	1.00[JPT][hapmap]
rs165607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs165624	1.00[JPT][hapmap]
rs165633	1.00[JPT][hapmap]
rs165649	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs165734	1.00[JPT][hapmap]
rs165821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs174649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs174718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs174722	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2008880	1.00[JPT][hapmap]
rs2857634	1.00[JPT][hapmap]
rs457930	1.00[JPT][hapmap]
rs465736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs467669	1.00[JPT][hapmap]
rs467768	1.00[JPT][hapmap]
rs4823046	1.00[JPT][hapmap]
rs5752916	1.00[CEU][hapmap]
rs5752917	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs5763238	0.81[EUR][1000 genomes]
rs5763247	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs5763315	1.00[JPT][hapmap]
rs5763347	1.00[JPT][hapmap]
rs5763348	1.00[JPT][hapmap]
rs737979	1.00[JPT][hapmap]
rs9306464	0.84[AMR][1000 genomes]
rs9613915	0.82[AMR][1000 genomes]
rs9613919	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	esv2209692	chr22:29844310-29844315	Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29831400-29849800	Weak transcription	Fetal Intestine Small	intestine
2	chr22:29834200-29850200	Weak transcription	Ovary	ovary
3	chr22:29836000-29859400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr22:29836200-29863200	Weak transcription	Fetal Brain Female	brain
5	chr22:29836600-29866000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr22:29840200-29845400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr22:29843800-29845400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:29844200-29856000	Weak transcription	Brain Angular Gyrus	brain

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