Variant report

Variant	rs55773228
Chromosome Location	chr2:38858072-38858073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38856981..38859644-chr2:38870744..38873095,2	K562	blood:
2	chr2:38850084..38852366-chr2:38855789..38858760,2	K562	blood:
3	chr2:38857535..38860181-chr2:38880883..38883565,2	K562	blood:
4	chr2:38826731..38830931-chr2:38855127..38860520,4	MCF-7	breast:
5	chr2:38850355..38852366-chr2:38854447..38858679,3	K562	blood:

Variant related genes	Relation type
ENSG00000143889	Chromatin interaction
ENSG00000235586	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1543880	0.82[AFR][1000 genomes]
rs17022945	0.92[AFR][1000 genomes]
rs55820712	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55957936	0.80[AFR][1000 genomes]
rs56251362	0.80[AFR][1000 genomes]
rs58892329	0.87[AMR][1000 genomes]
rs59114683	0.82[AFR][1000 genomes]
rs59304482	0.87[AMR][1000 genomes]
rs60475078	0.82[AFR][1000 genomes]
rs6710613	0.83[AFR][1000 genomes]
rs6727765	0.80[AFR][1000 genomes]
rs6730806	0.87[AMR][1000 genomes]
rs6732384	0.85[AMR][1000 genomes]
rs72905837	0.82[AFR][1000 genomes]
rs72905843	0.82[AFR][1000 genomes]
rs72905844	0.82[AFR][1000 genomes]
rs72905847	0.82[AFR][1000 genomes]
rs72905860	0.80[AFR][1000 genomes]
rs72905861	0.80[AFR][1000 genomes]
rs72905868	0.80[AFR][1000 genomes]
rs72905869	0.80[AFR][1000 genomes]
rs72905871	0.80[AFR][1000 genomes]
rs72905880	0.92[AFR][1000 genomes]
rs72907906	0.81[AFR][1000 genomes]
rs72907929	0.83[AFR][1000 genomes]
rs73929050	0.82[AFR][1000 genomes]
rs73929059	0.85[AMR][1000 genomes]
rs73929087	0.83[AFR][1000 genomes]
rs73931606	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7579589	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7580657	0.83[AFR][1000 genomes]
rs7586241	0.87[AMR][1000 genomes]
rs7594264	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581482	chr2:38799820-38858669	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv581483	chr2:38799820-38862223	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv581484	chr2:38799820-38874177	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38835400-38862400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:38854000-38861200	Weak transcription	Primary T cells from cord blood	blood
3	chr2:38857400-38859000	Weak transcription	GM12878-XiMat	blood
4	chr2:38858000-38861000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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