Variant report

Variant	rs13432435
Chromosome Location	chr2:38860628-38860629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:38860089..38863428-chr2:38976891..38979875,4	K562	blood:
2	chr2:38853457..38857426-chr2:38859030..38862948,5	K562	blood:
3	chr2:38841845..38846119-chr2:38859783..38862280,3	K562	blood:
4	chr2:38841845..38843703-chr2:38858739..38861283,2	K562	blood:
5	chr2:38829210..38832278-chr2:38859055..38864456,6	K562	blood:
6	chr2:38826787..38832652-chr2:38859055..38867252,11	K562	blood:

Variant related genes	Relation type
ENSG00000235586	Chromatin interaction
ENSG00000152147	Chromatin interaction
ENSG00000115875	Chromatin interaction
ENSG00000143889	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10204680	0.87[EUR][1000 genomes]
rs13016885	0.85[EUR][1000 genomes]
rs13025153	0.85[EUR][1000 genomes]
rs13032371	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13393767	0.81[ASN][1000 genomes]
rs13412171	0.80[ASN][1000 genomes]
rs13415823	0.83[EUR][1000 genomes]
rs13432610	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17022996	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17023003	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2003209	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2099261	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2116383	0.85[EUR][1000 genomes]
rs2116385	0.85[EUR][1000 genomes]
rs2163551	0.85[EUR][1000 genomes]
rs2217537	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2373421	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34145681	0.87[EUR][1000 genomes]
rs34450185	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35273515	0.85[EUR][1000 genomes]
rs35613649	0.85[EUR][1000 genomes]
rs35861429	0.82[EUR][1000 genomes]
rs36057155	0.92[ASN][1000 genomes]
rs6544169	0.90[ASN][1000 genomes]
rs6721860	0.83[ASN][1000 genomes]
rs67326552	0.82[EUR][1000 genomes]
rs6733950	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6742843	0.85[EUR][1000 genomes]
rs6745646	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757844	0.87[ASN][1000 genomes]
rs67772386	0.86[ASN][1000 genomes]
rs72909831	0.85[EUR][1000 genomes]
rs7561778	0.81[EUR][1000 genomes]
rs7562949	0.81[ASN][1000 genomes]
rs7566698	0.81[ASN][1000 genomes]
rs7583318	0.83[EUR][1000 genomes]
rs7600802	0.81[EUR][1000 genomes]
rs7609065	0.95[ASN][1000 genomes]
rs891706	0.84[ASN][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	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
5	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
6	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
7	nsv873882	chr2:38858669-38921498	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers 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	7 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	chr2:38858000-38861000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:38860400-38860800	Weak transcription	GM12878-XiMat	blood

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