Variant report

Variant	rs1385275
Chromosome Location	chr2:54553997-54553998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54552725..54555359-chr2:54555675..54557996,3	K562	blood:
2	chr2:54553431..54555359-chr2:54555675..54557996,2	K562	blood:
3	chr2:54531334..54533448-chr2:54553590..54555791,2	K562	blood:

Variant related genes	Relation type
ENSG00000177994	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13004355	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1385276	1.00[CEU][hapmap];0.90[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1682138	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1682139	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17268409	0.81[JPT][hapmap]
rs1727528	0.92[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1727530	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1727532	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2204628	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs698757	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs843622	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs843623	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs843624	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs843625	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs843626	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs843628	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs843631	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs843632	0.92[CHB][hapmap];0.80[JPT][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs843638	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs843639	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs843640	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs843641	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs844549	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs865231	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv532512	chr2:54453210-54630755	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1004632	chr2:54469283-54590480	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54551600-54557200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:54552000-54557200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:54552600-54556800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:54552800-54557000	Weak transcription	Aorta	Aorta
5	chr2:54553000-54556600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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