Variant report

Variant	rs12320276
Chromosome Location	chr12:120316509-120316510
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120311757..120313490-chr12:120315922..120318216,2	K562	blood:
2	chr12:120315180..120318058-chr12:120425281..120427733,2	K562	blood:
3	chr12:120313729..120318058-chr12:120425281..120428238,3	K562	blood:

Variant related genes	Relation type
ENSG00000135127	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11064946	1.00[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12164852	0.91[AMR][1000 genomes]
rs12303725	0.95[EUR][1000 genomes]
rs12303871	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307282	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310524	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312594	0.83[AMR][1000 genomes]
rs12313808	0.83[AMR][1000 genomes]
rs12316230	0.91[AMR][1000 genomes]
rs12317711	0.91[AMR][1000 genomes]
rs12319537	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319916	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13313223	0.90[EUR][1000 genomes]
rs280590	1.00[CEU][hapmap]
rs280591	1.00[CEU][hapmap]
rs55906258	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56233820	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56903823	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57243313	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57459050	0.94[EUR][1000 genomes]
rs57487797	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57626094	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57908788	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58111169	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58399872	0.91[AMR][1000 genomes]
rs58893111	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59347602	0.95[EUR][1000 genomes]
rs59442639	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60392056	0.84[EUR][1000 genomes]
rs60588068	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61507048	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7304029	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs73418594	0.90[EUR][1000 genomes]
rs73420604	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73420611	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73420615	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73420618	0.91[AMR][1000 genomes]
rs7967407	1.00[CEU][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455727	chr12:120259679-120420670	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv560397	chr12:120259679-120420670	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv510575	chr12:120303163-120437490	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120315600-120316800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:120315600-120317200	Weak transcription	Psoas Muscle	Psoas
3	chr12:120315600-120318000	Weak transcription	Right Atrium	heart
4	chr12:120315600-120320000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:120315600-120320000	Weak transcription	NHDF-Ad	bronchial
6	chr12:120316000-120330200	Weak transcription	A549	lung

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