Variant report

Variant	rs28604484
Chromosome Location	chr12:123856259-123856260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123854860..123857410-chr12:123868464..123870095,2	K562	blood:
2	chr12:123855413..123857446-chr12:123866791..123868451,2	K562	blood:
3	chr12:123855413..123857472-chr12:123866745..123868291,2	K562	blood:

Variant related genes	Relation type
ENSG00000183955	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10734902	0.82[ASN][1000 genomes]
rs10744152	0.85[ASN][1000 genomes]
rs10744153	0.85[ASN][1000 genomes]
rs10744154	0.85[ASN][1000 genomes]
rs10773018	0.84[ASN][1000 genomes]
rs10846517	0.85[ASN][1000 genomes]
rs10846519	0.85[ASN][1000 genomes]
rs10846523	0.85[ASN][1000 genomes]
rs11057283	0.85[ASN][1000 genomes]
rs11057287	0.85[ASN][1000 genomes]
rs11612234	0.85[ASN][1000 genomes]
rs11613711	0.82[ASN][1000 genomes]
rs28414347	0.83[ASN][1000 genomes]
rs28417583	0.83[ASN][1000 genomes]
rs28418709	0.85[ASN][1000 genomes]
rs28501453	0.83[ASN][1000 genomes]
rs28517382	0.85[ASN][1000 genomes]
rs28537583	0.83[ASN][1000 genomes]
rs28546238	0.83[ASN][1000 genomes]
rs28587386	0.83[ASN][1000 genomes]
rs28594416	0.85[ASN][1000 genomes]
rs28595660	0.83[ASN][1000 genomes]
rs28602967	0.83[ASN][1000 genomes]
rs28611282	0.83[ASN][1000 genomes]
rs28613486	0.83[ASN][1000 genomes]
rs28627651	0.84[ASN][1000 genomes]
rs28631903	0.85[ASN][1000 genomes]
rs28681105	0.83[ASN][1000 genomes]
rs28703745	0.84[ASN][1000 genomes]
rs28718696	0.84[ASN][1000 genomes]
rs28759130	0.85[ASN][1000 genomes]
rs28865692	0.83[ASN][1000 genomes]
rs28885203	0.83[ASN][1000 genomes]
rs3803001	0.83[ASN][1000 genomes]
rs3825141	0.85[ASN][1000 genomes]
rs4759374	0.83[ASN][1000 genomes]
rs4759376	0.85[ASN][1000 genomes]
rs4759421	0.85[ASN][1000 genomes]
rs57356592	0.83[ASN][1000 genomes]
rs57416942	0.85[ASN][1000 genomes]
rs58537268	0.83[ASN][1000 genomes]
rs58948739	0.83[ASN][1000 genomes]
rs59295450	0.85[ASN][1000 genomes]
rs60755632	0.83[ASN][1000 genomes]
rs61058270	0.83[ASN][1000 genomes]
rs61751327	0.85[ASN][1000 genomes]
rs6488869	0.85[ASN][1000 genomes]
rs6488870	0.85[ASN][1000 genomes]
rs6488871	0.85[ASN][1000 genomes]
rs6488872	0.85[ASN][1000 genomes]
rs7137243	0.85[ASN][1000 genomes]
rs7297649	0.85[ASN][1000 genomes]
rs7301163	0.85[ASN][1000 genomes]
rs7310756	0.85[ASN][1000 genomes]
rs7311304	0.85[ASN][1000 genomes]
rs7484644	0.85[ASN][1000 genomes]
rs7485967	0.85[ASN][1000 genomes]
rs7486223	0.85[ASN][1000 genomes]
rs7488340	0.85[ASN][1000 genomes]
rs7952835	0.85[ASN][1000 genomes]
rs7955367	0.85[ASN][1000 genomes]
rs7959415	0.85[ASN][1000 genomes]
rs7970080	0.85[ASN][1000 genomes]
rs7971557	0.83[ASN][1000 genomes]
rs7973131	0.85[ASN][1000 genomes]
rs7973878	0.85[ASN][1000 genomes]
rs7977563	0.85[ASN][1000 genomes]
rs9284166	0.85[ASN][1000 genomes]
rs9300256	0.82[ASN][1000 genomes]
rs9300257	0.85[ASN][1000 genomes]
rs9300259	0.84[ASN][1000 genomes]
rs9669169	0.85[ASN][1000 genomes]
rs9739565	0.85[ASN][1000 genomes]
rs9795593	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv899579	chr12:123843017-123901480	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123850600-123867200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:123850600-123867800	Weak transcription	Right Atrium	heart
3	chr12:123850800-123856800	Weak transcription	HepG2	liver
4	chr12:123854800-123857400	Weak transcription	K562	blood
5	chr12:123856000-123856800	Enhancers	A549	lung
6	chr12:123856200-123857000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr12:123856200-123858000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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