Variant report

Variant	rs11111955
Chromosome Location	chr12:104650735-104650736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104647499..104652832-chr12:104679215..104682822,7	K562	blood:
2	chr12:104648960..104654527-chr12:104679132..104682678,7	MCF-7	breast:
3	chr12:104643341..104646270-chr12:104650257..104651835,2	MCF-7	breast:
4	chr12:104648718..104651563-chr12:104680805..104682351,2	K562	blood:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10400561	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10745994	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10745995	0.81[ASN][1000 genomes]
rs10745996	0.81[ASN][1000 genomes]
rs10778310	0.82[ASN][1000 genomes]
rs10778323	0.80[CEU][hapmap]
rs10861181	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10861204	0.81[CEU][hapmap]
rs11111943	0.95[ASN][1000 genomes]
rs12314235	0.98[AFR][1000 genomes]
rs17035324	0.87[ASN][1000 genomes]
rs4129598	0.87[ASN][1000 genomes]
rs4246264	0.87[CEU][hapmap];0.95[ASN][1000 genomes]
rs4246269	0.80[CEU][hapmap]
rs4246271	0.81[CEU][hapmap]
rs4388968	0.95[ASN][1000 genomes]
rs4406890	0.80[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4545635	0.86[CEU][hapmap];0.95[ASN][1000 genomes]
rs4964227	0.87[CEU][hapmap]
rs4964228	0.87[CEU][hapmap]
rs4964257	0.95[ASN][1000 genomes]
rs4964260	0.86[CEU][hapmap];0.95[ASN][1000 genomes]
rs4964267	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4964270	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964271	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4964627	0.81[CEU][hapmap]
rs4964728	0.80[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4964741	0.81[ASN][1000 genomes]
rs4964752	0.81[ASN][1000 genomes]
rs4964761	0.81[ASN][1000 genomes]
rs6419386	0.86[ASN][1000 genomes]
rs6539128	0.87[ASN][1000 genomes]
rs6539132	0.85[EUR][1000 genomes]
rs6539138	0.80[CEU][hapmap]
rs7132418	0.80[CEU][hapmap]
rs7138035	0.81[ASN][1000 genomes]
rs7138317	0.93[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7294997	0.84[CEU][hapmap];0.81[ASN][1000 genomes]
rs7295413	0.96[ASN][1000 genomes]
rs7297560	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7305872	0.89[ASN][1000 genomes]
rs7957725	0.81[CEU][hapmap]
rs7958851	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7960443	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7962423	0.80[CEU][hapmap]
rs7975161	0.80[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7978101	0.87[ASN][1000 genomes]
rs9739833	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr12:104649800-104657200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:104650400-104651400	Weak transcription	Stomach Mucosa	stomach
3	chr12:104650400-104651600	Weak transcription	Hela-S3	cervix
4	chr12:104650600-104651000	Flanking Active TSS	A549	lung

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