Variant report

Variant	rs10861180
Chromosome Location	chr12:104650999-104651000
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: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10735392	0.82[JPT][hapmap]
rs10745993	0.81[ASN][1000 genomes]
rs10861169	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10861170	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10861179	0.84[AFR][1000 genomes]
rs10861181	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10861182	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11111960	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs17035324	0.90[JPT][hapmap]
rs4129598	0.90[JPT][hapmap]
rs4246264	0.90[JPT][hapmap]
rs4388968	0.88[JPT][hapmap]
rs4406890	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs4475991	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs4545635	0.90[JPT][hapmap]
rs4964260	0.90[JPT][hapmap]
rs4964267	0.88[ASN][1000 genomes]
rs4964728	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4964735	0.81[ASN][1000 genomes]
rs6539132	0.86[ASN][1000 genomes]
rs7137288	0.81[EUR][1000 genomes]
rs7137305	0.82[ASN][1000 genomes]
rs7297560	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7310505	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7313063	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7314893	0.94[CEU][hapmap];0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs7960443	0.88[ASN][1000 genomes]
rs7975161	0.90[JPT][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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