Variant report

Variant	rs12866411
Chromosome Location	chr13:30268734-30268735
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30166226..30170537-chr13:30267927..30269941,4	MCF-7	breast:
2	chr13:30268179..30269731-chr13:30686906..30689381,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10220050	1.00[ASN][1000 genomes]
rs10220112	1.00[ASN][1000 genomes]
rs10492457	1.00[ASN][1000 genomes]
rs12853894	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12854608	0.85[EUR][1000 genomes]
rs12864282	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12865724	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868072	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12872620	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12872872	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12873674	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12877965	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13378487	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13378570	1.00[ASN][1000 genomes]
rs17587218	1.00[ASN][1000 genomes]
rs2036973	1.00[ASN][1000 genomes]
rs2669038	1.00[ASN][1000 genomes]
rs3011607	1.00[ASN][1000 genomes]
rs34117941	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34148142	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34220342	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34492142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34879256	0.85[AFR][1000 genomes]
rs34967062	1.00[ASN][1000 genomes]
rs34973257	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34978805	1.00[ASN][1000 genomes]
rs35033033	1.00[ASN][1000 genomes]
rs35227498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35566813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35569918	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35587642	0.92[AFR][1000 genomes]
rs35809262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35820783	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35901321	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs478085	1.00[ASN][1000 genomes]
rs555913	1.00[ASN][1000 genomes]
rs71427274	1.00[ASN][1000 genomes]
rs71427278	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427279	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427280	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71434735	1.00[ASN][1000 genomes]
rs71434744	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71434746	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71434747	1.00[AFR][1000 genomes]
rs7320198	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73454227	1.00[ASN][1000 genomes]
rs74042848	1.00[ASN][1000 genomes]
rs7986326	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7991247	1.00[ASW][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7991463	1.00[ASN][1000 genomes]
rs7992028	1.00[ASN][1000 genomes]
rs7992839	1.00[ASN][1000 genomes]
rs7998704	1.00[ASN][1000 genomes]
rs9314960	1.00[ASN][1000 genomes]
rs9314961	1.00[ASN][1000 genomes]
rs9314962	1.00[ASN][1000 genomes]
rs9314964	1.00[ASN][1000 genomes]
rs9314968	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9578108	1.00[ASN][1000 genomes]
rs9578110	1.00[ASN][1000 genomes]
rs9578112	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9578114	1.00[YRI][hapmap]
rs9578118	1.00[ASN][1000 genomes]
rs9578121	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9578122	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9578123	1.00[ASN][1000 genomes]
rs9578125	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9578127	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9578128	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9578130	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9578131	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9578133	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9578134	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579405	1.00[ASN][1000 genomes]
rs9579406	1.00[ASN][1000 genomes]
rs9579407	1.00[ASN][1000 genomes]
rs9579408	1.00[ASN][1000 genomes]
rs9579410	0.85[LWK][hapmap];1.00[ASN][1000 genomes]
rs9579411	1.00[ASN][1000 genomes]
rs9579413	1.00[ASN][1000 genomes]
rs9579414	1.00[ASN][1000 genomes]
rs9579417	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9579418	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9579419	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9579424	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9579425	1.00[ASN][1000 genomes]
rs9579428	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9579439	1.00[ASN][1000 genomes]
rs9579440	0.89[CEU][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs9579442	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579445	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579446	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579447	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579449	0.85[AFR][1000 genomes]
rs9579451	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579454	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579455	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579457	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579459	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579462	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579463	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579464	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579465	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579466	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579468	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579469	0.85[EUR][1000 genomes]
rs9579470	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579472	0.82[EUR][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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr13:30266200-30268800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:30268000-30269000	Weak transcription	Esophagus	oesophagus
3	chr13:30268200-30268800	Enhancers	NHEK	skin
4	chr13:30268200-30269400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr13:30268400-30271600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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