Variant report

Variant	rs12865724
Chromosome Location	chr13:30252645-30252646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:30251842..30253597-chr13:30255300..30256996,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10220050	1.00[ASN][1000 genomes]
rs10220112	1.00[ASN][1000 genomes]
rs10492457	1.00[ASN][1000 genomes]
rs12853894	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12854608	0.82[EUR][1000 genomes]
rs12864282	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12866411	0.86[CEU][hapmap];0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868072	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12872620	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12872872	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12873674	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12877965	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13378487	0.94[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	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34148142	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34220342	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34492142	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34967062	1.00[ASN][1000 genomes]
rs34973257	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34978805	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35033033	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs35227498	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35566813	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35569918	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35587642	0.92[AFR][1000 genomes]
rs35809262	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35820783	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35901321	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs478085	1.00[ASN][1000 genomes]
rs555913	1.00[ASN][1000 genomes]
rs71427274	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71427278	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427279	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427280	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71434735	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs71434744	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71434746	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71434747	0.85[AFR][1000 genomes]
rs7320198	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73454227	1.00[ASN][1000 genomes]
rs74042848	1.00[ASN][1000 genomes]
rs7986326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7991247	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7991463	0.85[AFR][1000 genomes];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	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9314968	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9578108	1.00[ASN][1000 genomes]
rs9578110	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9578112	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9578118	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9578121	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9578122	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9578123	1.00[ASN][1000 genomes]
rs9578125	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9578127	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9578128	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9578130	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9578131	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9578133	0.86[CEU][hapmap];0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9578134	0.94[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	1.00[ASN][1000 genomes]
rs9579411	1.00[ASN][1000 genomes]
rs9579413	1.00[ASN][1000 genomes]
rs9579414	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579417	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579418	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579419	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579424	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579425	1.00[ASN][1000 genomes]
rs9579428	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579439	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579440	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579442	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579445	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579446	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579447	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579449	1.00[AFR][1000 genomes]
rs9579451	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579454	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579455	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9579457	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579459	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579462	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579463	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579464	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579465	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579466	0.85[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579468	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9579469	0.82[EUR][1000 genomes]
rs9579470	0.84[EUR][1000 genomes];1.00[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	nsv510577	chr13:30213612-30254316	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30249800-30252800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:30250000-30256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:30251200-30252800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr13:30251400-30253000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:30251400-30255800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:30251600-30253600	Weak transcription	Spleen	Spleen
7	chr13:30251800-30252800	Enhancers	HMEC	breast
8	chr13:30251800-30253000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr13:30252000-30253600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:30252000-30253800	Enhancers	NHEK	skin
11	chr13:30252200-30252800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:30252200-30254000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr13:30252200-30255800	Weak transcription	NHDF-Ad	bronchial

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