Variant report

Variant	rs13279438
Chromosome Location	chr8:99743559-99743560
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99739291..99741165-chr8:99741627..99744092,2	MCF-7	breast:
2	chr8:99739438..99742023-chr8:99742698..99744611,2	MCF-7	breast:
3	chr8:99742630..99744951-chr8:99747576..99749535,2	MCF-7	breast:
4	chr8:99735526..99738976-chr8:99742014..99743636,3	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10447977	0.87[AMR][1000 genomes]
rs10755896	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10755897	0.81[AMR][1000 genomes]
rs10955189	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10955190	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11774463	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11778767	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11780292	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11780369	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11780500	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12114834	0.86[AMR][1000 genomes]
rs12541317	0.85[AMR][1000 genomes]
rs12542649	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12547297	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12549803	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12550783	0.81[AMR][1000 genomes]
rs12679268	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12679734	0.84[AMR][1000 genomes]
rs12680195	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12680602	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13269932	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13271844	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13275372	0.80[AMR][1000 genomes]
rs13275915	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1476181	0.87[AMR][1000 genomes]
rs2442012	0.91[AMR][1000 genomes]
rs2442014	0.91[AMR][1000 genomes]
rs2515214	0.88[AMR][1000 genomes]
rs2922075	0.86[AMR][1000 genomes]
rs2922078	0.86[AMR][1000 genomes]
rs2922081	0.86[AMR][1000 genomes]
rs2922082	0.83[AMR][1000 genomes]
rs3019293	0.86[AMR][1000 genomes]
rs34281206	0.87[AMR][1000 genomes]
rs34366206	0.80[AMR][1000 genomes]
rs34477118	0.89[AMR][1000 genomes]
rs34855977	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35536167	0.87[AMR][1000 genomes]
rs35798019	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs35804297	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4131873	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4255105	0.84[AMR][1000 genomes]
rs4279561	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4304299	0.91[AMR][1000 genomes]
rs4413739	0.90[AMR][1000 genomes]
rs4440607	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4509292	0.81[AMR][1000 genomes]
rs4517094	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4541872	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4549741	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4562286	0.90[AMR][1000 genomes]
rs4612309	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4734410	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4735570	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4735571	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4735574	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57034072	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58321500	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs58679407	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62532565	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62532577	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62532587	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62535381	0.80[AMR][1000 genomes]
rs62535382	0.81[AMR][1000 genomes]
rs62535408	0.83[AMR][1000 genomes]
rs62535410	0.89[AMR][1000 genomes]
rs62535412	0.91[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6992925	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7818010	0.80[EUR][1000 genomes]
rs7818828	0.81[AMR][1000 genomes]
rs7838239	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9656842	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891218	chr8:99507313-99906221	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1027025	chr8:99672977-100115315	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539690	chr8:99672977-100115315	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv891220	chr8:99681858-99867419	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	nsv1025685	chr8:99706280-99826236	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv539691	chr8:99706280-99826236	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99728200-99757200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr8:99736600-99746400	Weak transcription	K562	blood
3	chr8:99738400-99750000	Weak transcription	Fetal Intestine Small	intestine
4	chr8:99738400-99758000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:99739600-99745600	Weak transcription	Psoas Muscle	Psoas
6	chr8:99739600-99757200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:99739600-99776400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:99739800-99746200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:99739800-99757800	Weak transcription	NHEK	skin
10	chr8:99739800-99758000	Weak transcription	Ovary	ovary
11	chr8:99740000-99757200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr8:99741000-99747200	Weak transcription	NHDF-Ad	bronchial
13	chr8:99741200-99744600	Weak transcription	Liver	Liver
14	chr8:99741600-99794200	Weak transcription	Pancreas	Pancrea
15	chr8:99742400-99743600	Enhancers	Fetal Heart	heart
16	chr8:99743000-99743600	Enhancers	Adipose Nuclei	Adipose
17	chr8:99743000-99743600	Flanking Active TSS	GM12878-XiMat	blood
18	chr8:99743000-99744000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:99743200-99743600	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr8:99743200-99763400	Weak transcription	Right Ventricle	heart
21	chr8:99743400-99747800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr8:99743400-99777200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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