Variant report

Variant	rs2599701
Chromosome Location	chr8:96091392-96091393
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	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175895	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11778995	0.94[ASN][1000 genomes]
rs11785698	0.94[ASN][1000 genomes]
rs1878736	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1996500	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2119588	0.87[EUR][1000 genomes]
rs2165496	0.87[EUR][1000 genomes]
rs2165497	0.87[EUR][1000 genomes]
rs2599702	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2599703	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2599704	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2599705	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2678825	0.82[EUR][1000 genomes]
rs2678826	0.82[EUR][1000 genomes]
rs2678839	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2678840	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28416970	0.95[ASN][1000 genomes]
rs2923814	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2945565	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2945566	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34824997	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4379417	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4641029	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6471509	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471510	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6471513	0.87[EUR][1000 genomes]
rs6471514	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6471515	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6980872	0.94[ASN][1000 genomes]
rs6982086	0.94[ASN][1000 genomes]
rs7002090	0.94[ASN][1000 genomes]
rs7011768	0.87[EUR][1000 genomes]
rs7011919	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs966459	0.87[EUR][1000 genomes]
rs9720421	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
5	esv3322914	chr8:96090176-96094674	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96080200-96101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:96085600-96098200	Weak transcription	Gastric	stomach
3	chr8:96086000-96092200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:96086000-96098200	Weak transcription	Thymus	Thymus
5	chr8:96088200-96098000	Weak transcription	Fetal Kidney	kidney
6	chr8:96088600-96093800	Weak transcription	A549	lung
7	chr8:96088600-96097600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr8:96088600-96098000	Weak transcription	K562	blood
9	chr8:96088800-96093600	Weak transcription	Fetal Intestine Small	intestine
10	chr8:96088800-96097000	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:96088800-96097600	Weak transcription	Placenta	Placenta
12	chr8:96088800-96098000	Weak transcription	HepG2	liver
13	chr8:96090600-96098200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:96091200-96094600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:96091200-96095600	Weak transcription	Primary B cells from cord blood	blood

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