Variant report

Variant	rs1454620
Chromosome Location	chr8:126613560-126613561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126612687..126615177-chr8:126616929..126619166,2	MCF-7	breast:
2	chr8:126612725..126615017-chr8:126618565..126620143,2	MCF-7	breast:
3	chr8:126610481..126612816-chr8:126612922..126614971,2	MCF-7	breast:
4	chr8:126605005..126607033-chr8:126613419..126615572,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10086276	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10086636	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10094725	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10111011	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12334935	0.97[EUR][1000 genomes]
rs12386920	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12543922	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12546476	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12547829	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1454616	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1454619	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28393360	0.94[EUR][1000 genomes]
rs28550378	0.98[EUR][1000 genomes]
rs4870946	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871618	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871619	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871621	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6980895	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6981560	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986030	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986139	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6986305	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6996614	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6996809	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7001406	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7008590	0.98[EUR][1000 genomes]
rs7012744	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7012936	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs897158	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs897161	0.88[EUR][1000 genomes]
rs9297718	0.98[EUR][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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv38	chr8:126593465-126639253	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1015513	chr8:126602536-126618074	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126606600-126613800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:126606800-126613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:126606800-126614800	Weak transcription	Osteobl	bone
4	chr8:126607800-126614000	Weak transcription	Hela-S3	cervix
5	chr8:126607800-126614600	Weak transcription	A549	lung
6	chr8:126608400-126613600	Weak transcription	Pancreas	Pancrea
7	chr8:126608400-126618400	Weak transcription	Colonic Mucosa	Colon
8	chr8:126608600-126613600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr8:126608600-126619800	Weak transcription	Small Intestine	intestine
10	chr8:126608800-126617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:126609400-126613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:126609600-126619800	Weak transcription	Esophagus	oesophagus
13	chr8:126610800-126613600	Weak transcription	NHEK	skin
14	chr8:126611200-126614000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:126611800-126622600	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:126612200-126614800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:126612200-126625400	Enhancers	Primary B cells from cord blood	blood
18	chr8:126612800-126613800	Enhancers	GM12878-XiMat	blood
19	chr8:126612800-126614400	Enhancers	Spleen	Spleen
20	chr8:126612800-126615600	Weak transcription	Fetal Thymus	thymus
21	chr8:126613200-126614400	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr8:126613200-126621800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:126613400-126613800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:126613400-126614000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:126613400-126614800	Enhancers	Placenta	Placenta
26	chr8:126613400-126615000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr8:126613400-126615400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:126613400-126619000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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