Variant report

Variant	rs67698519
Chromosome Location	chr8:125884635-125884636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125876735..125880494-chr8:125880552..125885100,4	K562	blood:
2	chr15:45899647..45900569-chr8:125884333..125885038,2	MCF-7	breast:
3	chr8:125882022..125884684-chr8:125903554..125905435,2	K562	blood:
4	chr8:125877925..125881102-chr8:125882727..125885100,3	K562	blood:
5	chr8:125882022..125884684-chr8:125903554..125906736,3	K562	blood:
6	chr8:125868740..125869654-chr8:125884258..125885154,2	MCF-7	breast:
7	chr8:125879365..125882872-chr8:125883741..125886693,4	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10109611	1.00[EUR][1000 genomes]
rs12549398	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13282814	1.00[EUR][1000 genomes]
rs28416206	1.00[EUR][1000 genomes]
rs28513518	1.00[EUR][1000 genomes]
rs28806495	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57912119	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59059860	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59234651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470298	1.00[EUR][1000 genomes]
rs6470300	1.00[EUR][1000 genomes]
rs6470302	0.90[EUR][1000 genomes]
rs6470303	1.00[EUR][1000 genomes]
rs6470305	1.00[EUR][1000 genomes]
rs6470306	0.85[EUR][1000 genomes]
rs6470307	1.00[EUR][1000 genomes]
rs6470308	1.00[EUR][1000 genomes]
rs6470311	1.00[EUR][1000 genomes]
rs67108254	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67153029	0.90[EUR][1000 genomes]
rs6989386	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996164	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7017632	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718730	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7387480	1.00[EUR][1000 genomes]
rs7387482	1.00[EUR][1000 genomes]
rs7461227	1.00[EUR][1000 genomes]
rs7461393	1.00[EUR][1000 genomes]
rs7462143	1.00[EUR][1000 genomes]
rs7462178	1.00[EUR][1000 genomes]
rs7463173	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7463222	1.00[EUR][1000 genomes]
rs7464577	1.00[EUR][1000 genomes]
rs7464782	1.00[EUR][1000 genomes]
rs7465413	1.00[EUR][1000 genomes]
rs7827416	0.90[EUR][1000 genomes]
rs9694845	1.00[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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 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	chr8:125871000-125885200	Weak transcription	Esophagus	oesophagus
2	chr8:125874400-125884800	Weak transcription	Right Atrium	heart
3	chr8:125880800-125885000	Weak transcription	Left Ventricle	heart
4	chr8:125882600-125886400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:125884400-125884800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:125884400-125884800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:125884400-125885000	Enhancers	HSMM	muscle
8	chr8:125884400-125885200	Enhancers	NHEK	skin
9	chr8:125884400-125885400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:125884400-125885400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:125884400-125885400	Flanking Active TSS	Osteobl	bone
12	chr8:125884400-125885600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:125884400-125885600	Enhancers	NHDF-Ad	bronchial
14	chr8:125884600-125884800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:125884600-125884800	Active TSS	Brain Germinal Matrix	brain
16	chr8:125884600-125885200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:125884600-125885200	Enhancers	Fetal Muscle Leg	muscle
18	chr8:125884600-125885200	Enhancers	HSMMtube	muscle
19	chr8:125884600-125885400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:125884600-125885400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr8:125884600-125885600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:125884600-125885600	Enhancers	NHLF	lung

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