Variant report

Variant	rs28500675
Chromosome Location	chr8:121278065-121278066
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121265001..121267292-chr8:121277170..121279502,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10090895	1.00[AMR][1000 genomes]
rs10093240	1.00[AMR][1000 genomes]
rs10093254	1.00[AMR][1000 genomes]
rs10096465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10101208	1.00[AMR][1000 genomes]
rs10103126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10108141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10108255	1.00[AMR][1000 genomes]
rs12334294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13439158	1.00[AMR][1000 genomes]
rs1989004	1.00[AMR][1000 genomes]
rs28382363	1.00[AMR][1000 genomes]
rs28488443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28591198	1.00[AMR][1000 genomes]
rs28669978	1.00[AMR][1000 genomes]
rs28728283	1.00[AMR][1000 genomes]
rs28801706	1.00[AMR][1000 genomes]
rs28848832	1.00[AMR][1000 genomes]
rs28892927	1.00[AMR][1000 genomes]
rs9297620	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv612112	chr8:121234298-121385167	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 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	chr8:121254600-121278400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:121254800-121278200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:121255400-121278400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr8:121262800-121283800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr8:121265800-121278600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:121267800-121283400	Weak transcription	Aorta	Aorta
7	chr8:121271200-121283600	Weak transcription	Fetal Intestine Large	intestine
8	chr8:121272600-121283800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:121273000-121281400	Weak transcription	Left Ventricle	heart
10	chr8:121273200-121279800	Weak transcription	Placenta	Placenta
11	chr8:121275600-121293400	Weak transcription	Fetal Stomach	stomach
12	chr8:121275800-121278200	Weak transcription	Fetal Kidney	kidney
13	chr8:121275800-121278200	Weak transcription	Psoas Muscle	Psoas
14	chr8:121275800-121282200	Weak transcription	Ovary	ovary
15	chr8:121275800-121283000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:121276000-121282400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:121276200-121278400	Weak transcription	Osteobl	bone
18	chr8:121276200-121284000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:121276600-121278400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:121276600-121280000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:121277400-121278400	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:121277400-121278400	Weak transcription	Fetal Lung	lung

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