Variant report

Variant	rs28553511
Chromosome Location	chr8:51051168-51051169
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:51050537..51053146-chr8:51056966..51059260,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10100515	0.85[AMR][1000 genomes]
rs10107442	0.85[AMR][1000 genomes]
rs16914099	0.85[AMR][1000 genomes]
rs16914125	0.85[AMR][1000 genomes]
rs16914130	0.85[AMR][1000 genomes]
rs16914414	0.85[AMR][1000 genomes]
rs16914433	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28418948	0.85[AMR][1000 genomes]
rs28438566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28468445	0.85[AMR][1000 genomes]
rs28557047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28664922	1.00[AMR][1000 genomes]
rs28784070	1.00[AMR][1000 genomes]
rs55860714	0.82[AFR][1000 genomes]
rs56234780	0.85[AMR][1000 genomes]
rs59814912	0.85[AMR][1000 genomes]
rs61279830	0.85[AMR][1000 genomes]
rs73569349	0.85[AMR][1000 genomes]
rs73569350	0.85[AMR][1000 genomes]
rs73569361	0.85[AMR][1000 genomes]
rs73569366	0.85[AMR][1000 genomes]
rs73569372	0.85[AMR][1000 genomes]
rs73569374	0.85[AMR][1000 genomes]
rs73569385	0.85[AMR][1000 genomes]
rs73573585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73575355	1.00[AMR][1000 genomes]
rs73677826	0.85[AMR][1000 genomes]
rs73677828	0.85[AMR][1000 genomes]
rs7822276	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353749	chr8:50530807-51139242	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916392	chr8:50827638-51395140	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2759613	chr8:50873293-51137995	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv2758621	chr8:50886593-51137995	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv6184	chr8:50997525-51060432	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv539606	chr8:51006600-51057478	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv1829361	chr8:51021638-51101126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1027998	chr8:51032883-51084279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv539607	chr8:51032883-51084279	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:51047200-51051800	Weak transcription	Brain Germinal Matrix	brain
2	chr8:51047400-51051800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:51047600-51052400	Weak transcription	Fetal Brain Female	brain
4	chr8:51047800-51051800	Weak transcription	NH-A	brain
5	chr8:51047800-51052000	Weak transcription	Fetal Brain Male	brain
6	chr8:51047800-51052200	Weak transcription	Fetal Stomach	stomach
7	chr8:51047800-51052800	Weak transcription	Fetal Lung	lung
8	chr8:51048200-51051600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:51048200-51051600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:51048200-51051600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:51050400-51051800	Weak transcription	Osteobl	bone
12	chr8:51050400-51052000	Weak transcription	NHDF-Ad	bronchial
13	chr8:51050600-51051800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:51050600-51051800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:51050600-51051800	Weak transcription	NHLF	lung
16	chr8:51050600-51052800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:51050800-51051400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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