Variant report

Variant	rs56810274
Chromosome Location	chr8:125155043-125155044
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	chr8:125151766..125155460-chr8:125383526..125385815,4	MCF-7	breast:
2	chr8:125152052..125154141-chr8:125154514..125157013,2	K562	blood:

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction
ENSG00000250727	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10087218	1.00[AMR][1000 genomes]
rs10096401	1.00[AMR][1000 genomes]
rs10106517	1.00[AMR][1000 genomes]
rs10107906	1.00[AMR][1000 genomes]
rs10108094	1.00[AMR][1000 genomes]
rs10111932	1.00[AMR][1000 genomes]
rs28630423	1.00[AMR][1000 genomes]
rs28665503	1.00[AMR][1000 genomes]
rs56813553	1.00[AMR][1000 genomes]
rs57265559	1.00[AMR][1000 genomes]
rs57874567	1.00[AMR][1000 genomes]
rs58562578	1.00[AMR][1000 genomes]
rs59645347	1.00[AMR][1000 genomes]
rs60486597	1.00[AMR][1000 genomes]
rs60939722	1.00[AMR][1000 genomes]
rs6995628	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73330123	1.00[AMR][1000 genomes]
rs73330135	1.00[AMR][1000 genomes]
rs73330139	1.00[AMR][1000 genomes]
rs73330144	1.00[AMR][1000 genomes]
rs73330146	1.00[AMR][1000 genomes]
rs73330149	1.00[AMR][1000 genomes]
rs73330154	1.00[AMR][1000 genomes]
rs73330160	1.00[AMR][1000 genomes]
rs73330174	1.00[AMR][1000 genomes]
rs73330176	1.00[AMR][1000 genomes]
rs73330180	1.00[AMR][1000 genomes]
rs73330182	1.00[AMR][1000 genomes]
rs73703917	1.00[AMR][1000 genomes]
rs73703924	1.00[AMR][1000 genomes]
rs73703927	1.00[AMR][1000 genomes]
rs73703947	1.00[AMR][1000 genomes]
rs73703950	1.00[AMR][1000 genomes]
rs73703951	1.00[AMR][1000 genomes]
rs73703952	1.00[AMR][1000 genomes]
rs73703953	1.00[AMR][1000 genomes]
rs73703958	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73703966	0.92[AFR][1000 genomes]
rs73703973	0.88[AFR][1000 genomes]
rs7817061	1.00[AMR][1000 genomes]
rs7817244	1.00[AMR][1000 genomes]
rs7835106	1.00[AMR][1000 genomes]
rs7839666	1.00[AMR][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	nsv612144	chr8:125057728-125206503	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1023183	chr8:125060532-125206445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv948556	chr8:125067187-125204721	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125150400-125165600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:125151200-125157800	Weak transcription	Stomach Mucosa	stomach
3	chr8:125151200-125160000	Weak transcription	Fetal Intestine Small	intestine
4	chr8:125151400-125158000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr8:125151400-125159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:125151800-125157000	Weak transcription	Pancreas	Pancrea
7	chr8:125153800-125158800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:125154000-125155200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:125154000-125159200	Weak transcription	A549	lung
10	chr8:125154200-125155800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:125154200-125156600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:125154200-125157600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:125154200-125157600	Weak transcription	HUVEC	blood vessel
14	chr8:125154200-125159200	Weak transcription	NH-A	brain
15	chr8:125154200-125165600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:125154400-125157000	Weak transcription	Fetal Heart	heart
17	chr8:125154400-125159800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:125154600-125156000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:125154800-125156400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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