Variant report

Variant	rs12550614
Chromosome Location	chr8:9939031-9939032
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	chr8:9930550..9933030-chr8:9938731..9941412,2	K562	blood:
2	chr8:9909247..9912539-chr8:9937877..9939902,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260093	Chromatin interaction
ENSG00000175806	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11249968	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11249969	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11249970	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11779614	0.81[ASN][1000 genomes]
rs11785434	0.83[EUR][1000 genomes]
rs12155541	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12545826	0.94[ASN][1000 genomes]
rs12679328	0.83[ASN][1000 genomes]
rs13249013	0.80[EUR][1000 genomes]
rs13250499	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13261836	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13279619	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564808	0.83[EUR][1000 genomes]
rs2409632	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2628138	0.90[EUR][1000 genomes]
rs35349653	0.83[ASN][1000 genomes]
rs3735823	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4840462	0.83[ASN][1000 genomes]
rs4841277	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4841279	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs625218	0.81[ASN][1000 genomes]
rs685218	0.89[EUR][1000 genomes]
rs6981546	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6983566	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6997865	0.83[ASN][1000 genomes]
rs7012221	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7831989	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7832431	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs814421	0.81[ASN][1000 genomes]
rs814422	0.81[ASN][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	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv869934	chr8:9806639-9940586	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018236	chr8:9915428-9940481	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9913200-9944800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:9914800-9947200	Weak transcription	Left Ventricle	heart
3	chr8:9926400-9940400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:9929600-9947200	Weak transcription	Aorta	Aorta
5	chr8:9931200-9939600	Weak transcription	Primary T cells from cord blood	blood
6	chr8:9931200-9940200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:9934000-9939800	Weak transcription	Gastric	stomach
8	chr8:9934000-9940200	Weak transcription	Pancreas	Pancrea
9	chr8:9934400-9939800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:9936200-9944200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:9936600-9941600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:9938000-9939200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr8:9938600-9942000	Enhancers	Fetal Brain Male	brain
14	chr8:9938800-9944800	Weak transcription	Primary B cells from cord blood	blood
15	chr8:9939000-9939400	Weak transcription	Spleen	Spleen

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