Variant report

Variant	rs12455630
Chromosome Location	chr18:8989714-8989715
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:8983237..8985130-chr18:8988547..8990547,2	K562	blood:
2	chr18:8974277..8977076-chr18:8989092..8991571,2	MCF-7	breast:
3	chr18:8979245..8982600-chr18:8987803..8990531,3	K562	blood:
4	chr18:8988621..8991582-chr18:9016532..9018302,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11081451	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11081452	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12456390	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17496003	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2036737	0.92[ASN][1000 genomes]
rs4798737	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs72942750	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8986200-8991200	Enhancers	K562	blood
2	chr18:8986800-8992600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr18:8987600-8990000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr18:8987800-8990200	Weak transcription	HSMMtube	muscle
5	chr18:8987800-8990400	Weak transcription	Pancreas	Pancrea
6	chr18:8988000-8989800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr18:8988000-8990400	Weak transcription	HSMM	muscle
8	chr18:8988200-8990600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr18:8988200-8991000	Weak transcription	Osteobl	bone
10	chr18:8988200-8991400	Enhancers	Liver	Liver
11	chr18:8988200-8994800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:8988400-8990000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr18:8988400-8990000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:8988400-8990000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr18:8988400-8990000	Weak transcription	NHDF-Ad	bronchial
16	chr18:8988400-8990400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr18:8988400-8990600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:8988400-8991000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:8988600-8990000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr18:8988600-8990200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr18:8988600-8990200	Enhancers	GM12878-XiMat	blood
22	chr18:8989200-8990800	Weak transcription	NH-A	brain
23	chr18:8989400-8990800	Enhancers	HMEC	breast
24	chr18:8989400-8991800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:8989600-8990000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr18:8989600-8990400	Weak transcription	A549	lung
27	chr18:8989600-8991400	Enhancers	Colon Smooth Muscle	Colon

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