Variant report

Variant	rs1438354
Chromosome Location	chr8:105672087-105672088
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	chr8:105665119..105666713-chr8:105669942..105672680,2	K562	blood:
2	chr8:105671044..105673505-chr8:105675145..105677961,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10429349	1.00[AMR][1000 genomes]
rs11985102	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985107	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11985915	1.00[AMR][1000 genomes]
rs11988545	1.00[AMR][1000 genomes]
rs11988673	1.00[AMR][1000 genomes]
rs11988817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11992187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11992473	1.00[AMR][1000 genomes]
rs11993150	1.00[AMR][1000 genomes]
rs11995366	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11996875	1.00[AMR][1000 genomes]
rs11997098	1.00[AMR][1000 genomes]
rs11998493	1.00[AMR][1000 genomes]
rs12114034	1.00[AMR][1000 genomes]
rs12114649	1.00[AMR][1000 genomes]
rs28491098	1.00[AMR][1000 genomes]
rs35172462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4562284	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv2422460	chr8:105573376-105746329	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1032476	chr8:105609904-106030916	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539710	chr8:105609904-106030916	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105667800-105674200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:105667800-105674400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:105668000-105674400	Weak transcription	HMEC	breast
4	chr8:105668000-105674600	Weak transcription	NHEK	skin
5	chr8:105670400-105673800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:105670600-105672200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:105670800-105675400	Enhancers	NHDF-Ad	bronchial
8	chr8:105671000-105672400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:105671000-105672600	Enhancers	Osteobl	bone
10	chr8:105671200-105672600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:105671200-105672600	Enhancers	HSMM	muscle
12	chr8:105671200-105672800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:105671400-105672200	Enhancers	NHLF	lung
14	chr8:105671400-105672400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:105671800-105674400	Weak transcription	K562	blood
16	chr8:105671800-105677600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:105672000-105672400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:105672000-105674400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:105672000-105676400	Weak transcription	NH-A	brain
20	chr8:105672000-105677200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr8:105672000-105677200	Weak transcription	HSMMtube	muscle

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