Variant report

Variant	rs1268234
Chromosome Location	chr19:39563157-39563158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs471217	1.00[AMR][1000 genomes]
rs479942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs514968	1.00[AMR][1000 genomes]
rs595610	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs691071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs691171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs691381	1.00[AMR][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	nsv458571	chr19:39533754-39628050	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv579508	chr19:39533754-39628050	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv522530	chr19:39552150-39573918	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr19:39545200-39564400	Weak transcription	Brain Substantia Nigra	brain
2	chr19:39557000-39564400	Weak transcription	Brain Hippocampus Middle	brain
3	chr19:39561800-39563800	Weak transcription	Osteobl	bone
4	chr19:39561800-39564000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr19:39562000-39563200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:39562000-39563200	Weak transcription	Placenta	Placenta
7	chr19:39562000-39563600	Weak transcription	A549	lung
8	chr19:39562000-39563800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:39562000-39563800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr19:39562000-39563800	Weak transcription	NHEK	skin
11	chr19:39562000-39564000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:39562000-39564000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:39562000-39564200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr19:39562000-39570000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr19:39562200-39563800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:39562400-39563800	Weak transcription	HMEC	breast
17	chr19:39562400-39564400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr19:39563000-39564400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr19:39563000-39565200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr19:39563000-39565600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr19:39563000-39565800	Enhancers	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links