Variant report

Variant	rs12283919
Chromosome Location	chr11:119864987-119864988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11217615	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11217618	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11822515	0.84[AMR][1000 genomes]
rs11822704	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11822761	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11824025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11825175	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12280147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293370	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35034058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59415047	0.91[AMR][1000 genomes]
rs60650014	0.91[AMR][1000 genomes]
rs7110709	0.84[AMR][1000 genomes]
rs7125377	0.84[AMR][1000 genomes]
rs7125520	0.91[AMR][1000 genomes]
rs7125556	0.84[AMR][1000 genomes]
rs7131561	0.91[AMR][1000 genomes]
rs7948649	0.91[AMR][1000 genomes]
rs895654	0.91[AMR][1000 genomes]
rs895655	0.91[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1037777	chr11:119842515-119898368	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv541179	chr11:119842515-119898368	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035918	chr11:119853069-119879255	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS 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	chr11:119859000-119867000	Enhancers	Brain Substantia Nigra	brain
2	chr11:119859000-119867600	Enhancers	Brain Hippocampus Middle	brain
3	chr11:119859000-119867600	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr11:119860800-119869400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr11:119861000-119866400	Enhancers	Esophagus	oesophagus
6	chr11:119862000-119865000	Enhancers	Fetal Muscle Leg	muscle
7	chr11:119862000-119871400	Weak transcription	Brain Germinal Matrix	brain
8	chr11:119863400-119865000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:119863600-119866600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:119863800-119865000	Enhancers	Fetal Intestine Large	intestine
11	chr11:119863800-119865200	Enhancers	Fetal Intestine Small	intestine
12	chr11:119864200-119867600	Enhancers	Brain Cingulate Gyrus	brain
13	chr11:119864400-119865000	Weak transcription	Brain Angular Gyrus	brain
14	chr11:119864400-119865000	Enhancers	Pancreas	Pancrea
15	chr11:119864400-119865200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:119864400-119865200	Enhancers	Brain Anterior Caudate	brain
17	chr11:119864600-119865000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:119864600-119865200	Enhancers	HMEC	breast
19	chr11:119864800-119865000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:119864800-119865200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
21	chr11:119864800-119871600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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