Variant report

Variant	rs597253
Chromosome Location	chr11:119939156-119939157
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	chr11:119934727..119936413-chr11:119938054..119939756,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10790363	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1790469	0.94[ASN][1000 genomes]
rs582545	0.89[ASN][1000 genomes]
rs591596	0.97[ASN][1000 genomes]
rs592565	0.97[ASN][1000 genomes]
rs593319	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs603179	0.83[ASN][1000 genomes]
rs625573	0.82[ASN][1000 genomes]
rs630332	0.83[ASN][1000 genomes]
rs635335	0.89[ASN][1000 genomes]
rs640663	0.97[ASN][1000 genomes]
rs643377	0.89[ASN][1000 genomes]
rs645233	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs651202	0.80[ASN][1000 genomes]
rs669812	0.86[ASN][1000 genomes]
rs681569	0.89[ASN][1000 genomes]
rs688857	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv508657	chr11:119891578-119971212	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119935200-119943000	Weak transcription	Brain Angular Gyrus	brain
2	chr11:119936600-119939200	Enhancers	GM12878-XiMat	blood
3	chr11:119937200-119939200	Enhancers	Fetal Brain Male	brain
4	chr11:119937800-119939200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr11:119937800-119939200	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr11:119938000-119940400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:119938400-119939600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:119938400-119939600	Enhancers	Fetal Stomach	stomach
9	chr11:119938400-119939800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:119938600-119939400	Enhancers	Placenta	Placenta
11	chr11:119938800-119939200	Enhancers	Fetal Lung	lung
12	chr11:119938800-119939200	Enhancers	HSMMtube	muscle
13	chr11:119938800-119939800	Weak transcription	Fetal Brain Female	brain
14	chr11:119938800-119951600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:119939000-119939200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:119939000-119939200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:119939000-119939200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:119939000-119939200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:119939000-119939200	Enhancers	Brain Hippocampus Middle	brain
20	chr11:119939000-119939200	Enhancers	HMEC	breast
21	chr11:119939000-119939400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:119939000-119939400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:119939000-119939400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:119939000-119939400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
25	chr11:119939000-119939400	Flanking Active TSS	Fetal Kidney	kidney
26	chr11:119939000-119939800	Enhancers	Primary hematopoietic stem cells	blood

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