Variant report

Variant	rs61849053
Chromosome Location	chr1:211766541-211766542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs35258060	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6702177	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs676520	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7520829	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7528646	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs894856	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9430073	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9430075	0.93[EUR][1000 genomes];0.81[ASN][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	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211757400-211775200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:211762200-211766600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:211764600-211770600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:211764800-211768400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:211764800-211768600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:211766000-211766600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:211766000-211766600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:211766000-211766800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:211766000-211766800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:211766000-211767000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:211766000-211768600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:211766000-211769400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:211766000-211770400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:211766000-211772200	Weak transcription	Placenta	Placenta
15	chr1:211766200-211766800	Enhancers	Osteobl	bone
16	chr1:211766200-211770800	Weak transcription	NHLF	lung
17	chr1:211766400-211767600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:211766400-211770600	Weak transcription	NHDF-Ad	bronchial

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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