Variant report

Variant	rs61942784
Chromosome Location	chr12:48782691-48782692
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12580859	0.87[AFR][1000 genomes]
rs4397895	0.87[AFR][1000 genomes]
rs4485148	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4547144	0.87[AFR][1000 genomes]
rs55667337	0.87[AFR][1000 genomes]
rs56034252	0.87[AFR][1000 genomes]
rs56191575	0.87[AFR][1000 genomes]
rs59325389	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61940763	0.87[AFR][1000 genomes]
rs61940764	0.87[AFR][1000 genomes]
rs61940766	0.87[AFR][1000 genomes]
rs61940767	0.87[AFR][1000 genomes]
rs61940768	0.87[AFR][1000 genomes]
rs61940776	0.87[AFR][1000 genomes]
rs61942782	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61942783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61942785	0.87[AFR][1000 genomes]
rs61942830	0.87[AFR][1000 genomes]
rs61942831	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv975606	chr12:48748764-48784504	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48781400-48783200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:48781400-48783400	Enhancers	Colon Smooth Muscle	Colon
3	chr12:48781400-48784200	Enhancers	Hela-S3	cervix
4	chr12:48781800-48783400	Enhancers	HMEC	breast
5	chr12:48781800-48784200	Enhancers	Rectal Smooth Muscle	rectum
6	chr12:48781800-48784400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:48781800-48784600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:48782000-48782800	Weak transcription	Right Atrium	heart
9	chr12:48782200-48783200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:48782400-48783000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:48782400-48783600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:48782400-48783600	Enhancers	Osteobl	bone
13	chr12:48782400-48784200	Enhancers	NHDF-Ad	bronchial
14	chr12:48782600-48782800	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr12:48782600-48783200	Enhancers	NHEK	skin
16	chr12:48782600-48783600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:48782600-48784200	Enhancers	Left Ventricle	heart
18	chr12:48782600-48784200	Enhancers	Stomach Smooth Muscle	stomach
19	chr12:48782600-48784400	Enhancers	Adipose Nuclei	Adipose

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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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