Variant report

Variant	rs73101794
Chromosome Location	chr5:60552065-60552066
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10051279	1.00[AMR][1000 genomes]
rs10054080	1.00[AMR][1000 genomes]
rs10055806	1.00[AMR][1000 genomes]
rs10057354	1.00[AMR][1000 genomes]
rs10073626	1.00[AMR][1000 genomes]
rs10073833	0.81[AFR][1000 genomes]
rs10079312	1.00[AMR][1000 genomes]
rs10471270	1.00[AMR][1000 genomes]
rs10471506	1.00[AMR][1000 genomes]
rs55772332	1.00[AMR][1000 genomes]
rs59299298	1.00[AMR][1000 genomes]
rs59481395	1.00[AMR][1000 genomes]
rs60201766	0.84[AFR][1000 genomes]
rs60636715	1.00[AMR][1000 genomes]
rs73101796	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73103607	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73103615	0.81[AFR][1000 genomes]
rs7443689	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 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	chr5:60541800-60552600	Weak transcription	A549	lung
2	chr5:60549000-60552400	Weak transcription	Esophagus	oesophagus
3	chr5:60549200-60553000	Enhancers	Stomach Mucosa	stomach
4	chr5:60550400-60552200	Weak transcription	Ovary	ovary
5	chr5:60550400-60552600	Enhancers	NHEK	skin
6	chr5:60550400-60573400	Weak transcription	Gastric	stomach
7	chr5:60550800-60552400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:60550800-60552400	Enhancers	HMEC	breast
9	chr5:60550800-60552600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr5:60551000-60552400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:60551000-60553000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr5:60551000-60553000	Enhancers	Hela-S3	cervix
13	chr5:60551000-60553400	Enhancers	Duodenum Mucosa	Duodenum
14	chr5:60551200-60552200	Weak transcription	Pancreas	Pancrea
15	chr5:60551400-60552400	Weak transcription	Fetal Intestine Large	intestine
16	chr5:60552000-60552800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:60552000-60553000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:60552000-60553000	Enhancers	Fetal Intestine Small	intestine
19	chr5:60552000-60553200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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