Variant report

Variant	rs72916248
Chromosome Location	chr1:56802294-56802295
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs72912284	1.00[AMR][1000 genomes]
rs72912291	1.00[AMR][1000 genomes]
rs72912299	1.00[AMR][1000 genomes]
rs72914116	1.00[AMR][1000 genomes]
rs72916210	1.00[AMR][1000 genomes]
rs72916246	1.00[AMR][1000 genomes]
rs72916249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72916251	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72916272	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72918314	1.00[AMR][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	nsv1006422	chr1:56734772-56828606	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv534972	chr1:56734772-56828606	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1015037	chr1:56784322-56814739	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56787000-56805600	Weak transcription	Left Ventricle	heart
2	chr1:56791200-56820800	Weak transcription	Aorta	Aorta
3	chr1:56797200-56803000	Weak transcription	NHLF	lung
4	chr1:56797800-56805600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:56798200-56802400	Weak transcription	NHDF-Ad	bronchial
6	chr1:56798400-56807800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:56799200-56804200	Enhancers	Placenta	Placenta
8	chr1:56800000-56803600	Weak transcription	HepG2	liver
9	chr1:56800000-56805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:56800800-56802400	Enhancers	Psoas Muscle	Psoas
11	chr1:56801000-56803000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:56801800-56805000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:56801800-56805600	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:56801800-56805600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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Input of quick search could be:

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

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