Variant report

Variant	rs72943947
Chromosome Location	chr1:84848227-84848228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10082140	1.00[EUR][1000 genomes]
rs10082196	1.00[EUR][1000 genomes]
rs10874447	1.00[EUR][1000 genomes]
rs11164008	1.00[EUR][1000 genomes]
rs11808831	1.00[EUR][1000 genomes]
rs12057445	1.00[EUR][1000 genomes]
rs12063628	1.00[EUR][1000 genomes]
rs12063669	1.00[EUR][1000 genomes]
rs1515142	1.00[EUR][1000 genomes]
rs1533373	1.00[EUR][1000 genomes]
rs17131643	1.00[EUR][1000 genomes]
rs172736	1.00[EUR][1000 genomes]
rs312398	1.00[EUR][1000 genomes]
rs6671641	1.00[EUR][1000 genomes]
rs7413066	1.00[EUR][1000 genomes]
rs7529017	1.00[EUR][1000 genomes]
rs7533636	1.00[EUR][1000 genomes]
rs7546355	1.00[EUR][1000 genomes]
rs784834	1.00[EUR][1000 genomes]
rs9804106	1.00[EUR][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	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84844000-84853000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:84845400-84848600	Weak transcription	Hela-S3	cervix
3	chr1:84845600-84852400	Weak transcription	HMEC	breast
4	chr1:84845600-84857200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:84845800-84851600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:84845800-84851800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:84845800-84854800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:84846400-84856000	Weak transcription	NHLF	lung
9	chr1:84847400-84848600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:84847400-84848600	Enhancers	NHEK	skin
11	chr1:84847400-84848800	Enhancers	HUVEC	blood vessel
12	chr1:84847600-84848600	Enhancers	NH-A	brain
13	chr1:84848000-84848800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:84848200-84852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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