Variant report

Variant	rs12757847
Chromosome Location	chr1:173084377-173084378
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10798255	0.84[AMR][1000 genomes]
rs10798261	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11583787	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583801	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060864	0.89[AFR][1000 genomes]
rs12134570	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17372135	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs34032561	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6699806	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs720455	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs722541	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7515451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997331	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533953	chr1:172939335-173133255	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3441241	chr1:173083567-173085073	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
3	esv3320828	chr1:173083582-173085082	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
4	esv3320827	chr1:173083639-173084998	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
5	esv3320830	chr1:173083639-173084998	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
6	esv11499	chr1:173083744-173084952	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173081600-173091200	Weak transcription	NHDF-Ad	bronchial
2	chr1:173082400-173091200	Weak transcription	NHLF	lung
3	chr1:173082800-173086400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:173082800-173091000	Weak transcription	HSMM	muscle
5	chr1:173083600-173084400	Enhancers	Fetal Intestine Large	intestine
6	chr1:173083800-173086400	Weak transcription	Primary B cells from cord blood	blood
7	chr1:173083800-173086400	Weak transcription	HUVEC	blood vessel
8	chr1:173084000-173085800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:173084000-173085800	Weak transcription	Monocytes-CD14+_RO01746	blood

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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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