Variant report

Variant	rs12078190
Chromosome Location	chr1:91024776-91024777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10801817	0.92[CEU][hapmap]
rs10922878	0.92[ASN][1000 genomes]
rs12078288	0.91[ASN][1000 genomes]
rs12083284	0.91[ASN][1000 genomes]
rs1336878	0.91[ASN][1000 genomes]
rs1336881	0.84[ASN][1000 genomes]
rs17131079	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs28488175	0.92[ASN][1000 genomes]
rs693260	0.83[ASN][1000 genomes]
rs699520	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs699521	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7411404	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999300	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870816	chr1:91018205-91141196	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12078190	BTBD8	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91023400-91024800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
2	chr1:91023600-91027200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
3	chr1:91023800-91024800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:91023800-91024800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:91024000-91024800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr1:91024000-91035600	Enhancers	Dnd41	blood
7	chr1:91024400-91029400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr1:91024600-91025000	Enhancers	Aorta	Aorta
9	chr1:91024600-91026000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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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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