Variant report

Variant	rs1277190
Chromosome Location	chr6:24186590-24186591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1087292	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10946689	1.00[YRI][hapmap]
rs12211300	0.84[CEU][hapmap]
rs1832708	0.84[EUR][1000 genomes]
rs4582376	0.93[CEU][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs793850	0.89[AFR][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	nsv1029930	chr6:23481989-24289948	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv601146	chr6:24166233-24215665	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1277190	HIST1H2BO	cis	cerebellum	SCAN
rs1277190	KAAG1	cis	parietal	SCAN

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24153800-24200800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:24172800-24194800	Weak transcription	Fetal Intestine Large	intestine
3	chr6:24177800-24198400	Weak transcription	A549	lung
4	chr6:24181400-24189600	Strong transcription	HepG2	liver
5	chr6:24184200-24195200	Weak transcription	Pancreas	Pancrea
6	chr6:24184600-24195000	Weak transcription	Fetal Intestine Small	intestine
7	chr6:24185800-24186600	Strong transcription	Fetal Kidney	kidney
8	chr6:24186400-24187000	Enhancers	Fetal Brain Male	brain

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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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