Variant report

Variant	rs11649692
Chromosome Location	chr16:52291004-52291005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12932031	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345311	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362377	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17269910	0.85[CEU][hapmap]
rs2540701	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35641724	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71388266	1.00[ASN][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	nsv492248	chr16:51681902-52456082	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv34024	chr16:51878565-52316530	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11649692	SLC8A1	trans	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:52280400-52301000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:52286800-52298400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr16:52286800-52299200	Weak transcription	Fetal Brain Male	brain
4	chr16:52287400-52295200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr16:52287600-52295400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr16:52289400-52291600	Enhancers	Fetal Intestine Small	intestine
7	chr16:52289600-52291200	Enhancers	Fetal Intestine Large	intestine
8	chr16:52289600-52292400	Enhancers	Stomach Mucosa	stomach
9	chr16:52290800-52291400	Enhancers	HepG2	liver
10	chr16:52290800-52291800	Enhancers	Duodenum Mucosa	Duodenum
11	chr16:52290800-52291800	Enhancers	Fetal Kidney	kidney
12	chr16:52290800-52291800	Enhancers	Small Intestine	intestine

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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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