Variant report

Variant	rs4315324
Chromosome Location	chr16:48665975-48665976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12918232	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2047601	1.00[CHB][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes]
rs2062553	0.85[CEU][hapmap]
rs2062554	0.89[CEU][hapmap]
rs2354580	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs3103015	0.85[ASW][hapmap]
rs3785138	1.00[CHB][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs3826176	1.00[CHB][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs4028695	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6500392	0.86[AMR][1000 genomes]
rs6500393	0.87[AMR][1000 genomes]
rs7206781	0.89[CEU][hapmap]
rs8046716	1.00[MEX][hapmap];0.85[AMR][1000 genomes]
rs8052026	0.85[CEU][hapmap]
rs8057605	0.86[AMR][1000 genomes]
rs8063059	0.85[CEU][hapmap]
rs9921402	0.85[CEU][hapmap]
rs9930255	0.80[AMR][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	esv3385210	chr16:48664601-48666699	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4315324	C16orf78	cis	cerebellum	SCAN
rs4315324	NKD1	cis	cerebellum	SCAN
rs4315324	NOD2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48658000-48667200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:48658000-48670400	Weak transcription	Pancreas	Pancrea
3	chr16:48662800-48667400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:48663000-48666400	Weak transcription	Fetal Intestine Small	intestine
5	chr16:48664000-48674000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr16:48664400-48666400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr16:48664600-48666200	Weak transcription	A549	lung
8	chr16:48664800-48666200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:48665800-48666000	Enhancers	HepG2	liver
10	chr16:48665800-48666600	Enhancers	Duodenum Mucosa	Duodenum
11	chr16:48665800-48666600	Enhancers	Fetal Intestine Large	intestine
12	chr16:48665800-48666800	Enhancers	Liver	Liver

Quick Search:

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

what's new

Quick links