Variant report

Variant	rs7533764
Chromosome Location	chr1:226812231-226812232
allele	G/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:11)

rs_ID	r²[population]
rs10495246	0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs1144838	0.81[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs1144839	0.81[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs1144840	0.81[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.84[EUR][1000 genomes]
rs1151804	0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs17522524	0.90[CHB][hapmap];0.85[JPT][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs17588687	0.80[CHB][hapmap]
rs3768376	0.80[CHB][hapmap]
rs3820635	0.80[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs3820637	0.80[CHB][hapmap]
rs697843	0.90[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470779	chr1:226778432-226833304	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7533764	NVL	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226806200-226825800	Weak transcription	Right Atrium	heart
2	chr1:226810600-226822600	Weak transcription	Gastric	stomach
3	chr1:226811200-226813600	Weak transcription	Right Ventricle	heart
4	chr1:226811600-226813400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:226811600-226814000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:226812000-226813400	Enhancers	HMEC	breast
7	chr1:226812000-226814000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:226812000-226814200	Enhancers	NHEK	skin
9	chr1:226812200-226812400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:226812200-226812400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:226812200-226812400	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:226812200-226812400	Enhancers	Brain Hippocampus Middle	brain
13	chr1:226812200-226812400	Enhancers	Fetal Muscle Leg	muscle
14	chr1:226812200-226812600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:226812200-226812600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:226812200-226814200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:226812200-226814200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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