Variant report

Variant	rs480456
Chromosome Location	chr6:147847523-147847524
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs471833	0.81[JPT][hapmap]
rs494234	0.83[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs536996	0.81[JPT][hapmap];0.81[TSI][hapmap]
rs537817	0.81[JPT][hapmap]
rs618181	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs634979	0.83[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs636447	0.83[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs648995	0.94[ASW][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.87[MEX][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs650375	0.83[CHD][hapmap];0.82[ASN][1000 genomes]
rs655698	0.81[JPT][hapmap]
rs685322	0.83[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	nsv604841	chr6:147832156-148193929	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1020247	chr6:147834097-148478053	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs480456	ULBP2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147831600-147852000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:147832400-147851200	Weak transcription	Fetal Stomach	stomach
3	chr6:147832400-147851800	Weak transcription	Fetal Kidney	kidney
4	chr6:147832600-147851200	Weak transcription	Fetal Lung	lung
5	chr6:147835400-147848200	Weak transcription	Fetal Intestine Small	intestine
6	chr6:147837400-147856400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:147838800-147851400	Weak transcription	Fetal Intestine Large	intestine
8	chr6:147844000-147851400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:147844800-147851200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr6:147845600-147849200	Weak transcription	HSMMtube	muscle
11	chr6:147845800-147850200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:147846400-147847600	Strong transcription	HSMM	muscle
13	chr6:147846400-147851400	Weak transcription	Placenta	Placenta
14	chr6:147846600-147851600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:147847000-147851400	Enhancers	Liver	Liver
16	chr6:147847000-147851400	Weak transcription	Gastric	stomach
17	chr6:147847000-147851400	Weak transcription	HUVEC	blood vessel

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