Variant report

Variant	rs7560608
Chromosome Location	chr2:38852258-38852259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000152147	Chromatin interaction
ENSG00000235586	Chromatin interaction
ENSG00000143889	Chromatin interaction
ENSG00000115875	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17023025	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17023028	0.90[EUR][1000 genomes]
rs2163556	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56131922	0.88[AFR][1000 genomes]
rs56768847	0.89[AFR][1000 genomes]
rs57241175	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57481292	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59962102	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61420714	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6760524	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72907944	0.94[AFR][1000 genomes]
rs73930142	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73931608	0.89[AFR][1000 genomes]
rs7586285	0.89[AFR][1000 genomes]
rs891707	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv581482	chr2:38799820-38858669	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv581483	chr2:38799820-38862223	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv581484	chr2:38799820-38874177	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv581485	chr2:38839323-38893660	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv3505628	chr2:38851120-38852365	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7560608	UBQLN1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:38835400-38862400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:38847400-38853400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:38848200-38854000	Weak transcription	Stomach Mucosa	stomach
4	chr2:38849800-38855400	Weak transcription	GM12878-XiMat	blood
5	chr2:38849800-38855600	Enhancers	Fetal Thymus	thymus
6	chr2:38850000-38854800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:38850400-38853000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:38850400-38853400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:38850400-38853400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:38851600-38852800	Enhancers	Fetal Intestine Large	intestine
11	chr2:38851800-38852600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:38851800-38852600	Enhancers	Fetal Intestine Small	intestine
13	chr2:38851800-38853200	Enhancers	Dnd41	blood
14	chr2:38851800-38853200	Enhancers	K562	blood
15	chr2:38851800-38853400	Enhancers	Thymus	Thymus
16	chr2:38852000-38852400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:38852000-38852600	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr2:38852200-38853800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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