Variant report

Variant	rs34494076
Chromosome Location	chr13:49283031-49283032
allele	C/T
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]
rs12430959	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12869467	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12872853	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7330144	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7981283	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9568082	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9742182	0.83[EUR][1000 genomes];0.89[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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34494076	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49252000-49283600	Weak transcription	Primary T cells from cord blood	blood
2	chr13:49259000-49302200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:49264000-49283800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr13:49278600-49283800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr13:49279200-49284200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr13:49279600-49284600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr13:49281200-49283200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr13:49281200-49283400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr13:49281600-49284000	Strong transcription	Dnd41	blood
10	chr13:49281800-49283200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr13:49281800-49285800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr13:49282000-49284000	Weak transcription	Left Ventricle	heart
13	chr13:49282000-49284400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:49282400-49283200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:49282600-49283200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr13:49282600-49283400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr13:49282600-49284000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr13:49282800-49283200	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr13:49282800-49284000	Enhancers	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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