Variant report

Variant	rs11816338
Chromosome Location	chr10:45376120-45376121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11239300	1.00[EUR][1000 genomes]
rs11815349	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12249378	1.00[EUR][1000 genomes]
rs12250724	1.00[EUR][1000 genomes]
rs12251910	1.00[EUR][1000 genomes]
rs56413731	1.00[EUR][1000 genomes]
rs57792208	1.00[EUR][1000 genomes]
rs7085359	1.00[EUR][1000 genomes]
rs7095998	1.00[EUR][1000 genomes]
rs73275092	1.00[EUR][1000 genomes]
rs73287594	1.00[EUR][1000 genomes]
rs74128124	1.00[EUR][1000 genomes]
rs7899617	1.00[EUR][1000 genomes]
rs7900196	1.00[EUR][1000 genomes]
rs7903078	1.00[EUR][1000 genomes]
rs7903359	1.00[EUR][1000 genomes]
rs7924266	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv517161	chr10:45210690-45416256	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1050496	chr10:45227530-45382154	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831844	chr10:45228791-45407762	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11816338	TPBG	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45374200-45376200	Enhancers	Spleen	Spleen
2	chr10:45374800-45379200	Enhancers	Pancreas	Pancrea
3	chr10:45374800-45381600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr10:45375000-45378200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr10:45375200-45376200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:45375200-45376200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr10:45375200-45377000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:45375200-45377000	Weak transcription	Fetal Thymus	thymus
9	chr10:45375200-45377200	Weak transcription	Left Ventricle	heart
10	chr10:45375200-45378800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:45375200-45398600	Weak transcription	Right Atrium	heart
12	chr10:45375400-45376200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:45375400-45376800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:45375400-45377000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr10:45375400-45377200	Weak transcription	Fetal Heart	heart
16	chr10:45375400-45377400	Weak transcription	Right Ventricle	heart
17	chr10:45375800-45384200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:45376000-45376800	Weak transcription	Brain Cingulate Gyrus	brain

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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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