Variant report

Variant	rs17209619
Chromosome Location	chr5:8057974-8057975
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13166275	0.91[EUR][1000 genomes]
rs13167372	0.91[EUR][1000 genomes]
rs1377489	0.90[EUR][1000 genomes]
rs1563079	0.91[EUR][1000 genomes]
rs16879751	0.91[EUR][1000 genomes]
rs16879768	0.92[EUR][1000 genomes]
rs3752859	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1020991	chr5:8014412-8129558	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17209619	MTRR	Cis_1M	lymphoblastoid	RTeQTL
rs17209619	MTRR	cis	multi-tissue	Pritchard

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8047400-8058000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:8049600-8058200	Weak transcription	Fetal Brain Male	brain
3	chr5:8056400-8060800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr5:8056600-8059200	Enhancers	Ovary	ovary
5	chr5:8056800-8058000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:8056800-8058200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:8057600-8059000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:8057600-8059000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:8057600-8059400	Enhancers	Fetal Muscle Leg	muscle
10	chr5:8057800-8058000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr5:8057800-8058200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:8057800-8058200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr5:8057800-8058200	Enhancers	Fetal Lung	lung
14	chr5:8057800-8058400	Bivalent Enhancer	K562	blood
15	chr5:8057800-8059200	Enhancers	Fetal Muscle Trunk	muscle

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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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