Variant report

Variant	rs32204
Chromosome Location	chr5:147162920-147162921
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1347149	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs1347150	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs17624756	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17703007	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2436427	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs28469761	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6873548	0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7735973	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9686888	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021356	chr5:147103627-147310531	Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1033907	chr5:147109014-147309076	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv537916	chr5:147109014-147309076	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs32204	JAKMIP2	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147162200-147165400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:147162400-147163000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:147162400-147163000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:147162400-147163000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:147162400-147163000	Enhancers	Fetal Thymus	thymus
6	chr5:147162400-147163200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:147162400-147164000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:147162400-147167000	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:147162600-147164000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:147162800-147163000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:147162800-147163000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr5:147162800-147163000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:147162800-147163000	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr5:147162800-147163000	Enhancers	Brain Cingulate Gyrus	brain
15	chr5:147162800-147163000	Enhancers	Brain Hippocampus Middle	brain
16	chr5:147162800-147163000	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr5:147162800-147163200	Enhancers	Brain Substantia Nigra	brain
18	chr5:147162800-147164000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:147162800-147164600	Enhancers	Fetal Lung	lung

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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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