Variant report

Variant	rs324645
Chromosome Location	chr7:136691764-136691765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs324635	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs324636	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs324637	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs324639	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs324640	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324642	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324643	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324649	1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.92[ASN][1000 genomes]
rs324650	0.92[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs420817	0.92[CEU][hapmap];0.88[GIH][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs421325	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6947206	0.86[MEX][hapmap]
rs7800170	0.86[MEX][hapmap]

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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831147	chr7:136583444-136755741	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs324645	PARP12	cis	parietal	SCAN
rs324645	SLC37A3	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136674800-136694200	Weak transcription	Left Ventricle	heart
2	chr7:136686200-136692200	Weak transcription	Ovary	ovary
3	chr7:136686400-136692000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:136687600-136694400	Enhancers	Fetal Heart	heart
5	chr7:136689200-136692200	Enhancers	Colon Smooth Muscle	Colon
6	chr7:136689800-136692000	Enhancers	Rectal Smooth Muscle	rectum
7	chr7:136690000-136692200	Enhancers	Stomach Smooth Muscle	stomach
8	chr7:136690400-136691800	Enhancers	Fetal Stomach	stomach
9	chr7:136690600-136692600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:136690600-136692600	Enhancers	NHLF	lung
11	chr7:136690800-136692000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:136691000-136692600	Enhancers	Osteobl	bone
13	chr7:136691000-136692800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:136691000-136692800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:136691400-136692600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:136691400-136692800	Enhancers	Pancreatic Islets	Pancreatic Islet

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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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