Variant report

Variant	rs2270214
Chromosome Location	chr7:140823118-140823119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10242365	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10252472	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10258028	0.80[AFR][1000 genomes]
rs10952447	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11979322	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17161916	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161924	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17161926	0.81[AMR][1000 genomes];0.92[EUR][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	esv3336433	chr7:140783089-140892541	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv971546	chr7:140806435-140830923	Weak transcription Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2270214	SVOPL	cis	cerebellum	SCAN
rs2270214	TAS2R3	cis	cerebellum	SCAN
rs2270214	MKRN1	cis	parietal	SCAN
rs2270214	TRIM24	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140816200-140823200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:140819200-140832400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:140819400-140832400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:140819400-140832400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:140821600-140823200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:140822200-140823400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:140822200-140823400	Enhancers	Pancreas	Pancrea
8	chr7:140822200-140823600	Enhancers	HSMMtube	muscle
9	chr7:140822400-140823200	Active TSS	Fetal Brain Male	brain
10	chr7:140822400-140825800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:140822400-140825800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:140822600-140823600	Enhancers	Fetal Lung	lung
13	chr7:140822600-140825800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:140822800-140823200	Enhancers	Brain Anterior Caudate	brain
15	chr7:140822800-140823400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:140822800-140823400	Enhancers	Brain Hippocampus Middle	brain
17	chr7:140822800-140823600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:140823000-140823200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr7:140823000-140823400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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