Variant report

Variant	rs7302697
Chromosome Location	chr12:83507269-83507270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1356443	0.86[EUR][1000 genomes]
rs878113	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv559559	chr12:83505512-83765069	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7302697	TMTC2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83469000-83507600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:83492600-83507800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:83492600-83515800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:83496400-83509000	Weak transcription	Fetal Lung	lung
5	chr12:83498800-83507600	Weak transcription	Brain Anterior Caudate	brain
6	chr12:83499600-83507800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:83500000-83515200	Weak transcription	Brain Substantia Nigra	brain
8	chr12:83502400-83515600	Weak transcription	Fetal Stomach	stomach
9	chr12:83503600-83507800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:83503600-83515800	Weak transcription	Fetal Brain Male	brain
11	chr12:83506400-83507400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:83506600-83507400	Weak transcription	Brain Angular Gyrus	brain
13	chr12:83507200-83508000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:83507200-83508000	Enhancers	Brain Hippocampus Middle	brain
15	chr12:83507200-83508200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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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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