Variant report

Variant	rs7968300
Chromosome Location	chr12:26090132-26090133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10842638	0.86[AFR][1000 genomes]
rs11525561	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2036096	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4963642	0.86[AFR][1000 genomes]
rs6487518	0.86[AFR][1000 genomes]
rs7953605	0.82[ASW][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];0.88[YRI][hapmap];0.86[AFR][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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1035319	chr12:26020667-26097148	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7968300	ITPR2	cis	parietal	SCAN
rs7968300	OVCH1	cis	parietal	SCAN
rs7968300	TMTC1	cis	parietal	SCAN
rs7968300	CCDC91	cis	cerebellum	SCAN
rs7968300	BHLHE41	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26085400-26110600	Weak transcription	Aorta	Aorta
2	chr12:26086800-26095000	Weak transcription	NHDF-Ad	bronchial
3	chr12:26086800-26110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:26088600-26090200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:26088600-26090600	Enhancers	Brain Anterior Caudate	brain
6	chr12:26088600-26091200	Enhancers	Fetal Kidney	kidney
7	chr12:26088800-26090200	Enhancers	Brain Substantia Nigra	brain
8	chr12:26089000-26090800	Enhancers	Brain Cingulate Gyrus	brain
9	chr12:26089200-26090200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr12:26089200-26090200	Enhancers	Ovary	ovary
11	chr12:26089200-26090400	Enhancers	Brain Hippocampus Middle	brain
12	chr12:26090000-26090800	Enhancers	Fetal Lung	lung

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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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