Variant report

Variant	rs10919000
Chromosome Location	chr1:168817001-168817002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10918996	0.91[JPT][hapmap]
rs16861623	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2092312	0.90[CHB][hapmap]
rs6670747	0.80[ASN][1000 genomes]
rs6683811	0.80[ASN][1000 genomes]
rs6695006	0.80[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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv464250	chr1:168772393-168826032	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv548145	chr1:168772393-168826032	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10919000	MAEL	cis	cerebellum	SCAN
rs10919000	POU2F1	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168812600-168817800	Weak transcription	Psoas Muscle	Psoas
2	chr1:168813000-168817800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:168815200-168818000	Weak transcription	Fetal Lung	lung
4	chr1:168815800-168817600	Weak transcription	Esophagus	oesophagus
5	chr1:168815800-168817600	Weak transcription	Gastric	stomach
6	chr1:168815800-168817600	Weak transcription	Left Ventricle	heart
7	chr1:168815800-168817600	Weak transcription	Lung	lung
8	chr1:168816000-168817200	Weak transcription	Fetal Heart	heart
9	chr1:168816000-168817400	Weak transcription	Stomach Mucosa	stomach
10	chr1:168817000-168817200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:168817000-168817400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:168817000-168818000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:168817000-168818600	Enhancers	Fetal Brain Male	brain

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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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