Variant report

Variant	rs12944858
Chromosome Location	chr17:34067892-34067893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10068	0.86[CEU][hapmap]
rs11653310	0.86[CEU][hapmap]
rs17637907	0.86[CEU][hapmap]
rs2240902	0.84[CHB][hapmap]
rs225247	0.94[CEU][hapmap]
rs225251	0.86[CEU][hapmap]
rs225254	0.86[CEU][hapmap]
rs225262	0.86[CEU][hapmap]
rs225277	0.86[CEU][hapmap]
rs2840044	0.86[CEU][hapmap]
rs73990293	0.81[ASN][1000 genomes]
rs9900378	0.86[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12944858	TBC1D29	cis	cerebellum	SCAN
rs12944858	CCL14-CCL15	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:34059600-34068000	Weak transcription	Right Ventricle	heart
2	chr17:34060000-34068000	Weak transcription	Right Atrium	heart
3	chr17:34060400-34068000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr17:34062600-34068000	Weak transcription	Lung	lung
5	chr17:34067200-34069000	Enhancers	Spleen	Spleen
6	chr17:34067400-34068200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
7	chr17:34067400-34068400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:34067400-34068800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr17:34067600-34068000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:34067800-34068000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:34067800-34068000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:34067800-34068200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:34067800-34068200	Bivalent Enhancer	K562	blood

Quick Search:

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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