Variant report

Variant	rs2075981
Chromosome Location	chr1:166925806-166925807
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11582566	0.89[TSI][hapmap];0.91[YRI][hapmap]
rs2013526	0.89[TSI][hapmap]
rs2014854	0.89[TSI][hapmap]
rs2072741	0.81[CEU][hapmap];0.86[LWK][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs2075982	0.81[CEU][hapmap];0.86[LWK][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs2312238	0.89[TSI][hapmap]
rs4657614	0.82[TSI][hapmap]
rs6690192	0.87[TSI][hapmap]
rs7552562	0.89[TSI][hapmap]
rs926266	0.86[CHB][hapmap];0.82[CHD][hapmap];0.89[TSI][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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2075981	TBX19	cis	cerebellum	SCAN
rs2075981	MAEL	cis	Nerve Tibial	GTEx
rs2075981	GPR161	cis	cerebellum	SCAN
rs2075981	ANKRD36BP1	cis	parietal	SCAN
rs2075981	MAEL	cis	Esophagus Muscularis	GTEx
rs2075981	MAEL	cis	parietal	SCAN
rs2075981	MAEL	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166919400-166936400	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:166919600-166929400	Weak transcription	Thymus	Thymus
3	chr1:166920000-166928200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:166921400-166927200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:166921400-166927600	Weak transcription	Brain Anterior Caudate	brain
6	chr1:166921600-166935800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:166922000-166933800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:166922200-166927800	Weak transcription	HSMMtube	muscle
9	chr1:166922400-166927600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:166922800-166930200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:166923000-166928600	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:166923200-166927000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:166923800-166926400	Strong transcription	Dnd41	blood
14	chr1:166924800-166926400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:166925000-166926800	Enhancers	Colon Smooth Muscle	Colon
16	chr1:166925400-166927200	Enhancers	GM12878-XiMat	blood
17	chr1:166925600-166926000	Enhancers	K562	blood
18	chr1:166925600-166926200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:166925800-166926600	Enhancers	hESC Derived CD56+ Mesoderm 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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