Variant report

Variant	rs1523132
Chromosome Location	chr14:78768884-78768885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12588277	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903744	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8006086	0.89[ASW][hapmap];0.89[CHD][hapmap];0.91[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs8013312	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv832837	chr14:78766805-78946526	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1523132	TSHR	cis	parietal	SCAN
rs1523132	C14orf118	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78738600-78778200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:78738600-78779000	Weak transcription	Brain Angular Gyrus	brain
3	chr14:78750200-78778400	Weak transcription	Brain Anterior Caudate	brain
4	chr14:78764600-78769000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:78764600-78769000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr14:78764800-78769000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:78764800-78769000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:78765000-78769000	Weak transcription	Brain Germinal Matrix	brain
9	chr14:78765400-78771200	Weak transcription	Fetal Brain Male	brain
10	chr14:78767600-78769400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:78768200-78769200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:78768400-78769600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:78768800-78769000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:78768800-78769400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr14:78768800-78769400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr14:78768800-78769600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr14:78768800-78769600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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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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