Variant report

Variant	rs206967
Chromosome Location	chr12:120834432-120834433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2238160	0.85[CHB][hapmap]
rs34459753	0.82[EUR][1000 genomes]
rs7959801	0.85[CHB][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	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs206967	PXN	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120827200-120875200	Weak transcription	Right Atrium	heart
2	chr12:120827600-120835400	Weak transcription	Fetal Brain Female	brain
3	chr12:120829200-120836200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:120831000-120837800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:120832000-120835600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:120832800-120835200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:120832800-120835800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:120833000-120835000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:120833000-120835000	Weak transcription	Brain Germinal Matrix	brain
10	chr12:120833000-120835200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:120833000-120835400	Weak transcription	Fetal Brain Male	brain
12	chr12:120833000-120835600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:120833000-120839800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:120833000-120840200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:120833200-120835600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:120833200-120839600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:120833400-120835600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:120834000-120835400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:120834400-120837800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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

what's new

Quick links