Variant report

Variant	rs7976110
Chromosome Location	chr12:124249818-124249819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1050443	1.00[JPT][hapmap]
rs1050448	1.00[JPT][hapmap]
rs10744160	0.81[MEX][hapmap]
rs10744162	1.00[JPT][hapmap]
rs10773034	1.00[JPT][hapmap]
rs11612927	1.00[JPT][hapmap]
rs12809853	1.00[JPT][hapmap]
rs15587	1.00[JPT][hapmap]
rs2333834	0.85[AFR][1000 genomes]
rs3204541	1.00[JPT][hapmap]
rs4930737	1.00[JPT][hapmap]
rs6488904	0.86[AMR][1000 genomes]
rs67399282	0.90[AMR][1000 genomes]
rs7135874	0.90[AMR][1000 genomes]
rs7397745	0.81[MEX][hapmap]
rs7974279	1.00[JPT][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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7976110	DYNLL1	cis	parietal	SCAN
rs7976110	ATP6V0A2	cis	parietal	SCAN
rs7976110	DDX55	cis	multi-tissue	Pritchard
rs7976110	EIF2B1	cis	cerebellum	SCAN
rs7976110	DDX55	cis	parietal	SCAN
rs7976110	TCTN2	cis	parietal	SCAN
rs7976110	ANAPC5	cis	parietal	SCAN
rs7976110	TCTN2	cis	cerebellum	SCAN
rs7976110	DDX55	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124239800-124252000	Weak transcription	K562	blood
2	chr12:124244800-124254800	Weak transcription	HSMMtube	muscle
3	chr12:124247200-124251600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:124247600-124251800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:124247600-124252000	Weak transcription	Fetal Thymus	thymus
6	chr12:124247800-124250000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:124248000-124251600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:124248000-124251600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:124248000-124252200	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:124248000-124252200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:124249400-124250000	Weak transcription	H9 Derived Neuron 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