Variant report

Variant	rs1204974
Chromosome Location	chr14:72224472-72224473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1204973	0.90[EUR][1000 genomes]
rs1204975	0.89[EUR][1000 genomes]
rs1204977	0.85[AFR][1000 genomes]
rs1204979	0.85[AFR][1000 genomes]
rs1204980	0.85[AFR][1000 genomes]
rs1892559	1.00[JPT][hapmap]
rs35499119	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71427126	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8015706	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398985	chr14:71927884-72404676	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1047559	chr14:72151736-72282151	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1204974	ACTN1	cis	parietal	SCAN
rs1204974	COQ6	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72219800-72224600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72220600-72231400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:72221600-72243200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:72221800-72225400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:72221800-72230000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:72222400-72231000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:72223600-72225400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:72223600-72225600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:72224400-72224600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:72224400-72225400	Enhancers	Fetal Stomach	stomach

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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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