Variant report

Variant	rs11738947
Chromosome Location	chr5:124593936-124593937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1118619	0.80[EUR][1000 genomes]
rs12153456	0.92[EUR][1000 genomes]
rs12520745	0.95[EUR][1000 genomes]
rs12522773	0.93[EUR][1000 genomes]
rs1371379	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1439603	0.86[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1439606	0.86[EUR][1000 genomes]
rs17152484	0.82[EUR][1000 genomes]
rs17152494	0.94[EUR][1000 genomes]
rs17152504	1.00[CEU][hapmap];0.89[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs2196838	0.95[EUR][1000 genomes]
rs57076729	0.95[EUR][1000 genomes]
rs57689949	0.95[EUR][1000 genomes]
rs57839809	0.90[EUR][1000 genomes]
rs58310573	0.81[EUR][1000 genomes]
rs6878671	0.93[EUR][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	nsv882823	chr5:124569471-124639468	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124587000-124594400	Weak transcription	Psoas Muscle	Psoas
2	chr5:124589600-124594400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:124590600-124596800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr5:124591800-124594600	Enhancers	Fetal Heart	heart
5	chr5:124592400-124594000	Enhancers	HSMMtube	muscle
6	chr5:124592800-124594000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr5:124592800-124594400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:124593200-124594000	Enhancers	Brain Germinal Matrix	brain
9	chr5:124593200-124609200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:124593400-124596600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:124593400-124596800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:124593600-124594000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr5:124593600-124597400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:124593600-124598600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:124593800-124594600	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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