Variant report

Variant	rs1347924
Chromosome Location	chr5:124593173-124593174
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:124591558..124593226-chr5:124597239..124598785,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11241799	0.81[EUR][1000 genomes]
rs11740444	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11748971	0.86[EUR][1000 genomes]
rs13157669	0.87[ASN][1000 genomes]
rs13172476	0.87[ASN][1000 genomes]
rs13176117	0.82[EUR][1000 genomes]
rs13177664	0.87[ASN][1000 genomes]
rs13184952	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13185858	0.82[ASN][1000 genomes]
rs13186616	0.82[EUR][1000 genomes]
rs1439581	0.87[ASN][1000 genomes]
rs17152498	0.81[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17152511	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17152519	0.87[ASN][1000 genomes]
rs17152524	0.87[ASN][1000 genomes]
rs17152532	0.87[ASN][1000 genomes]
rs17152545	0.87[ASN][1000 genomes]
rs17152569	0.82[ASN][1000 genomes]
rs17152577	0.87[ASN][1000 genomes]
rs17152579	0.87[ASN][1000 genomes]
rs2408379	0.87[ASN][1000 genomes]
rs34584680	0.82[EUR][1000 genomes]
rs34833831	0.87[ASN][1000 genomes]
rs34871761	0.82[EUR][1000 genomes]
rs34892968	0.82[ASN][1000 genomes]
rs35073242	0.87[ASN][1000 genomes]
rs35108894	0.87[ASN][1000 genomes]
rs35654224	0.87[ASN][1000 genomes]
rs35802525	0.87[ASN][1000 genomes]
rs35914668	0.87[ASN][1000 genomes]
rs36050183	0.87[ASN][1000 genomes]
rs4835868	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6595603	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6892733	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7721989	0.84[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	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:23 , 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	chr5:124592200-124593400	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr5:124592200-124593600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:124592200-124593600	Enhancers	Fetal Brain Male	brain
8	chr5:124592400-124593200	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr5:124592400-124594000	Enhancers	HSMMtube	muscle
10	chr5:124592600-124593200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr5:124592800-124593400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:124592800-124593800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:124592800-124594000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:124592800-124594400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:124593000-124593200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:124593000-124593400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:124593000-124593400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr5:124593000-124593600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:124593000-124593600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr5:124593000-124593600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr5:124593000-124593600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:124593000-124593600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:124593000-124593600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links