Variant report

Variant	rs4352448
Chromosome Location	chr4:48188802-48188803
allele	A/G/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:14)

rs_ID	r²[population]
rs12499674	0.81[ASN][1000 genomes]
rs13136179	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13146265	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2352592	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28578119	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4235153	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4312730	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4694887	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4695355	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55869455	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6447617	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6818552	0.81[ASN][1000 genomes]
rs6845258	0.82[ASN][1000 genomes]
rs9715214	0.88[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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1006853	chr4:48164958-48196335	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
2	chr4:48169000-48190000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:48175800-48191600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:48178000-48192400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr4:48183200-48194800	Weak transcription	Fetal Thymus	thymus
6	chr4:48184600-48189400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr4:48185000-48189600	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr4:48185600-48189600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:48185600-48189600	Weak transcription	K562	blood
10	chr4:48185600-48192400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr4:48185800-48189800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:48185800-48197000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr4:48186000-48189400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:48186000-48189600	Weak transcription	Fetal Heart	heart
15	chr4:48186000-48189600	Weak transcription	GM12878-XiMat	blood
16	chr4:48186000-48194800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr4:48187800-48189000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:48188600-48196000	Weak transcription	Lung	lung

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