Variant report

Variant	rs2352592
Chromosome Location	chr4:48192627-48192628
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12499674	0.91[ASN][1000 genomes]
rs13136179	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13146265	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28578119	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4235153	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4312730	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4352448	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4694887	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695355	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695356	0.80[EUR][1000 genomes]
rs55869455	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6447617	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6818552	0.91[ASN][1000 genomes]
rs6845258	0.91[ASN][1000 genomes]
rs9715214	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48183200-48194800	Weak transcription	Fetal Thymus	thymus
2	chr4:48185800-48197000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:48186000-48194800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:48188600-48196000	Weak transcription	Lung	lung
5	chr4:48190200-48195200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:48190200-48195800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:48190400-48194800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr4:48190400-48195400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:48190400-48195400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:48190400-48197400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:48190400-48222000	Weak transcription	Fetal Intestine Small	intestine
12	chr4:48190600-48207200	Weak transcription	Spleen	Spleen
13	chr4:48191400-48197400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr4:48191800-48194000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
15	chr4:48192400-48192800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr4:48192400-48193200	Enhancers	Primary B cells from peripheral blood	blood
17	chr4:48192600-48195000	Weak transcription	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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