Variant report

Variant	rs4090594
Chromosome Location	chr5:106956443-106956444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10074258	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs10077695	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11242641	0.98[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12187753	0.85[CHB][hapmap];0.84[JPT][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13163062	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17160246	0.86[CHB][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs17160255	0.86[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs17160261	0.91[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.96[ASN][1000 genomes]
rs17160272	0.81[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17160287	0.80[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17160301	0.86[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs55754532	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62355651	0.94[ASN][1000 genomes]
rs7703820	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr5:106942400-106981600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:106944600-106969200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:106947200-106957400	Weak transcription	GM12878-XiMat	blood
4	chr5:106953200-106956800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:106953200-106959600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr5:106953400-106957000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:106953600-106962200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:106954200-106956800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:106954200-106967600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:106954400-106956800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:106954400-106968800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:106954800-106959400	Weak transcription	Fetal Heart	heart
13	chr5:106955400-106969000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:106956000-106968200	Weak transcription	A549	lung
15	chr5:106956200-106956600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:106956200-106959800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:106956400-106956600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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