Variant report

Variant	rs1818349
Chromosome Location	chr5:90333636-90333637
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:11)

rs_ID	r²[population]
rs10037172	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1830364	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2367279	0.89[ASN][1000 genomes]
rs2367284	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2697542	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2697548	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2973446	0.90[ASN][1000 genomes]
rs4244206	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7449334	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9293558	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs937920	0.88[AFR][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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv882369	chr5:90275825-90344149	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 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	chr5:90324600-90335200	Weak transcription	Small Intestine	intestine
2	chr5:90324600-90350400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:90329600-90334200	Weak transcription	Psoas Muscle	Psoas
4	chr5:90330800-90338000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:90331800-90334000	Weak transcription	Fetal Stomach	stomach
6	chr5:90332800-90334200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:90332800-90334600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr5:90332800-90335400	Enhancers	Colon Smooth Muscle	Colon
9	chr5:90332800-90335400	Enhancers	Rectal Smooth Muscle	rectum
10	chr5:90333000-90333800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:90333000-90334000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:90333400-90334000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr5:90333400-90334200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:90333400-90335000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:90333400-90335200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:90333600-90334200	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:90333600-90335400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:90333600-90335400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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

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