Variant report

Variant	rs4704369
Chromosome Location	chr5:76144865-76144866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2460507	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2460508	0.84[CHD][hapmap]
rs6883291	0.86[EUR][1000 genomes]
rs6885207	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs7708384	0.91[CEU][hapmap];0.84[TSI][hapmap];0.86[EUR][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	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3393424	chr5:76122720-76287744	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2762526	chr5:76134777-76153934	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv34133	chr5:76138696-76239330	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4704369	DMGDH	cis	cerebellum	SCAN
rs4704369	F2RL1	cis	multi-tissue	Pritchard

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76132200-76145800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:76135400-76145600	Weak transcription	Gastric	stomach
3	chr5:76136000-76146400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:76140600-76145000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr5:76140600-76145800	Weak transcription	Adipose Nuclei	Adipose
6	chr5:76142600-76145800	Weak transcription	Right Atrium	heart
7	chr5:76143200-76145800	Enhancers	Primary hematopoietic stem cells	blood
8	chr5:76143200-76145800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:76143600-76145600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:76144400-76145200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:76144400-76145200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr5:76144400-76150600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:76144800-76145200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr5:76144800-76145200	Enhancers	K562	blood
15	chr5:76144800-76145200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr5:76144800-76148200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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