Variant report

Variant	rs4704368
Chromosome Location	chr5:76140813-76140814
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13162041	0.82[EUR][1000 genomes]
rs2460507	0.86[GIH][hapmap]
rs4704366	0.88[MEX][hapmap];0.83[AMR][1000 genomes]
rs4704367	0.84[EUR][1000 genomes]
rs6885207	0.84[GIH][hapmap]
rs7729082	0.83[CEU][hapmap];0.92[CHB][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv994503	chr5:76129230-76144182	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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
5	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4704368	F2RL1	cis	multi-tissue	Pritchard

Chromatin state (count:14 , 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	chr5:76137600-76144400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:76140000-76141200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:76140000-76141200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:76140000-76141200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr5:76140600-76143000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:76140600-76145000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:76140600-76145800	Weak transcription	Adipose Nuclei	Adipose
11	chr5:76140800-76141200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:76140800-76141200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:76140800-76141200	Enhancers	HMEC	breast
14	chr5:76140800-76143200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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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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