Variant report

Variant	rs4704366
Chromosome Location	chr5:76137222-76137223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10053003	0.89[ASN][1000 genomes]
rs12186639	0.85[CHB][hapmap]
rs13166089	0.81[ASN][1000 genomes]
rs13179180	0.82[ASN][1000 genomes]
rs2243010	0.92[CHB][hapmap];0.87[ASN][1000 genomes]
rs3135471	0.82[ASN][1000 genomes]
rs34469953	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4704368	0.83[AMR][1000 genomes]
rs6453253	0.83[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	nsv882210	chr5:76086597-76140337	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4704366	DMGDH	cis	cerebellum	SCAN
rs4704366	ANKRA2	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76130400-76140400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:76132200-76145800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:76135000-76138600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:76135000-76139800	Weak transcription	Small Intestine	intestine
5	chr5:76135200-76140200	Weak transcription	HUVEC	blood vessel
6	chr5:76135200-76140800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:76135400-76145600	Weak transcription	Gastric	stomach
8	chr5:76136000-76137400	Weak transcription	A549	lung
9	chr5:76136000-76140400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr5:76136000-76146400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:76136200-76140000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:76136200-76140200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:76136400-76137600	Enhancers	Pancreas	Pancrea
14	chr5:76136400-76140000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr5:76136800-76140000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:76137200-76137400	Enhancers	Esophagus	oesophagus
17	chr5:76137200-76137600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr5:76137200-76137600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr5:76137200-76137600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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

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