Variant report

Variant	rs71546775
Chromosome Location	chr7:128150457-128150458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10223975	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10231136	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10272840	0.80[ASN][1000 genomes]
rs11767993	0.96[EUR][1000 genomes]
rs11770604	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11772734	0.80[ASN][1000 genomes]
rs12530672	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532513	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12540658	0.80[ASN][1000 genomes]
rs13224451	0.80[ASN][1000 genomes]
rs13224784	0.80[ASN][1000 genomes]
rs13226592	0.87[EUR][1000 genomes]
rs13233642	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13247746	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34742251	0.85[EUR][1000 genomes]
rs4338038	0.80[ASN][1000 genomes]
rs57890423	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60654313	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7790839	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7798776	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7801678	0.82[EUR][1000 genomes];0.80[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	esv1794896	chr7:128142170-128170380	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs71546775	CICP14	cis	Thyroid	GTEx
rs71546775	RP11-274B21.10	cis	Skin Sun Exposed Lower leg	GTEx
rs71546775	CICP14	cis	Nerve Tibial	GTEx
rs71546775	CICP14	cis	Muscle Skeletal	GTEx
rs71546775	RP11-274B21.10	cis	Thyroid	GTEx
rs71546775	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs71546775	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs71546775	METTL2B	cis	Artery Tibial	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128117800-128162800	Weak transcription	Pancreas	Pancrea
2	chr7:128117800-128163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:128122000-128155400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:128122400-128156800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:128141600-128150600	Weak transcription	Fetal Brain Female	brain
6	chr7:128141800-128152000	Weak transcription	K562	blood
7	chr7:128142000-128151400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr7:128142200-128152600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:128142200-128163200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr7:128142400-128152200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:128142600-128152000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:128142800-128152000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:128143400-128151000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr7:128143600-128155400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:128143800-128160000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:128144000-128152000	Weak transcription	Adipose Nuclei	Adipose
17	chr7:128144600-128150600	Weak transcription	Fetal Intestine Small	intestine
18	chr7:128145000-128151400	Weak transcription	Fetal Stomach	stomach
19	chr7:128146200-128151600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr7:128148800-128151000	Weak transcription	Spleen	Spleen
21	chr7:128148800-128151600	Weak transcription	GM12878-XiMat	blood

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