Variant report

Variant	rs7801678
Chromosome Location	chr7:128155098-128155099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128154968..128157377-chr7:128169188..128171020,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10223975	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10231136	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259359	0.81[AFR][1000 genomes]
rs10272840	1.00[ASN][1000 genomes]
rs11766319	0.86[AFR][1000 genomes]
rs11770604	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11772734	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530672	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12532513	0.86[ASN][1000 genomes]
rs12540658	1.00[ASN][1000 genomes]
rs13224451	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13224784	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13226592	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13233642	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13247746	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4338038	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57049631	0.83[AFR][1000 genomes]
rs57890423	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60654313	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467181	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6963982	0.82[AFR][1000 genomes]
rs71546775	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7777625	0.83[AFR][1000 genomes]
rs7790839	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7798776	0.82[EUR][1000 genomes];0.91[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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7801678	METTL2B	cis	Skin Sun Exposed Lower leg	GTEx
rs7801678	RP11-274B21.10	cis	Thyroid	GTEx
rs7801678	RP11-274B21.10	cis	Esophagus Mucosa	GTEx
rs7801678	CICP14	cis	Thyroid	GTEx
rs7801678	RP11-274B21.10	cis	Skin Sun Exposed Lower leg	GTEx
rs7801678	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs7801678	CICP14	cis	Nerve Tibial	GTEx

Chromatin state (count:9 , 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	chr7:128142200-128163200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr7:128143600-128155400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:128143800-128160000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:128153200-128163200	Weak transcription	K562	blood
9	chr7:128154600-128155400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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