Variant report

Variant	rs7792748
Chromosome Location	chr7:140009332-140009333
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11772239	0.91[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[ASN][1000 genomes]
rs12538711	0.81[JPT][hapmap]
rs12672394	0.89[ASN][1000 genomes]
rs12673119	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12703730	0.80[CHB][hapmap];0.80[JPT][hapmap]
rs12703742	0.91[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.89[ASN][1000 genomes]
rs34473504	0.89[ASN][1000 genomes]
rs35828749	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4275141	0.81[CHB][hapmap]
rs4725679	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4726766	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6970317	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1026255	chr7:139944473-140043299	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv517812	chr7:140009332-140010108	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7792748	CREB3L2	cis	parietal	SCAN
rs7792748	CHRM2	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140003400-140010000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:140004600-140010200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:140004600-140011200	Enhancers	HepG2	liver
4	chr7:140004600-140015400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr7:140006000-140015400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:140006800-140009400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:140007000-140011600	Weak transcription	Primary B cells from cord blood	blood
8	chr7:140007400-140010800	Enhancers	Ovary	ovary
9	chr7:140008400-140010000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:140008400-140014800	Weak transcription	Stomach Mucosa	stomach
11	chr7:140008800-140009400	Enhancers	Colonic Mucosa	Colon
12	chr7:140008800-140010400	Enhancers	Colon Smooth Muscle	Colon
13	chr7:140008800-140012200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr7:140009200-140010200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr7:140009200-140010800	Enhancers	A549	lung

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

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