Variant report

Variant	rs12702378
Chromosome Location	chr7:47779146-47779147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12702376	0.83[ASN][1000 genomes]
rs13307484	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1453283	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2017915	0.90[EUR][1000 genomes]
rs6945610	0.83[ASN][1000 genomes]
rs9771401	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015163	chr7:47734913-47832389	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv538831	chr7:47734913-47832389	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv830990	chr7:47767540-47837584	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47774400-47802600	Weak transcription	Pancreas	Pancrea
2	chr7:47774600-47781000	Enhancers	HepG2	liver
3	chr7:47774600-47783800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:47775400-47783400	Weak transcription	A549	lung
5	chr7:47776200-47779400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:47776200-47779600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:47776200-47779800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:47776800-47779800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:47777000-47779200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:47777800-47781800	Weak transcription	Fetal Lung	lung
11	chr7:47778400-47779800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:47778400-47779800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:47778600-47779200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr7:47778600-47779400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:47778600-47779400	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:47778600-47779800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:47778600-47779800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr7:47778800-47779200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr7:47778800-47779200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:47778800-47779400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:47778800-47780200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:47779000-47779400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr7:47779000-47779400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:47779000-47779400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:47779000-47779800	Enhancers	NHLF	lung
26	chr7:47779000-47780000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:47779000-47782000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:47779000-47783400	Weak transcription	Primary B cells from peripheral blood	blood

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