Variant report

Variant	rs4724619
Chromosome Location	chr7:47782640-47782641
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47773818..47776003-chr7:47781051..47783557,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10237557	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10260066	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10276437	0.85[MEX][hapmap]
rs11769689	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11769691	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12666747	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12670472	0.85[MEX][hapmap]
rs12670596	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4724618	0.82[AMR][1000 genomes]
rs6463435	0.83[ASN][1000 genomes]
rs9769459	0.85[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4724619	TMED4	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47774400-47802600	Weak transcription	Pancreas	Pancrea
2	chr7:47774600-47783800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:47775400-47783400	Weak transcription	A549	lung
4	chr7:47779000-47783400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr7:47779200-47783600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:47779200-47783800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:47779400-47783400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:47779400-47783400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:47779400-47783600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:47779400-47783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:47779600-47783400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:47779800-47783400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:47779800-47783600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:47780000-47783800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:47781000-47783400	Weak transcription	HepG2	liver
16	chr7:47781800-47795400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:47782000-47783400	Weak transcription	NHLF	lung
18	chr7:47782000-47783600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:47782000-47783600	Weak transcription	Fetal Stomach	stomach
20	chr7:47782200-47783400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:47782600-47783400	Weak transcription	Fetal Lung	lung

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