Variant report

Variant	rs7737448
Chromosome Location	chr5:60551804-60551805
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:60551625-60551824	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60549933..60553711-chr5:60556075..60559631,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249279	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10037643	0.92[CHB][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs10052765	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10062338	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10065444	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10071763	0.92[ASN][1000 genomes]
rs10434526	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10461467	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10471510	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10939888	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10939890	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10939892	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs10939893	1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs12189426	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518152	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12523278	0.84[CHB][hapmap];0.89[ASN][1000 genomes]
rs12696979	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12696980	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167234	0.82[AMR][1000 genomes]
rs13167244	0.82[AMR][1000 genomes]
rs13175564	1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[ASN][1000 genomes]
rs13187871	0.82[AMR][1000 genomes]
rs34439016	0.96[ASN][1000 genomes]
rs35310874	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4400074	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4441832	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4540126	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699974	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4699975	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4700415	0.82[AMR][1000 genomes]
rs6864367	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6867268	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6867417	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6885499	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6892128	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7448844	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9291718	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7737448	DEPDC1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60541800-60552600	Weak transcription	A549	lung
2	chr5:60546400-60552000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:60549000-60552400	Weak transcription	Esophagus	oesophagus
4	chr5:60549200-60553000	Enhancers	Stomach Mucosa	stomach
5	chr5:60550200-60552000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:60550400-60552200	Weak transcription	Ovary	ovary
7	chr5:60550400-60552600	Enhancers	NHEK	skin
8	chr5:60550400-60573400	Weak transcription	Gastric	stomach
9	chr5:60550800-60552400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:60550800-60552400	Enhancers	HMEC	breast
11	chr5:60550800-60552600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr5:60551000-60552400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:60551000-60553000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr5:60551000-60553000	Enhancers	Hela-S3	cervix
15	chr5:60551000-60553400	Enhancers	Duodenum Mucosa	Duodenum
16	chr5:60551200-60552200	Weak transcription	Pancreas	Pancrea
17	chr5:60551400-60552000	Weak transcription	Fetal Intestine Small	intestine
18	chr5:60551400-60552400	Weak transcription	Fetal Intestine Large	intestine

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