Variant report

Variant	rs10078598
Chromosome Location	chr5:96397873-96397874
allele	C/T
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	TCF12	chr5:96397621-96398407	ECC-1	luminal epithelium:	n/a	n/a
2	ESR1	chr5:96397751-96398370	ECC-1	luminal epithelium:	n/a	n/a
3	USF1	chr5:96397701-96398243	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr5:96397648-96398457	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr5:96397567-96398333	ECC-1	luminal epithelium:	n/a	chr5:96397932-96397941 chr5:96397930-96397943 chr5:96397931-96397941 chr5:96397933-96397942 chr5:96397932-96397941 chr5:96397931-96397942 chr5:96397931-96397942 chr5:96397932-96397941 chr5:96397932-96397942 chr5:96397930-96397943 chr5:96397930-96397943 chr5:96397930-96397943 chr5:96397931-96397942 chr5:96397931-96397941 chr5:96397932-96397942 chr5:96397928-96397943
6	TCF7L2	chr5:96397805-96398259	PANC-1	pancreas:	n/a	chr5:96397994-96398001 chr5:96397941-96397948
7	EP300	chr5:96397706-96398260	ECC-1	luminal epithelium:	n/a	chr5:96397880-96397889
8	ESR1	chr5:96397659-96398475	ECC-1	luminal epithelium:	n/a	n/a
9	ESR1	chr5:96397607-96398412	ECC-1	luminal epithelium:	n/a	n/a
10	EP300	chr5:96397595-96398414	ECC-1	luminal epithelium:	n/a	chr5:96397880-96397889
11	TCF12	chr5:96397471-96398576	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr5:96397612-96398329	ECC-1	luminal epithelium:	n/a	chr5:96397932-96397941 chr5:96397930-96397943 chr5:96397931-96397941 chr5:96397933-96397942 chr5:96397932-96397941 chr5:96397931-96397942 chr5:96397931-96397942 chr5:96397932-96397941 chr5:96397932-96397942 chr5:96397930-96397943 chr5:96397930-96397943 chr5:96397930-96397943 chr5:96397931-96397942 chr5:96397931-96397941 chr5:96397932-96397942 chr5:96397928-96397943
13	ESR1	chr5:96397661-96398325	ECC-1	luminal epithelium:	n/a	n/a
14	TEAD4	chr5:96397671-96398370	ECC-1	luminal epithelium:	n/a	n/a
15	USF1	chr5:96397712-96398281	ECC-1	luminal epithelium:	n/a	n/a
16	YY1	chr5:96397814-96398388	ECC-1	luminal epithelium:	n/a	n/a
17	NFIC	chr5:96397596-96398406	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr5:96397637-96397998	ECC-1	luminal epithelium:	n/a	n/a
19	ESR1	chr5:96397824-96398125	T-47D	breast:	n/a	n/a
20	ESR1	chr5:96397648-96398389	ECC-1	luminal epithelium:	n/a	n/a
21	TEAD4	chr5:96397658-96398269	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:96396537..96398150-chr5:96400211..96401928,2	K562	blood:

Variant related genes	Relation type
SETP22	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10035506	0.88[AFR][1000 genomes]
rs10040032	0.94[AFR][1000 genomes]
rs10061310	0.94[AFR][1000 genomes]
rs10070317	0.94[AFR][1000 genomes]
rs12332089	0.94[AFR][1000 genomes]
rs2098593	0.94[AFR][1000 genomes]
rs9314186	0.84[AFR][1000 genomes]
rs9314187	0.94[AFR][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	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv4924	chr5:96391451-96437233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96395800-96398800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:96397400-96398000	Enhancers	Psoas Muscle	Psoas
3	chr5:96397400-96398200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr5:96397400-96398400	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr5:96397400-96399800	Enhancers	Fetal Muscle Leg	muscle
6	chr5:96397600-96398000	Enhancers	Fetal Muscle Trunk	muscle
7	chr5:96397600-96398200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:96397600-96398200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr5:96397800-96398000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:96397800-96398000	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr5:96397800-96398000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:96397800-96398200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:96397800-96398200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:96397800-96398200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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