Variant report

Variant	rs4646440
Chromosome Location	chr7:99360870-99360871
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	RCOR1	chr7:99360637-99360945	Hela-S3	cervix:	n/a	n/a
2	FOS	chr7:99360591-99361062	MCF10A-Er-Src	breast:	n/a	chr7:99360745-99360755
3	SMC3	chr7:99360672-99360906	Hela-S3	cervix:	n/a	n/a
4	MAFK	chr7:99360669-99360887	IMR90	lung:	n/a	chr7:99360744-99360754
5	POLR2A	chr7:99360616-99360992	MCF10A-Er-Src	breast:	n/a	n/a
6	EP300	chr7:99360387-99360956	K562	blood:	n/a	n/a
7	UBTF	chr7:99360562-99360935	K562	blood:	n/a	n/a
8	UBTF	chr7:99360533-99360953	K562	blood:	n/a	n/a
9	MAFF	chr7:99360569-99360890	K562	blood:	n/a	n/a
10	CBX3	chr7:99360292-99360970	K562	blood:	n/a	n/a
11	FOS	chr7:99360591-99360934	MCF10A-Er-Src	breast:	n/a	chr7:99360745-99360755
12	FOS	chr7:99360592-99361046	MCF10A-Er-Src	breast:	n/a	chr7:99360745-99360755
13	CUX1	chr7:99360597-99361175	K562	blood:	n/a	n/a
14	MAFK	chr7:99360653-99360907	Hela-S3	cervix:	n/a	chr7:99360744-99360754
15	STAT3	chr7:99360704-99361171	MCF10A-Er-Src	breast:	n/a	chr7:99361073-99361081
16	TEAD4	chr7:99360274-99360982	K562	blood:	n/a	n/a
17	MYC	chr7:99360594-99361139	MCF10A-Er-Src	breast:	n/a	n/a
18	RAD21	chr7:99360582-99360941	Hela-S3	cervix:	n/a	n/a
19	RCOR1	chr7:99360492-99360883	K562	blood:	n/a	n/a
20	MAFK	chr7:99360568-99360940	K562	blood:	n/a	chr7:99360744-99360754
21	TAL1	chr7:99360346-99360921	K562	blood:	n/a	n/a
22	BHLHE40	chr7:99360674-99360886	K562	blood:	n/a	n/a
23	FOS	chr7:99360591-99361047	MCF10A-Er-Src	breast:	n/a	chr7:99360745-99360755
24	JUND	chr7:99360523-99360941	K562	blood:	n/a	chr7:99360745-99360755
25	STAT3	chr7:99360828-99361028	MCF10A-Er-Src	breast:	n/a	n/a
26	EBF1	chr7:99360832-99361020	GM12878	blood:	n/a	n/a
27	MAX	chr7:99360566-99360936	K562	blood:	n/a	n/a
28	MAZ	chr7:99360643-99360880	K562	blood:	n/a	n/a
29	GATA1	chr7:99360374-99360995	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99355786..99358236-chr7:99360607..99362683,2	K562	blood:
2	chr7:99358230..99360940-chr7:99460072..99462897,2	K562	blood:

Variant related genes	Relation type
ENSG00000273407	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10211	0.80[JPT][hapmap]
rs10282706	0.80[JPT][hapmap]
rs17161771	0.89[AFR][1000 genomes]
rs17161772	0.91[AFR][1000 genomes]
rs17161774	0.93[YRI][hapmap];0.93[AFR][1000 genomes]
rs17161783	0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs1851427	0.95[AFR][1000 genomes]
rs2242480	0.84[ASN][1000 genomes]
rs2687075	0.82[JPT][hapmap]
rs3823812	0.85[AFR][1000 genomes]
rs41301658	0.91[AFR][1000 genomes]
rs45460091	0.95[AFR][1000 genomes]
rs4646446	0.92[YRI][hapmap];0.95[AFR][1000 genomes]
rs4646447	0.92[YRI][hapmap];0.95[AFR][1000 genomes]
rs4646449	0.92[YRI][hapmap];0.95[AFR][1000 genomes]
rs4646453	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs4646456	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs4646462	0.98[AFR][1000 genomes]
rs60298785	0.95[AFR][1000 genomes]
rs60865030	0.95[AFR][1000 genomes]
rs61337492	0.93[AFR][1000 genomes]
rs72494454	0.95[AFR][1000 genomes]
rs72494458	0.93[AFR][1000 genomes]
rs8175345	0.92[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482532	chr7:99205906-99363886	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3331003	chr7:99337054-99386069	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	esv3450108	chr7:99339737-99383419	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1827709	chr7:99353500-99440051	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv482109	chr7:99354604-99381808	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv970558	chr7:99358519-99389907	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:99350800-99369800	Weak transcription	Pancreas	Pancrea
2	chr7:99351000-99364000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:99355400-99365800	Strong transcription	Liver	Liver
4	chr7:99359600-99361600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:99359600-99361600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr7:99359600-99362000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:99359800-99361400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:99359800-99361400	Enhancers	HMEC	breast
9	chr7:99360000-99361000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:99360000-99361600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:99360000-99361600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr7:99360400-99361000	Enhancers	HSMMtube	muscle
13	chr7:99360400-99361000	Flanking Active TSS	K562	blood
14	chr7:99360400-99361000	Enhancers	Osteobl	bone
15	chr7:99360400-99361200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:99360400-99361200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:99360400-99361400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:99360400-99361400	Enhancers	HSMM	muscle
19	chr7:99360400-99361400	Enhancers	NH-A	brain
20	chr7:99360400-99361600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:99360400-99361600	Enhancers	Stomach Mucosa	stomach
22	chr7:99360600-99361000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:99360600-99361000	Flanking Active TSS	NHEK	skin
24	chr7:99360800-99361000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:99360800-99361000	Enhancers	Fetal Lung	lung
26	chr7:99360800-99361400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:99360800-99361400	Active TSS	Fetal Brain Male	brain
28	chr7:99360800-99361400	Enhancers	Hela-S3	cervix

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