Variant report

Variant	rs4699370
Chromosome Location	chr4:99873140-99873141
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr4:99872816-99873253	K562	blood:	n/a	n/a
2	RFX5	chr4:99872917-99873346	K562	blood:	n/a	chr4:99873117-99873132
3	CCNT2	chr4:99872919-99873167	K562	blood:	n/a	n/a
4	CEBPD	chr4:99872796-99873213	K562	blood:	n/a	n/a
5	GATA2	chr4:99872860-99873196	K562	blood:	n/a	n/a
6	CUX1	chr4:99873037-99873237	K562	blood:	n/a	n/a
7	CEBPB	chr4:99872909-99873182	K562	blood:	n/a	n/a
8	RFX5	chr4:99873038-99873250	HepG2	liver:	n/a	chr4:99873117-99873132
9	TAL1	chr4:99872828-99873215	K562	blood:	n/a	n/a
10	CEBPD	chr4:99872826-99873282	K562	blood:	n/a	n/a
11	GATA2	chr4:99872826-99873163	K562	blood:	n/a	n/a
12	EP300	chr4:99872887-99873189	K562	blood:	n/a	n/a
13	HMGN3	chr4:99872938-99873186	K562	blood:	n/a	n/a
14	NRF1	chr4:99873009-99873209	K562	blood:	n/a	n/a
15	JUND	chr4:99872871-99873204	K562	blood:	n/a	n/a
16	RCOR1	chr4:99872906-99873150	K562	blood:	n/a	n/a
17	RCOR1	chr4:99872861-99873147	K562	blood:	n/a	n/a
18	CEBPB	chr4:99872836-99873243	K562	blood:	n/a	n/a
19	CEBPB	chr4:99872871-99873272	K562	blood:	n/a	n/a
20	TBL1XR1	chr4:99873009-99873209	K562	blood:	n/a	n/a
21	FOS	chr4:99873090-99873149	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99849556..99852352-chr4:99871791..99874229,4	K562	blood:
2	chr4:99849844..99852352-chr4:99870483..99874229,4	K562	blood:

No data

Variant related genes	Relation type
FAM177A1P1	TF binding region
ENSG00000263923	Chromatin interaction
ENSG00000238449	Chromatin interaction
ENSG00000151247	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10005314	0.81[EUR][1000 genomes]
rs10007957	0.83[ASN][1000 genomes]
rs10008093	0.83[ASN][1000 genomes]
rs10011791	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10019506	0.85[ASN][1000 genomes]
rs10020687	0.82[ASN][1000 genomes]
rs10022521	0.85[ASN][1000 genomes]
rs10212891	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1036946	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10433891	0.81[ASN][1000 genomes]
rs10433976	0.81[ASN][1000 genomes]
rs10461135	0.83[ASN][1000 genomes]
rs10470955	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1230147	0.88[ASN][1000 genomes]
rs1230149	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1230150	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1230152	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17028238	0.83[ASN][1000 genomes]
rs17028241	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17028244	0.83[ASN][1000 genomes]
rs17028293	0.84[ASN][1000 genomes]
rs17550514	0.83[ASN][1000 genomes]
rs2602889	0.84[ASN][1000 genomes]
rs28367437	0.85[ASN][1000 genomes]
rs28376834	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28473608	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28499420	0.81[ASN][1000 genomes]
rs28529446	0.81[ASN][1000 genomes]
rs28575093	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28589528	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28622595	0.89[ASN][1000 genomes]
rs28633499	0.83[ASN][1000 genomes]
rs3133161	0.88[ASN][1000 genomes]
rs35447189	0.89[ASN][1000 genomes]
rs60120090	0.83[ASN][1000 genomes]
rs60658326	0.83[ASN][1000 genomes]
rs6532774	0.83[ASN][1000 genomes]
rs6815444	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6830125	0.81[ASN][1000 genomes]
rs72677504	0.83[ASN][1000 genomes]
rs72692622	0.81[ASN][1000 genomes]
rs7660937	0.82[ASN][1000 genomes]
rs7661487	0.84[ASN][1000 genomes]
rs7666015	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7671306	0.81[ASN][1000 genomes]
rs7671453	0.81[ASN][1000 genomes]
rs7676504	0.81[ASN][1000 genomes]
rs7679685	0.89[ASN][1000 genomes]
rs7684964	0.81[ASN][1000 genomes]
rs994636	0.81[ASN][1000 genomes]
rs9995478	0.90[ASN][1000 genomes]
rs9996959	0.84[ASN][1000 genomes]
rs9999702	0.84[EUR][1000 genomes];0.89[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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99872000-99873200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:99872200-99873800	Enhancers	K562	blood
3	chr4:99872600-99874000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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