Variant report

Variant	rs35449703
Chromosome Location	chr4:122138820-122138821
allele	G/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	CEBPB	chr4:122138690-122139000	HepG2	liver:	n/a	chr4:122138807-122138818 chr4:122138807-122138816 chr4:122138805-122138818 chr4:122138805-122138818 chr4:122138763-122138776 chr4:122138805-122138816 chr4:122138765-122138776
2	MAFF	chr4:122138648-122138847	HepG2	liver:	n/a	n/a
3	CEBPB	chr4:122138714-122138929	A549	lung:	n/a	chr4:122138807-122138818 chr4:122138807-122138816 chr4:122138805-122138818 chr4:122138805-122138818 chr4:122138763-122138776 chr4:122138805-122138816 chr4:122138765-122138776
4	MAFK	chr4:122138683-122138905	HepG2	liver:	n/a	n/a
5	CEBPB	chr4:122138629-122138989	IMR90	lung:	n/a	chr4:122138807-122138818 chr4:122138807-122138816 chr4:122138805-122138818 chr4:122138805-122138818 chr4:122138763-122138776 chr4:122138805-122138816 chr4:122138765-122138776
6	EP300	chr4:122138731-122138952	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr4:122138620-122138977	Hela-S3	cervix:	n/a	chr4:122138807-122138818 chr4:122138807-122138816 chr4:122138805-122138818 chr4:122138805-122138818 chr4:122138763-122138776 chr4:122138805-122138816 chr4:122138765-122138776
8	MAFK	chr4:122138649-122138895	HepG2	liver:	n/a	n/a
9	GATA3	chr4:122138558-122139091	SK-N-SH	brain:	n/a	chr4:122138854-122138861
10	GATA3	chr4:122138518-122139103	SK-N-SH	brain:	n/a	chr4:122138854-122138861

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122138311..122140840-chr4:122141351..122144683,3	K562	blood:
2	chr4:122132988..122135526-chr4:122137849..122140613,2	K562	blood:

Variant related genes	Relation type
TNIP3	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10015340	0.81[ASN][1000 genomes]
rs10446733	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10454795	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11098605	0.91[ASN][1000 genomes]
rs11947841	0.97[ASN][1000 genomes]
rs13101385	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13102428	0.97[ASN][1000 genomes]
rs13104663	0.84[ASN][1000 genomes]
rs13104875	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13106084	0.97[ASN][1000 genomes]
rs13106137	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13107912	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13108214	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13109100	0.97[ASN][1000 genomes]
rs13112923	0.84[ASN][1000 genomes]
rs13115256	0.81[ASN][1000 genomes]
rs13116723	0.97[ASN][1000 genomes]
rs13116936	0.81[ASN][1000 genomes]
rs13118027	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13123960	0.97[ASN][1000 genomes]
rs13124511	0.97[ASN][1000 genomes]
rs13124522	0.97[ASN][1000 genomes]
rs13126929	0.91[ASN][1000 genomes]
rs13128962	0.81[ASN][1000 genomes]
rs13129000	0.81[ASN][1000 genomes]
rs13129293	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13133184	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13133221	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13133584	0.91[ASN][1000 genomes]
rs13137539	0.91[ASN][1000 genomes]
rs13143534	0.81[ASN][1000 genomes]
rs13150702	0.91[ASN][1000 genomes]
rs13151913	0.81[ASN][1000 genomes]
rs13152159	0.81[ASN][1000 genomes]
rs13152687	0.97[ASN][1000 genomes]
rs17051320	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17051321	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2136942	0.81[ASN][1000 genomes]
rs2136943	0.81[ASN][1000 genomes]
rs2198315	0.81[ASN][1000 genomes]
rs2218959	0.83[ASN][1000 genomes]
rs28513714	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28530598	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35971082	0.91[ASN][1000 genomes]
rs36087391	0.97[ASN][1000 genomes]
rs3817171	0.85[ASN][1000 genomes]
rs6534254	0.97[ASN][1000 genomes]
rs6811411	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6812399	0.81[ASN][1000 genomes]
rs6812515	0.81[ASN][1000 genomes]
rs6814480	0.97[ASN][1000 genomes]
rs6820363	0.91[ASN][1000 genomes]
rs6821331	0.91[ASN][1000 genomes]
rs6835790	0.91[ASN][1000 genomes]
rs6838000	0.97[ASN][1000 genomes]
rs6839386	0.97[ASN][1000 genomes]
rs6856825	0.85[ASN][1000 genomes]
rs71629498	0.91[ASN][1000 genomes]
rs7680038	0.81[ASN][1000 genomes]
rs7684168	0.81[ASN][1000 genomes]
rs896621	0.81[ASN][1000 genomes]
rs9284633	0.81[ASN][1000 genomes]
rs9307490	0.81[ASN][1000 genomes]
rs998327	0.91[ASN][1000 genomes]
rs9992960	0.81[ASN][1000 genomes]
rs9993163	0.81[ASN][1000 genomes]
rs9998339	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3386870	chr4:121867625-122208448	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv879859	chr4:121892490-122438312	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv879861	chr4:122126808-122181277	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 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	chr4:122136600-122143200	Enhancers	Fetal Lung	lung
2	chr4:122137200-122140800	Enhancers	Fetal Stomach	stomach
3	chr4:122137600-122139600	Enhancers	NHDF-Ad	bronchial
4	chr4:122137800-122140400	Enhancers	NHLF	lung
5	chr4:122138200-122139600	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:122138200-122141800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr4:122138400-122141600	Weak transcription	Primary T cells from cord blood	blood
8	chr4:122138600-122139200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:122138600-122139800	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:122138800-122139200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:122138800-122139600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr4:122138800-122140800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr4:122138800-122141400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:122138800-122147600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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