Variant report

Variant	rs34486900
Chromosome Location	chr2:76673246-76673247
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	EBF1	chr2:76673070-76673315	GM12878	blood:	n/a	n/a
2	SPI1	chr2:76673190-76673326	GM12878	blood:	n/a	chr2:76673281-76673290
3	SPI1	chr2:76673065-76673465	GM12878	blood:	n/a	chr2:76673281-76673290
4	RCOR1	chr2:76673070-76673519	GM12878	blood:	n/a	n/a
5	EP300	chr2:76673002-76673404	GM12878	blood:	n/a	chr2:76673285-76673294 chr2:76673281-76673295
6	RFX5	chr2:76673068-76673250	GM12878	blood:	n/a	chr2:76673146-76673154
7	CHD2	chr2:76672988-76673329	GM12878	blood:	n/a	n/a
8	BHLHE40	chr2:76672988-76673427	GM12878	blood:	n/a	n/a
9	ZNF384	chr2:76672935-76673611	GM12878	blood:	n/a	n/a
10	SPI1	chr2:76673064-76673474	HL-60	blood:	n/a	chr2:76673281-76673290
11	MXI1	chr2:76672816-76673388	GM12878	blood:	n/a	n/a
12	EP300	chr2:76672934-76673394	GM12878	blood:	n/a	chr2:76673285-76673294 chr2:76673281-76673295
13	CUX1	chr2:76673045-76673334	GM12878	blood:	n/a	n/a
14	EP300	chr2:76672996-76673449	GM12878	blood:	n/a	chr2:76673285-76673294 chr2:76673281-76673295
15	TBP	chr2:76673096-76673280	GM12878	blood:	n/a	n/a
16	SPI1	chr2:76672991-76673486	HL-60	blood:	n/a	chr2:76673281-76673290
17	SPI1	chr2:76673018-76673450	GM12878	blood:	n/a	chr2:76673281-76673290
18	TBL1XR1	chr2:76673032-76673279	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RN7SKP203	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10196661	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11688462	0.97[ASN][1000 genomes]
rs12463620	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12464763	0.95[ASN][1000 genomes]
rs12476072	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12477015	0.81[ASN][1000 genomes]
rs12477049	0.81[ASN][1000 genomes]
rs12477122	0.81[ASN][1000 genomes]
rs12613882	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12618802	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12621334	0.97[ASN][1000 genomes]
rs12624158	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12991135	0.81[ASN][1000 genomes]
rs13020282	0.81[ASN][1000 genomes]
rs13020905	0.81[ASN][1000 genomes]
rs17012789	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17516461	0.82[ASN][1000 genomes]
rs1921241	0.97[ASN][1000 genomes]
rs1921242	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1921249	0.97[ASN][1000 genomes]
rs1997450	0.93[ASN][1000 genomes]
rs2178518	0.93[ASN][1000 genomes]
rs28824528	0.80[ASN][1000 genomes]
rs28884919	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35620139	0.80[ASN][1000 genomes]
rs3923527	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4264582	0.89[ASN][1000 genomes]
rs4853245	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4853246	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4853247	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60185714	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61331198	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72809051	0.82[ASN][1000 genomes]
rs7422743	0.97[ASN][1000 genomes]
rs7559351	0.82[ASN][1000 genomes]
rs7563300	0.82[ASN][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	nsv1006097	chr2:76524248-76675427	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2757809	chr2:76541920-76705354	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759064	chr2:76541920-76705354	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv874317	chr2:76554077-76890567	Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1013614	chr2:76624220-76715121	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv582227	chr2:76662404-76712789	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76659200-76677000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:76672800-76673800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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