Variant report

Variant	rs2879925
Chromosome Location	chr2:234248202-234248203
allele	A/G
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	GATA3	chr2:234248103-234248456	MCF-7	breast:	n/a	n/a
2	CEBPB	chr2:234248065-234248489	Hela-S3	cervix:	n/a	chr2:234248278-234248289
3	ZNF384	chr2:234248098-234248439	K562	blood:	n/a	n/a
4	NR2F2	chr2:234247958-234248466	MCF-7	breast:	n/a	n/a
5	CEBPB	chr2:234247951-234248452	MCF-7	breast:	n/a	chr2:234248278-234248289
6	CEBPB	chr2:234248142-234248419	K562	blood:	n/a	chr2:234248278-234248289
7	CEBPB	chr2:234248169-234248370	K562	blood:	n/a	chr2:234248278-234248289
8	CEBPB	chr2:234248109-234248455	HepG2	liver:	n/a	chr2:234248278-234248289
9	NR2F2	chr2:234248028-234248638	MCF-7	breast:	n/a	n/a
10	CEBPB	chr2:234248144-234248441	IMR90	lung:	n/a	chr2:234248278-234248289
11	RAD21	chr2:234248197-234248445	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr2:234248139-234248400	MCF-7	breast:	n/a	chr2:234248278-234248289
13	GATA3	chr2:234247841-234248654	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:234159356..234161467-chr2:234246206..234249085,2	MCF-7	breast:
2	chr2:234243950..234246353-chr2:234247665..234249180,2	K562	blood:
3	chr2:234247812..234248755-chr2:234257486..234258176,3	MCF-7	breast:

Variant related genes	Relation type
SAG	TF binding region
ENSG00000085978	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1000141	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10803624	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10803625	0.85[ASN][1000 genomes]
rs11676156	0.94[ASN][1000 genomes]
rs11679046	0.94[ASN][1000 genomes]
rs11681192	0.94[ASN][1000 genomes]
rs11682579	0.94[ASN][1000 genomes]
rs12997325	0.80[EUR][1000 genomes]
rs13002340	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13003198	0.86[ASN][1000 genomes]
rs2304774	0.80[EUR][1000 genomes]
rs2304776	0.80[AMR][1000 genomes]
rs2879924	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34595600	0.96[ASN][1000 genomes]
rs34891595	0.96[ASN][1000 genomes]
rs35480652	0.94[ASN][1000 genomes]
rs3828305	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55991949	0.80[EUR][1000 genomes]
rs67399374	0.95[ASN][1000 genomes]
rs7423426	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs880114	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs880116	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1002075	chr2:234225979-234277508	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv460135	chr2:234242347-234288048	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv584701	chr2:234242347-234288048	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv460136	chr2:234244395-234288048	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv584702	chr2:234244395-234288048	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr2:234237400-234249800	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:234241000-234249600	Enhancers	Primary B cells from cord blood	blood
3	chr2:234244600-234257800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:234246600-234249400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:234247000-234248400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:234247000-234249200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr2:234247000-234249400	Enhancers	Hela-S3	cervix
8	chr2:234247200-234248400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr2:234247200-234249400	Enhancers	HepG2	liver
10	chr2:234247400-234249200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:234247400-234249200	Enhancers	Stomach Mucosa	stomach
12	chr2:234247400-234251400	Weak transcription	K562	blood
13	chr2:234247600-234257400	Weak transcription	Spleen	Spleen
14	chr2:234247800-234248400	Enhancers	Rectal Mucosa Donor 31	rectum

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