Variant report

Variant	rs2320028
Chromosome Location	chr14:68182321-68182322
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	STAT3	chr14:68182122-68182576	Hela-S3	cervix:	n/a	chr14:68182319-68182330
2	FOS	chr14:68182213-68182580	MCF10A-Er-Src	breast:	n/a	chr14:68182393-68182402 chr14:68182391-68182403
3	JUND	chr14:68182189-68182725	K562	blood:	n/a	chr14:68182393-68182402 chr14:68182391-68182402 chr14:68182391-68182403
4	CEBPB	chr14:68182294-68182693	K562	blood:	n/a	chr14:68182423-68182434 chr14:68182423-68182436 chr14:68182423-68182436 chr14:68182423-68182434
5	FOS	chr14:68182249-68182579	MCF10A-Er-Src	breast:	n/a	chr14:68182393-68182402 chr14:68182391-68182403
6	EP300	chr14:68182280-68182546	Hela-S3	cervix:	n/a	chr14:68182321-68182335
7	MAFK	chr14:68182180-68182541	K562	blood:	n/a	n/a
8	ARID3A	chr14:68182269-68182664	K562	blood:	n/a	n/a
9	FOS	chr14:68182230-68182573	MCF10A-Er-Src	breast:	n/a	chr14:68182393-68182402 chr14:68182391-68182403
10	RCOR1	chr14:68182295-68182515	Hela-S3	cervix:	n/a	n/a
11	JUND	chr14:68182214-68182565	Hela-S3	cervix:	n/a	chr14:68182393-68182402 chr14:68182391-68182402 chr14:68182391-68182403
12	STAT3	chr14:68182314-68182531	MCF10A-Er-Src	breast:	n/a	chr14:68182319-68182330
13	CEBPB	chr14:68182270-68182646	K562	blood:	n/a	chr14:68182423-68182434 chr14:68182423-68182436 chr14:68182423-68182436 chr14:68182286-68182299 chr14:68182423-68182434
14	RFX5	chr14:68182251-68182493	Hela-S3	cervix:	n/a	n/a
15	FOS	chr14:68182214-68182576	MCF10A-Er-Src	breast:	n/a	chr14:68182393-68182402 chr14:68182391-68182403
16	CEBPB	chr14:68182140-68182628	Hela-S3	cervix:	n/a	chr14:68182423-68182434 chr14:68182423-68182436 chr14:68182423-68182436 chr14:68182286-68182299 chr14:68182423-68182434
17	JUND	chr14:68182106-68182659	SK-N-SH	brain:	n/a	chr14:68182393-68182402 chr14:68182391-68182402 chr14:68182391-68182403

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68181892..68184033-chr14:68190366..68192082,2	K562	blood:
2	chr14:68181604..68183336-chr14:68184866..68187768,3	K562	blood:

Variant related genes	Relation type
RDH12	TF binding region
ENSG00000139988	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10129402	1.00[AMR][1000 genomes]
rs10148493	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148929	1.00[AMR][1000 genomes]
rs10150303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11625247	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11846441	0.86[ASW][hapmap];0.86[LWK][hapmap]
rs12435419	1.00[AMR][1000 genomes]
rs12882546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12894770	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1474796	1.00[ASW][hapmap];0.86[LWK][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1535088	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1955467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1955471	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2092691	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2320030	0.86[ASW][hapmap];0.85[LWK][hapmap]
rs4899223	1.00[ASW][hapmap];0.93[LWK][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902505	0.96[AFR][1000 genomes]
rs4902513	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902515	0.81[AFR][1000 genomes]
rs6573798	1.00[AMR][1000 genomes]
rs7143260	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7147365	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7147404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7157923	0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7159735	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8006137	1.00[AMR][1000 genomes]
rs8011138	0.92[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8017085	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8017290	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68180600-68183000	Weak transcription	HepG2	liver
2	chr14:68181200-68182600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr14:68181400-68182600	Enhancers	Hela-S3	cervix
4	chr14:68181600-68182400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr14:68181600-68183200	Enhancers	K562	blood
6	chr14:68181800-68182800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr14:68181800-68183000	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links