Variant report

Variant	rs73558835
Chromosome Location	chr19:51978646-51978647
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	FOS	chr19:51978360-51978672	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr19:51978337-51978680	A549	lung:	n/a	n/a
3	FOXA2	chr19:51977953-51979027	HepG2	liver:	n/a	n/a
4	JUN	chr19:51978318-51978717	HepG2	liver:	n/a	n/a
5	JUND	chr19:51978227-51978707	HepG2	liver:	n/a	chr19:51978498-51978509
6	HNF4G	chr19:51978408-51978774	HepG2	liver:	n/a	chr19:51978591-51978606
7	FOXA1	chr19:51978265-51978806	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:51978222-51980018	K562	blood:	n/a	n/a
9	EP300	chr19:51978387-51978806	HepG2	liver:	n/a	n/a
10	MAZ	chr19:51978384-51978738	HepG2	liver:	n/a	n/a
11	CEBPB	chr19:51978370-51978710	HCT-116	colon:	n/a	n/a
12	CEBPB	chr19:51978462-51978704	MCF-7	breast:	n/a	n/a
13	SMC3	chr19:51978264-51978733	HepG2	liver:	n/a	n/a
14	HNF4A	chr19:51978385-51978747	HepG2	liver:	n/a	chr19:51978592-51978607
15	ARID3A	chr19:51978153-51978820	HepG2	liver:	n/a	n/a
16	FOSL2	chr19:51978314-51978649	A549	lung:	n/a	n/a
17	CEBPB	chr19:51978312-51978877	A549	lung:	n/a	n/a
18	FOS	chr19:51978344-51978762	HUVEC	blood vessel:	n/a	n/a
19	CEBPB	chr19:51978350-51978709	Hela-S3	cervix:	n/a	n/a
20	FOXA2	chr19:51978383-51978788	HepG2	liver:	n/a	n/a
21	FOXA1	chr19:51978284-51978902	HepG2	liver:	n/a	n/a
22	FOXA1	chr19:51978249-51978801	HepG2	liver:	n/a	n/a
23	FOSL2	chr19:51978277-51978769	HepG2	liver:	n/a	n/a
24	GATA3	chr19:51978177-51978769	A549	lung:	n/a	n/a
25	FOXA1	chr19:51978314-51978803	HepG2	liver:	n/a	n/a
26	CEBPB	chr19:51978358-51978714	HepG2	liver:	n/a	n/a
27	FOSL2	chr19:51978168-51978799	A549	lung:	n/a	n/a
28	JUND	chr19:51978481-51978720	HepG2	liver:	n/a	chr19:51978498-51978509
29	GATA2	chr19:51978273-51978813	HUVEC	blood vessel:	n/a	n/a
30	CEBPB	chr19:51978332-51978701	A549	lung:	n/a	n/a
31	TEAD4	chr19:51978230-51978742	HepG2	liver:	n/a	n/a
32	HNF4A	chr19:51978456-51978774	HepG2	liver:	n/a	chr19:51978592-51978607
33	FOXA2	chr19:51978253-51978886	A549	lung:	n/a	n/a
34	FOXA2	chr19:51978225-51978835	A549	lung:	n/a	n/a
35	JUN	chr19:51978323-51978657	Hela-S3	cervix:	n/a	n/a
36	ZBTB7A	chr19:51978451-51978647	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51970891..51972816-chr19:51977892..51980633,2	K562	blood:

Variant related genes	Relation type
CEACAM18	TF binding region
ENSG00000268957	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs36501	0.93[EUR][1000 genomes]
rs73558833	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558844	0.86[EUR][1000 genomes]
rs73558846	0.86[EUR][1000 genomes]
rs73558851	0.86[EUR][1000 genomes]
rs73558859	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51975800-51981600	Enhancers	Fetal Intestine Small	intestine
2	chr19:51975800-51981800	Enhancers	Fetal Intestine Large	intestine
3	chr19:51976600-51979200	Enhancers	HepG2	liver
4	chr19:51978000-51978800	Enhancers	NHEK	skin
5	chr19:51978000-51979000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:51978000-51980400	Weak transcription	K562	blood
7	chr19:51978400-51979600	Enhancers	Stomach Mucosa	stomach
8	chr19:51978400-51981400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr19:51978600-51978800	Active TSS	A549	lung

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