Variant report

Variant	rs2896522
Chromosome Location	chr11:18284389-18284390
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr11:18284265-18284663	HepG2	liver:	n/a	n/a
2	REST	chr11:18284243-18284653	H1-hESC	embryonic stem cell:	n/a	n/a
3	TEAD4	chr11:18284063-18284833	HepG2	liver:	n/a	n/a
4	STAT3	chr11:18284264-18284684	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr11:18284356-18284599	HepG2	liver:	n/a	n/a
6	EP300	chr11:18284294-18284500	H1-hESC	embryonic stem cell:	n/a	n/a
7	HNF4G	chr11:18284288-18284539	HepG2	liver:	n/a	n/a
8	TCF12	chr11:18284285-18284526	H1-hESC	embryonic stem cell:	n/a	n/a
9	SMC3	chr11:18284301-18284500	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr11:18284294-18284466	MCF10A-Er-Src	breast:	n/a	n/a
11	RCOR1	chr11:18284301-18284619	Hela-S3	cervix:	n/a	n/a
12	JUND	chr11:18284373-18284442	H1-hESC	embryonic stem cell:	n/a	n/a
13	RCOR1	chr11:18284371-18284497	HepG2	liver:	n/a	n/a
14	SP1	chr11:18284254-18284607	H1-hESC	embryonic stem cell:	n/a	chr11:18284425-18284436
15	REST	chr11:18284177-18284556	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr11:18283902-18284810	H1-hESC	embryonic stem cell:	n/a	n/a
17	SP1	chr11:18284225-18284524	H1-hESC	embryonic stem cell:	n/a	chr11:18284425-18284436
18	ARID3A	chr11:18284352-18284561	HepG2	liver:	n/a	n/a
19	YY1	chr11:18284201-18284534	H1-hESC	embryonic stem cell:	n/a	n/a
20	RXRA	chr11:18284375-18284741	HepG2	liver:	n/a	n/a
21	CEBPB	chr11:18284294-18284895	Hela-S3	cervix:	n/a	chr11:18284695-18284706
22	POLR2A	chr11:18284241-18284486	H1-hESC	embryonic stem cell:	n/a	n/a
23	SP1	chr11:18284160-18284868	HepG2	liver:	n/a	chr11:18284425-18284436
24	NANOG	chr11:18284281-18284502	H1-hESC	embryonic stem cell:	n/a	n/a
25	TEAD4	chr11:18284164-18284730	H1-hESC	embryonic stem cell:	n/a	n/a
26	RXRA	chr11:18284178-18284703	HepG2	liver:	n/a	n/a
27	TEAD4	chr11:18284168-18284693	H1-hESC	embryonic stem cell:	n/a	n/a
28	NFIC	chr11:18284265-18284485	HepG2	liver:	n/a	n/a
29	TEAD4	chr11:18284214-18284618	HepG2	liver:	n/a	n/a
30	HNF4G	chr11:18284275-18284558	HepG2	liver:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:18283937..18286938-chr13:37573373..37575594,3	MCF-7	breast:

No data

Variant related genes	Relation type
SAA1	TF binding region
RNA5SP334	TF binding region
ENSG00000120697	Chromatin interaction
ENSG00000120699	Chromatin interaction

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

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

rs_ID	r²[population]
rs10832912	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832913	0.81[ASN][1000 genomes]
rs11024585	0.91[ASN][1000 genomes]
rs11024592	0.81[ASN][1000 genomes]
rs4638289	0.81[ASN][1000 genomes]
rs7112278	0.81[ASN][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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv428569	chr11:18194030-18350869	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv975157	chr11:18282114-18285015	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18278400-18293200	Weak transcription	Aorta	Aorta
2	chr11:18280400-18286200	Enhancers	HepG2	liver
3	chr11:18281400-18289400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:18282000-18285000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:18282000-18286600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:18283400-18284400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:18283400-18284600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:18283600-18285200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:18283600-18291000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:18283600-18301600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:18283800-18286800	Weak transcription	Adipose Nuclei	Adipose
12	chr11:18284000-18284600	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr11:18284200-18284400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:18284200-18284400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr11:18284200-18284400	Enhancers	Liver	Liver
16	chr11:18284200-18284400	Enhancers	Hela-S3	cervix
17	chr11:18284200-18285800	Enhancers	HSMMtube	muscle

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