Variant report

Variant	rs55942321
Chromosome Location	chr14:35103696-35103697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:35103537-35103778	K562	blood:	n/a	n/a
2	ZNF384	chr14:35103367-35104144	K562	blood:	n/a	n/a
3	EP300	chr14:35103407-35103975	K562	blood:	n/a	n/a
4	GTF3C2	chr14:35103492-35103781	Hela-S3	cervix:	n/a	n/a
5	GATA2	chr14:35103556-35103918	K562	blood:	n/a	n/a
6	MAX	chr14:35103321-35103773	HCT-116	colon:	n/a	n/a
7	USF2	chr14:35103494-35103733	Hela-S3	cervix:	n/a	n/a
8	MAX	chr14:35103459-35103909	K562	blood:	n/a	n/a
9	CEBPB	chr14:35103470-35103768	Hela-S3	cervix:	n/a	n/a
10	RCOR1	chr14:35103617-35104039	K562	blood:	n/a	n/a
11	MYC	chr14:35103665-35103715	K562	blood:	n/a	n/a
12	TEAD4	chr14:35103567-35103884	K562	blood:	n/a	n/a
13	MAX	chr14:35103496-35103878	K562	blood:	n/a	n/a
14	JUND	chr14:35103616-35103915	K562	blood:	n/a	n/a
15	UBTF	chr14:35103674-35103874	K562	blood:	n/a	n/a
16	MYC	chr14:35103476-35103855	K562	blood:	n/a	n/a
17	NR2F2	chr14:35103499-35103901	K562	blood:	n/a	n/a
18	NR2F2	chr14:35103542-35103905	K562	blood:	n/a	n/a
19	HDAC2	chr14:35103504-35103777	K562	blood:	n/a	n/a
20	TEAD4	chr14:35103521-35103997	K562	blood:	n/a	n/a
21	E2F6	chr14:35103565-35103784	K562	blood:	n/a	n/a
22	MAZ	chr14:35103680-35104031	K562	blood:	n/a	n/a
23	MAX	chr14:35103500-35103699	Hela-S3	cervix:	n/a	n/a
24	TAL1	chr14:35103616-35103920	K562	blood:	n/a	n/a
25	CEBPB	chr14:35103532-35103836	K562	blood:	n/a	n/a
26	MAX	chr14:35103501-35103799	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35101583..35104569-chr14:35180273..35182776,2	K562	blood:
2	chr14:35098574..35101295-chr14:35102833..35104889,3	MCF-7	breast:
3	chr14:35098892..35100934-chr14:35102376..35104733,3	K562	blood:

No data

Variant related genes	Relation type
SNX6	TF binding region
ENSG00000129515	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12433842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4982193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56020528	0.92[EUR][1000 genomes]
rs56310586	1.00[EUR][1000 genomes]
rs72675262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72675270	1.00[EUR][1000 genomes]
rs72675276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72675277	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1038360	chr14:35040853-35152886	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv3408652	chr14:35069966-35110821	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv523334	chr14:35075022-35131862	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv1237	chr14:35101202-35129546	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv901601	chr14:35101785-35131862	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr14:35099800-35104000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:35100000-35103800	Weak transcription	NHLF	lung
3	chr14:35103000-35104400	Enhancers	Hela-S3	cervix
4	chr14:35103000-35104400	Enhancers	K562	blood
5	chr14:35103200-35103800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr14:35103200-35104000	Enhancers	Duodenum Mucosa	Duodenum
7	chr14:35103200-35104400	Enhancers	A549	lung

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