Variant report

Variant	rs74015067
Chromosome Location	chr16:31111634-31111635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr16:31111538-31111899	K562	blood:	n/a	n/a
2	FOS	chr16:31111568-31111907	MCF10A-Er-Src	breast:	n/a	n/a
3	KAP1	chr16:31111253-31111842	HEK293	kidney:	n/a	n/a
4	FOXA2	chr16:31111596-31112063	A549	lung:	n/a	n/a
5	FOXA1	chr16:31111478-31111954	HepG2	liver:	n/a	n/a
6	FOS	chr16:31111556-31111917	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr16:31111568-31111904	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr16:31111596-31111896	K562	blood:	n/a	n/a
9	FOXA1	chr16:31111452-31111960	HepG2	liver:	n/a	n/a
10	EGR1	chr16:31111555-31111858	K562	blood:	n/a	n/a
11	FOXA1	chr16:31111513-31111982	HepG2	liver:	n/a	n/a
12	BHLHE40	chr16:31111586-31111899	K562	blood:	n/a	n/a
13	RCOR1	chr16:31111582-31111936	K562	blood:	n/a	n/a
14	CBX3	chr16:31111146-31111947	K562	blood:	n/a	n/a
15	EGR1	chr16:31111537-31111802	K562	blood:	n/a	n/a
16	FOS	chr16:31111623-31111941	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr16:31103667-31119079	K562	blood:	n/a	n/a
18	FOSL2	chr16:31111571-31111946	HepG2	liver:	n/a	n/a
19	REST	chr16:31111545-31111914	PFSK-1	brain:	n/a	n/a
20	JUND	chr16:31111594-31111900	HepG2	liver:	n/a	chr16:31111739-31111750
21	FOS	chr16:31111568-31111890	MCF10A-Er-Src	breast:	n/a	n/a
22	MAFK	chr16:31111620-31111882	K562	blood:	n/a	n/a
23	FOXA1	chr16:31111520-31111880	HepG2	liver:	n/a	n/a
24	TBL1XR1	chr16:31111611-31111900	K562	blood:	n/a	n/a
25	FOXA2	chr16:31111569-31112025	A549	lung:	n/a	n/a
26	KAP1	chr16:31111298-31111836	U2OS	brain:	n/a	n/a
27	FOXA2	chr16:31111570-31111866	HepG2	liver:	n/a	n/a
28	JUND	chr16:31111575-31111921	K562	blood:	n/a	chr16:31111739-31111750

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:31111355..31114161-chr16:31122572..31125322,2	K562	blood:
2	chr16:31109918..31113931-chr16:31122507..31126831,4	MCF-7	breast:
3	chr16:31109802..31112036-chr16:31115940..31118854,2	K562	blood:

No data

Variant related genes	Relation type
VKORC1	TF binding region
ENSG00000103507	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs41371846	1.00[AMR][1000 genomes]
rs41520646	1.00[AMR][1000 genomes]
rs55794634	1.00[AMR][1000 genomes]
rs56751167	1.00[AMR][1000 genomes]
rs57483806	1.00[AMR][1000 genomes]
rs58114676	1.00[AMR][1000 genomes]
rs61417139	1.00[AMR][1000 genomes]
rs74015052	1.00[AMR][1000 genomes]
rs74015064	1.00[AMR][1000 genomes]
rs74015073	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015088	1.00[AMR][1000 genomes]
rs74015098	1.00[AMR][1000 genomes]
rs74015100	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
4	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
11	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription 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	202 gene(s)	inside rSNPs	diseases
13	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
14	nsv905743	chr16:31111064-31129942	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31106800-31117200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr16:31107400-31117200	Weak transcription	NHLF	lung
3	chr16:31110000-31111800	Weak transcription	Osteobl	bone
4	chr16:31111200-31111800	Enhancers	NH-A	brain
5	chr16:31111200-31112600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr16:31111200-31112800	Enhancers	K562	blood
7	chr16:31111400-31112400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:31111400-31112400	Enhancers	HepG2	liver
9	chr16:31111600-31111800	ZNF genes & repeats	Esophagus	oesophagus
10	chr16:31111600-31112000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr16:31111600-31112000	Enhancers	HMEC	breast

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