Variant report

Variant	rs73337744
Chromosome Location	chr5:177015512-177015513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr5:177015321-177015582	K562	blood:	n/a	n/a
2	MYBL2	chr5:177015418-177015985	HepG2	liver:	n/a	n/a
3	BACH1	chr5:177015512-177015739	K562	blood:	n/a	n/a
4	FOXA1	chr5:177015422-177016104	HepG2	liver:	n/a	n/a
5	RXRA	chr5:177015511-177015975	HepG2	liver:	n/a	n/a
6	TBL1XR1	chr5:177015313-177016101	K562	blood:	n/a	n/a
7	FOXA1	chr5:177015430-177016027	HepG2	liver:	n/a	n/a
8	EP300	chr5:177015494-177015958	HepG2	liver:	n/a	n/a
9	KAP1	chr5:177015366-177015982	HEK293	kidney:	n/a	n/a
10	TEAD4	chr5:177015468-177016073	HepG2	liver:	n/a	n/a
11	CUX1	chr5:177015272-177015548	K562	blood:	n/a	n/a
12	FOXA2	chr5:177015460-177016005	HepG2	liver:	n/a	n/a
13	SETDB1	chr5:177015360-177015932	U2OS	brain:	n/a	n/a
14	ATF1	chr5:177015319-177016003	K562	blood:	n/a	n/a
15	FOXA1	chr5:177015428-177016108	HepG2	liver:	n/a	n/a
16	JUND	chr5:177015346-177015921	K562	blood:	n/a	n/a
17	MAZ	chr5:177015508-177015732	K562	blood:	n/a	n/a
18	RCOR1	chr5:177015467-177015837	K562	blood:	n/a	n/a
19	SP1	chr5:177015463-177015938	HepG2	liver:	n/a	n/a
20	RCOR1	chr5:177015475-177015722	K562	blood:	n/a	n/a
21	MAX	chr5:177015445-177015832	K562	blood:	n/a	n/a
22	FOXA2	chr5:177015380-177016292	HepG2	liver:	n/a	n/a
23	MAX	chr5:177015446-177015988	HepG2	liver:	n/a	n/a
24	MYC	chr5:177015469-177015918	K562	blood:	n/a	n/a
25	EGR1	chr5:177015408-177015688	K562	blood:	n/a	n/a
26	EGR1	chr5:177015397-177015799	K562	blood:	n/a	n/a
27	EP300	chr5:177015477-177015859	K562	blood:	n/a	n/a
28	FOXA1	chr5:177015435-177015989	HepG2	liver:	n/a	n/a
29	CBX3	chr5:177015403-177015822	K562	blood:	n/a	n/a
30	RAD21	chr5:177015508-177015793	HepG2	liver:	n/a	n/a
31	HCFC1	chr5:177015511-177015817	K562	blood:	n/a	n/a
32	CTCF	chr5:177015482-177015654	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:177014696..177016221-chr5:177020591..177022587,2	K562	blood:
2	chr5:176977384..176979109-chr5:177015440..177017120,2	K562	blood:
3	chr5:177013361..177016176-chr5:177017373..177019237,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMED9	TF binding region
ENSG00000184840	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs28595585	0.97[EUR][1000 genomes]
rs55646352	0.88[EUR][1000 genomes]
rs55869062	0.94[EUR][1000 genomes]
rs55975666	0.94[EUR][1000 genomes]
rs56190755	0.94[EUR][1000 genomes]
rs56664111	0.94[EUR][1000 genomes]
rs57593509	0.94[EUR][1000 genomes]
rs57960711	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59621415	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59666704	0.84[EUR][1000 genomes]
rs60634107	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61334447	0.94[EUR][1000 genomes]
rs73337753	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73337757	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73337765	0.94[EUR][1000 genomes]
rs73337767	0.94[EUR][1000 genomes]
rs73337782	0.94[EUR][1000 genomes]
rs73337783	0.94[EUR][1000 genomes]
rs73337790	0.94[EUR][1000 genomes]
rs73339755	0.94[EUR][1000 genomes]
rs73339759	0.94[EUR][1000 genomes]
rs73340149	0.83[AFR][1000 genomes]
rs901380	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1022630	chr5:176975746-177028082	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv537966	chr5:176975746-177028082	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv883181	chr5:176978496-177034786	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	esv3348457	chr5:176995395-177020808	Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177014200-177018600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:177015400-177015800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:177015400-177016000	Flanking Active TSS	HepG2	liver
4	chr5:177015400-177016000	Flanking Active TSS	K562	blood
5	chr5:177015400-177016200	Enhancers	Stomach Mucosa	stomach

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