Variant report

Variant	rs4976742
Chromosome Location	chr5:177591816-177591817
allele	C/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	GTF2F1	chr5:177591187-177591944	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr5:177591800-177591950	NHDF-neo	bronchial:	n/a	n/a
3	MAX	chr5:177591032-177591886	MCF-7	breast:	n/a	n/a
4	CTCF	chr5:177590862-177591991	HCT-116	colon:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591167-177591180 chr5:177591350-177591371
5	SIN3A	chr5:177591176-177591882	H1-hESC	embryonic stem cell:	n/a	chr5:177591763-177591772
6	RAD21	chr5:177590977-177591925	HCT-116	colon:	n/a	chr5:177591359-177591373 chr5:177591763-177591777 chr5:177591353-177591372 chr5:177591090-177591100
7	MAX	chr5:177591022-177591825	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTBP2	chr5:177591182-177592291	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr5:177591213-177591830	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr5:177591151-177591939	H1-hESC	embryonic stem cell:	n/a	n/a
11	SMC3	chr5:177591103-177591927	K562	blood:	n/a	chr5:177591470-177591480 chr5:177591357-177591371
12	RAD21	chr5:177590748-177591927	SK-N-SH	brain:	n/a	chr5:177591359-177591373 chr5:177591763-177591777 chr5:177591353-177591372 chr5:177591090-177591100
13	CTCF	chr5:177591680-177591830	GM12867	blood:	n/a	n/a
14	E2F6	chr5:177590987-177591862	H1-hESC	embryonic stem cell:	n/a	n/a
15	TCF12	chr5:177591111-177591937	ECC-1	luminal epithelium:	n/a	chr5:177591760-177591767
16	CTCF	chr5:177590949-177591973	SK-N-SH	brain:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591167-177591180 chr5:177591350-177591371
17	RAD21	chr5:177591029-177591866	H1-hESC	embryonic stem cell:	n/a	chr5:177591359-177591373 chr5:177591763-177591777 chr5:177591353-177591372 chr5:177591090-177591100
18	CHD2	chr5:177591812-177591849	GM12878	blood:	n/a	n/a
19	CTCF	chr5:177590936-177592017	A549	lung:	n/a	chr5:177591355-177591373 chr5:177591357-177591370 chr5:177591356-177591372 chr5:177591167-177591180 chr5:177591350-177591371
20	MYC	chr5:177591147-177592022	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr5:177591804-177591846	GM20000	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:177488715..177489645-chr5:177590973..177591853,2	K562	blood:
2	chr5:177501503..177502236-chr5:177590952..177591862,3	K562	blood:
3	chr5:177502481..177503770-chr5:177590804..177591932,21	MCF-7	breast:
4	chr5:177591354..177594975-chr5:177630282..177634044,5	MCF-7	breast:
5	chr5:177496504..177497535-chr5:177590873..177591843,5	MCF-7	breast:
6	chr5:177502576..177503826-chr5:177590817..177591871,19	K562	blood:
7	chr5:177588875..177592834-chr5:177630545..177633533,4	K562	blood:

Variant related genes	Relation type
ENSG00000251211	TF binding region
ENSG00000197451	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs35085759	0.82[EUR][1000 genomes]
rs4976741	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4976743	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67057675	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][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	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
4	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
5	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv600394	chr5:177549491-177608195	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1017664	chr5:177578194-177633116	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
8	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	106 gene(s)	inside rSNPs	diseases
9	nsv883193	chr5:177591495-177620189	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177591000-177592000	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr5:177591000-177592600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:177591000-177593000	Enhancers	Fetal Heart	heart
4	chr5:177591200-177592000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:177591200-177592000	Bivalent Enhancer	Fetal Stomach	stomach
6	chr5:177591400-177592000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr5:177591400-177592000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr5:177591400-177592000	Bivalent Enhancer	Placenta	Placenta
9	chr5:177591400-177594800	Weak transcription	Right Atrium	heart
10	chr5:177591600-177592000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:177591600-177592000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:177591600-177592000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
13	chr5:177591600-177593200	Weak transcription	Esophagus	oesophagus
14	chr5:177591800-177592000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr5:177591800-177592000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr5:177591800-177592000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr5:177591800-177592000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
18	chr5:177591800-177592000	Bivalent Enhancer	HepG2	liver
19	chr5:177591800-177592000	Enhancers	K562	blood
20	chr5:177591800-177592800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:177591800-177593000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:177591800-177597800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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