Variant report

Variant	rs1689722
Chromosome Location	chr5:1881566-1881567
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	POLR2A	chr5:1881460-1881668	H1-hESC	embryonic stem cell:	n/a	n/a
2	EGR1	chr5:1881148-1881740	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr5:1881470-1882532	H1-hESC	embryonic stem cell:	n/a	chr5:1882349-1882358 chr5:1882349-1882358 chr5:1882351-1882360 chr5:1882349-1882358
4	TCF12	chr5:1881081-1881604	H1-hESC	embryonic stem cell:	n/a	chr5:1881273-1881283
5	CTBP2	chr5:1880471-1882435	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:1881479-1881780	MCF-7	breast:	n/a	n/a
7	MAX	chr5:1881127-1883194	H1-hESC	embryonic stem cell:	n/a	chr5:1882349-1882358 chr5:1882349-1882358 chr5:1882351-1882360 chr5:1882349-1882358
8	EGR1	chr5:1881370-1881653	K562	blood:	n/a	n/a
9	ELF1	chr5:1881411-1881688	K562	blood:	n/a	chr5:1881548-1881561
10	POLR2A	chr5:1881461-1881664	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr5:1881528-1881576	MCF10A-Er-Src	breast:	n/a	n/a
12	TCF7L2	chr5:1881462-1882380	HCT-116	colon:	n/a	n/a
13	GTF2F1	chr5:1881526-1881726	H1-hESC	embryonic stem cell:	n/a	n/a
14	YY1	chr5:1881101-1881835	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr5:1881155-1883265	H1-hESC	embryonic stem cell:	n/a	chr5:1882349-1882358 chr5:1882349-1882358 chr5:1882351-1882360 chr5:1882349-1882358
16	E2F6	chr5:1881272-1882651	H1-hESC	embryonic stem cell:	n/a	chr5:1882416-1882427 chr5:1882410-1882425 chr5:1881643-1881650 chr5:1881643-1881650 chr5:1882417-1882427 chr5:1882415-1882426 chr5:1881643-1881650 chr5:1882245-1882254 chr5:1882411-1882425
17	STAT3	chr5:1881520-1881696	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F6	chr5:1881274-1883118	H1-hESC	embryonic stem cell:	n/a	chr5:1882416-1882427 chr5:1882410-1882425 chr5:1881643-1881650 chr5:1881643-1881650 chr5:1882417-1882427 chr5:1882415-1882426 chr5:1881643-1881650 chr5:1882245-1882254 chr5:1882411-1882425
19	MAX	chr5:1881264-1884334	HCT-116	colon:	n/a	chr5:1882349-1882358 chr5:1882349-1882358 chr5:1882351-1882360 chr5:1884034-1884044 chr5:1882349-1882358
20	STAT3	chr5:1881469-1881741	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr5:1881552-1881807	MCF-7	breast:	n/a	n/a
22	ZNF143	chr5:1881132-1881694	H1-hESC	embryonic stem cell:	n/a	chr5:1881275-1881293
23	FOS	chr5:1881422-1881719	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr5:1881436-1881739	HCT-116	colon:	n/a	n/a
25	E2F6	chr5:1881516-1881701	K562	blood:	n/a	chr5:1881643-1881650 chr5:1881643-1881650 chr5:1881643-1881650
26	FOS	chr5:1881410-1881719	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr5:1881409-1881711	MCF10A-Er-Src	breast:	n/a	n/a
28	MAX	chr5:1881356-1884611	HCT-116	colon:	n/a	chr5:1882349-1882358 chr5:1882349-1882358 chr5:1882351-1882360 chr5:1884034-1884044 chr5:1882349-1882358
29	SP1	chr5:1881076-1881607	H1-hESC	embryonic stem cell:	n/a	chr5:1881467-1881478 chr5:1881451-1881462 chr5:1881434-1881445 chr5:1881402-1881413
30	CHD2	chr5:1881242-1881816	H1-hESC	embryonic stem cell:	n/a	n/a
31	YY1	chr5:1881188-1881648	H1-hESC	embryonic stem cell:	n/a	n/a
32	SP1	chr5:1881100-1881800	H1-hESC	embryonic stem cell:	n/a	chr5:1881742-1881751 chr5:1881742-1881752 chr5:1881467-1881478 chr5:1881738-1881752 chr5:1881451-1881462 chr5:1881748-1881757 chr5:1881434-1881445 chr5:1881748-1881758 chr5:1881402-1881413 chr5:1881741-1881753 chr5:1881744-1881758
33	POLR2A	chr5:1881359-1883606	HCT-116	colon:	n/a	n/a
34	E2F4	chr5:1881463-1881720	MCF10A-Er-Src	breast:	n/a	chr5:1881643-1881650 chr5:1881643-1881650 chr5:1881643-1881650
35	BACH1	chr5:1881247-1881808	H1-hESC	embryonic stem cell:	n/a	n/a
36	FOS	chr5:1881422-1881685	MCF10A-Er-Src	breast:	n/a	n/a
37	SIN3A	chr5:1881138-1882188	H1-hESC	embryonic stem cell:	n/a	chr5:1881798-1881811
38	EGR1	chr5:1881374-1881641	K562	blood:	n/a	n/a
39	JUND	chr5:1881424-1881608	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr5:1881270-1881902	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr5:1881513-1881752	H1-hESC	embryonic stem cell:	n/a	n/a
42	JUND	chr5:1881345-1881657	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr5:1881481-1891348	MCF10A-Er-Src	breast:	n/a	n/a
44	JUND	chr5:1881387-1881701	K562	blood:	n/a	n/a
45	STAT3	chr5:1881479-1881696	MCF10A-Er-Src	breast:	n/a	n/a
46	EGR1	chr5:1881100-1881710	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr5:1881471-1884378	HCT-116	colon:	n/a	n/a
48	MAZ	chr5:1881337-1881657	K562	blood:	n/a	n/a
49	EP300	chr5:1881186-1881727	H1-hESC	embryonic stem cell:	n/a	chr5:1881226-1881235

No.	Distal block	Cell Line	Cell type
1	chr5:1793765..1806799-chr5:1879445..1889322,45	MCF-7	breast:
2	chr5:1799841..1802509-chr5:1881368..1882987,2	K562	blood:
3	chr17:57923026..57925305-chr5:1880876..1883150,2	MCF-7	breast:
4	chr5:1796457..1805482-chr5:1878036..1885786,21	MCF-7	breast:
5	chr5:1881475..1885354-chr5:1933918..1938503,4	MCF-7	breast:
6	chr5:1798942..1801341-chr5:1879541..1882987,3	K562	blood:

Variant related genes	Relation type
IRX4	TF binding region
ENSG00000249116	TF binding region
ENSG00000201524	Chromatin interaction
ENSG00000171421	Chromatin interaction
ENSG00000145494	Chromatin interaction
ENSG00000248994	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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	nsv933805	chr5:1450724-1941619	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv817407	chr5:1495354-2191460	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
3	nsv869236	chr5:1719263-2259100	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
4	nsv881619	chr5:1822326-1886471	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv881557	chr5:1822326-1932463	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv596892	chr5:1832240-1892759	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1019713	chr5:1833072-1884738	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv596893	chr5:1839498-1892759	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1018082	chr5:1849721-1884738	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv881470	chr5:1850563-1892759	Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv881188	chr5:1852284-1892759	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv822962	chr5:1877770-1888630	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv16732	chr5:1880874-1883019	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
14	nsv880886	chr5:1880891-1936443	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr5:1876600-1882400	Weak transcription	Right Atrium	heart
2	chr5:1877200-1881600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:1877200-1881600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:1877200-1881600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:1878400-1881600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:1878600-1883000	Enhancers	Fetal Heart	heart
7	chr5:1879800-1885200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr5:1880400-1882200	Weak transcription	Pancreas	Pancrea
9	chr5:1880600-1881600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
10	chr5:1880600-1881600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:1880800-1881600	Weak transcription	NHEK	skin
12	chr5:1880800-1881800	Weak transcription	Right Ventricle	heart
13	chr5:1880800-1882800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:1880800-1887800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr5:1881200-1881600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr5:1881200-1881600	Weak transcription	HMEC	breast
17	chr5:1881200-1885200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr5:1881400-1882000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:1881400-1882200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
20	chr5:1881400-1882400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:1881400-1884400	Bivalent Enhancer	Fetal Brain Male	brain
22	chr5:1881400-1886800	Bivalent Enhancer	Fetal Stomach	stomach

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