Variant report

Variant	rs553721774
Chromosome Location	chr19:42250505-42250506
allele	A/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	RAD21	chr19:42250356-42251089	A549	lung:	n/a	chr19:42250722-42250741
2	RAD21	chr19:42250502-42250837	H1-hESC	embryonic stem cell:	n/a	chr19:42250722-42250741
3	RAD21	chr19:42250486-42250970	MCF-7	breast:	n/a	chr19:42250722-42250741
4	CTCF	chr19:42250504-42250924	A549	lung:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
5	CTCF	chr19:42250483-42250955	MCF-7	breast:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
6	CTCF	chr19:42250435-42251031	HCT-116	colon:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
7	RAD21	chr19:42250472-42250898	HepG2	liver:	n/a	chr19:42250722-42250741
8	CTCF	chr19:42250460-42250610	HFF-Myc	foreskin:	n/a	n/a
9	CTCF	chr19:42250450-42250937	A549	lung:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
10	RAD21	chr19:42250465-42250972	HCT-116	colon:	n/a	chr19:42250722-42250741
11	CTCF	chr19:42250434-42250992	MCF-7	breast:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
12	RAD21	chr19:42250327-42251032	MCF-7	breast:	n/a	chr19:42250722-42250741
13	CTCF	chr19:42250492-42250867	A549	lung:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
14	CTCF	chr19:42250493-42250906	HepG2	liver:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
15	CTCF	chr19:42249898-42251667	A549	lung:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
16	CTCF	chr19:42250313-42251071	HCT-116	colon:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
17	CTCF	chr19:42250498-42250904	T-47D	breast:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
18	RAD21	chr19:42250431-42251093	SK-N-SH	brain:	n/a	chr19:42250722-42250741
19	CTCF	chr19:42250338-42251101	SK-N-SH	brain:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
20	RAD21	chr19:42250440-42251033	A549	lung:	n/a	chr19:42250722-42250741
21	CTCF	chr19:42250480-42250630	HFF-Myc	foreskin:	n/a	n/a
22	RAD21	chr19:42250492-42250973	ECC-1	luminal epithelium:	n/a	chr19:42250722-42250741

No.	Distal block	Cell Line	Cell type
1	chr19:42212037..42212962-chr19:42250295..42251188,4	MCF-7	breast:
2	chr19:42209137..42209823-chr19:42250235..42251244,3	MCF-7	breast:
3	chr19:42250343..42251080-chr19:42288592..42289100,2	MCF-7	breast:
4	chr19:42211491..42212027-chr19:42250292..42251139,2	K562	blood:
5	chr19:42147964..42148906-chr19:42250000..42251190,4	MCF-7	breast:
6	chr19:42209556..42212105-chr19:42250130..42251602,39	MCF-7	breast:
7	chr19:42210648..42213513-chr19:42249142..42252570,4	MCF-7	breast:
8	chr19:42210533..42211382-chr19:42250275..42251260,3	K562	blood:
9	chr19:42249789..42252137-chr19:42296229..42297905,2	MCF-7	breast:
10	chr19:42238634..42240225-chr19:42250463..42251967,2	MCF-7	breast:
11	chr19:42148303..42148992-chr19:42250108..42251260,4	K562	blood:
12	chr19:42210030..42211723-chr19:42249785..42251642,16	MCF-7	breast:

Variant related genes	Relation type
CEACAM6	TF binding region
ENSG00000267881	Chromatin interaction
ENSG00000007306	Chromatin interaction
ENSG00000105388	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	esv3425986	chr19:42212540-42259719	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv579615	chr19:42221434-42310388	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3430577	chr19:42247653-42285973	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv911774	chr19:42250325-42288821	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42246600-42250600	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr19:42246600-42250800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr19:42246600-42251000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr19:42247000-42251000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr19:42248000-42250600	Enhancers	Fetal Intestine Large	intestine
6	chr19:42248200-42251000	Enhancers	Fetal Intestine Small	intestine
7	chr19:42248400-42250800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr19:42248400-42250800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr19:42249000-42250600	Enhancers	Colonic Mucosa	Colon
10	chr19:42249000-42251200	Enhancers	Stomach Mucosa	stomach
11	chr19:42249400-42251000	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr19:42250200-42250600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
13	chr19:42250200-42250800	Enhancers	Duodenum Mucosa	Duodenum
14	chr19:42250400-42250600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr19:42250400-42250600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:42250400-42250800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr19:42250400-42250800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:42250400-42250800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr19:42250400-42251200	Enhancers	Primary hematopoietic stem cells	blood

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