Variant report

Variant	rs577812454
Chromosome Location	chr19:42250641-42250642
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	CTCF	chr19:42250641-42250868	MCF-7	breast:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
3	CTCF	chr19:42250591-42250889	GM12878	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
4	RAD21	chr19:42250579-42250800	H1-hESC	embryonic stem cell:	n/a	chr19:42250722-42250741
5	CTCF	chr19:42250620-42250770	GM12872	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
6	SMC3	chr19:42250543-42250920	Hela-S3	cervix:	n/a	chr19:42250726-42250740
7	CTCF	chr19:42250600-42250750	HEEpiC	esophagus:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
8	SMC3	chr19:42250599-42250852	K562	blood:	n/a	chr19:42250726-42250740
9	CTCF	chr19:42250640-42250790	HRPEpiC	eye:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
10	CTCF	chr19:42250517-42250860	A549	lung:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
11	CTCF	chr19:42250640-42250790	AG09319	gingival:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
12	CTCF	chr19:42250640-42250790	WERI-Rb-1	eye:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
13	CTCF	chr19:42250523-42250902	ECC-1	luminal epithelium:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
14	CTCF	chr19:42250613-42250883	K562	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
15	CTCF	chr19:42250569-42250881	HepG2	liver:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
16	CTCF	chr19:42250620-42250770	HRE	kidney:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
17	CTCF	chr19:42250556-42250923	K562	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
18	RAD21	chr19:42250556-42250908	HepG2	liver:	n/a	chr19:42250722-42250741
19	CTCF	chr19:42250629-42250848	ProgFib	skin:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
20	CTCF	chr19:42250641-42250855	Fibrobl	skin:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
21	RAD21	chr19:42250502-42250837	H1-hESC	embryonic stem cell:	n/a	chr19:42250722-42250741
22	ELK1	chr19:42250616-42250790	K562	blood:	n/a	n/a
23	CTCF	chr19:42250618-42250869	GM19240	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
24	CTCF	chr19:42250640-42250790	GM12873	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
25	CTCF	chr19:42250640-42250790	K562	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
26	RAD21	chr19:42250573-42250922	SK-N-SH_RA	brain:	n/a	chr19:42250722-42250741
27	SMC3	chr19:42250590-42250901	GM12878	blood:	n/a	chr19:42250726-42250740
28	RAD21	chr19:42250520-42250797	GM12878	blood:	n/a	chr19:42250722-42250741
29	CTCF	chr19:42250588-42250838	Spleen_OC	spleen:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
30	CTCF	chr19:42250614-42250852	Hela-S3	cervix:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
31	CTCF	chr19:42250640-42250790	HCFaa	heart:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
32	CTCF	chr19:42250640-42250870	GM12867	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
33	CTCF	chr19:42250612-42250851	Pancreas_OC	pancreas:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
34	CTCF	chr19:42250623-42250850	LNCaP	prostate:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
35	CTCF	chr19:42250614-42250851	HUVEC	blood vessel:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
36	RCOR1	chr19:42250589-42250789	K562	blood:	n/a	n/a
37	RAD21	chr19:42250553-42250911	A549	lung:	n/a	chr19:42250722-42250741
38	CTCF	chr19:42250631-42250847	HepG2	liver:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
39	CTCF	chr19:42250620-42250770	AG10803	skin:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
40	RAD21	chr19:42250578-42250806	K562	blood:	n/a	chr19:42250722-42250741
41	RAD21	chr19:42250486-42250970	MCF-7	breast:	n/a	chr19:42250722-42250741
42	RAD21	chr19:42250559-42250910	IMR90	lung:	n/a	chr19:42250722-42250741
43	RAD21	chr19:42250539-42250894	GM12878	blood:	n/a	chr19:42250722-42250741
44	CTCF	chr19:42250504-42250924	A549	lung:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
45	CTCF	chr19:42250640-42250790	GM12866	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
46	CTCF	chr19:42250483-42250955	MCF-7	breast:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
47	RAD21	chr19:42250528-42250954	ECC-1	luminal epithelium:	n/a	chr19:42250722-42250741
48	CTCF	chr19:42250627-42250886	GM12892	blood:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
49	CTCF	chr19:42250640-42250790	HMEC	breast:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
50	ZNF143	chr19:42250634-42250712	Hela-S3	cervix:	n/a	n/a

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
ENSG00000105388	Chromatin interaction
ENSG00000007306	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42246600-42250800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:42246600-42251000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr19:42247000-42251000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:42248200-42251000	Enhancers	Fetal Intestine Small	intestine
5	chr19:42248400-42250800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr19:42248400-42250800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr19:42249000-42251200	Enhancers	Stomach Mucosa	stomach
8	chr19:42249400-42251000	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr19:42250200-42250800	Enhancers	Duodenum Mucosa	Duodenum
10	chr19:42250400-42250800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr19:42250400-42250800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr19:42250400-42250800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
13	chr19:42250400-42251200	Enhancers	Primary hematopoietic stem cells	blood
14	chr19:42250600-42250800	Bivalent Enhancer	Primary T cells from cord blood	blood
15	chr19:42250600-42250800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
16	chr19:42250600-42250800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
17	chr19:42250600-42251000	Bivalent Enhancer	Primary B cells from cord blood	blood
18	chr19:42250600-42251000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:42250600-42251000	Bivalent Enhancer	A549	lung
20	chr19:42250600-42252400	Weak transcription	Colonic Mucosa	Colon

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