Variant report

Variant	rs45614132
Chromosome Location	chr19:42212622-42212623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42212489-42212698	MCF-7	breast:	n/a	n/a
2	POLR2A	chr19:42212379-42212705	MCF-7	breast:	n/a	n/a
3	USF1	chr19:42212251-42212730	HCT-116	colon:	n/a	n/a
4	USF1	chr19:42212362-42212646	A549	lung:	n/a	n/a
5	USF1	chr19:42212421-42212641	ECC-1	luminal epithelium:	n/a	n/a
6	ZNF263	chr19:42212358-42212874	HEK293-T-REx	kidney:	n/a	chr19:42212742-42212751
7	POLR2A	chr19:42212454-42212719	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42212594-42212644	HCM	heart:	n/a
2	chr19:42212594-42212644	IMR90	lung:	fetal
3	chr19:42212594-42212644	HNPCEpiC	eye:	n/a
4	chr19:42212594-42212644	HepG2	liver:	n/a
5	chr19:42212594-42212644	HRCEpiC	kidney:	n/a
6	chr19:42212594-42212644	U87	brain:	n/a
7	chr19:42212594-42212644	MCF10A-Er-Src	breast:	n/a
8	chr19:42212594-42212644	HRPEpiC	eye:	n/a
9	chr19:42212594-42212644	BJ	skin:	n/a
10	chr19:42212594-42212644	HL-60	blood:	n/a
11	chr19:42212594-42212644	NHBE	bronchial:	n/a
12	chr19:42212594-42212644	SK-N-MC	brain:	n/a
13	chr19:42212594-42212644	RPTEC	kidney:	n/a
14	chr19:42212594-42212644	Jurkat	blood:	n/a
15	chr19:42212594-42212644	ovcar-3	ovarian:	n/a
16	chr19:42212594-42212644	GM06990	blood:	n/a
17	chr19:42212594-42212644	ProgFib	skin:	n/a
18	chr19:42212594-42212644	T-47D	breast:	n/a
19	chr19:42212594-42212644	SKMC	muscle:	n/a
20	chr19:42212594-42212644	ECC-1	luminal epithelium:	n/a
21	chr19:42212594-42212644	NH-A	brain:	n/a
22	chr19:42212594-42212644	GM19239	blood:	n/a
23	chr19:42212594-42212644	Caco-2	colon:	n/a
24	chr19:42212594-42212644	H1-hESC	embryonic stem cell:	embryo
25	chr19:42212594-42212644	AG10803	skin:	n/a
26	chr19:42212594-42212644	Hepatocyte	liver:	n/a
27	chr19:42212594-42212644	HEK293	kidney:	embryo
28	chr19:42212594-42212644	Hela-S3	cervix:	n/a
29	chr19:42212594-42212644	SK-N-SH	brain:	n/a
30	chr19:42212594-42212644	NHDF-neo	bronchial:	n/a
31	chr19:42212594-42212644	HAEpiC	amniotic membrane:	n/a
32	chr19:42212594-42212644	NT2-D1	testis:	n/a
33	chr19:42212594-42212644	AG04450	lung:	fetal
34	chr19:42212594-42212644	LNCaP	prostate:	n/a
35	chr19:42212594-42212644	GM12891	blood:	n/a
36	chr19:42212594-42212644	AG09319	gingival:	n/a
37	chr19:42212594-42212644	A549	lung:	n/a
38	chr19:42212594-42212644	HUVEC	blood vessel:	n/a
39	chr19:42212594-42212644	HRE	kidney:	n/a
40	chr19:42212594-42212644	CMK	blood:	n/a
41	chr19:42212594-42212644	GM12878	blood:	n/a
42	chr19:42212594-42212644	HMEC	breast:	n/a
43	chr19:42212594-42212644	MCF-7	breast:	n/a
44	chr19:42212594-42212644	HEEpiC	esophagus:	n/a
45	chr19:42212594-42212644	PrEC	prostate:	n/a
46	chr19:42212594-42212644	HPAEpiC	pulmonary alveolar:	n/a
47	chr19:42212594-42212644	AG09309	skin:	n/a
48	chr19:42212594-42212644	HCF	heart:	n/a
49	chr19:42212594-42212644	PANC-1	pancreas:	n/a
50	chr19:42212594-42212644	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42211076..42212814-chr19:42288522..42291440,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEACAM6-1	chr19:42212540-42212714	NONHSAT066483

No data

Variant related genes	Relation type
CEACAM7	TF binding region
CEACAM5	TF binding region
CEACAM5	CpG island
CEACAM7	CpG island
ENSG00000268833	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3422975	chr19:42106166-42212774	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	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
5	nsv1061309	chr19:42187716-42228445	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv978820	chr19:42212524-42214379	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv482220	chr19:42212530-42234436	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42211000-42214200	Active TSS	Rectal Smooth Muscle	rectum
2	chr19:42212000-42216200	Active TSS	Esophagus	oesophagus
3	chr19:42212000-42222800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:42212400-42213200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
5	chr19:42212400-42213800	Active TSS	Colonic Mucosa	Colon
6	chr19:42212400-42214400	Active TSS	Stomach Mucosa	stomach
7	chr19:42212600-42212800	Enhancers	Fetal Intestine Large	intestine
8	chr19:42212600-42212800	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr19:42212600-42212800	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
10	chr19:42212600-42214000	Active TSS	Small Intestine	intestine
11	chr19:42212600-42215200	Active TSS	Fetal Intestine Small	intestine

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