Variant report

Variant	rs550897851
Chromosome Location	chr19:42212526-42212527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 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	USF2	chr19:42212394-42212574	Hela-S3	cervix:	n/a	n/a
4	USF1	chr19:42212251-42212730	HCT-116	colon:	n/a	n/a
5	USF1	chr19:42212362-42212646	A549	lung:	n/a	n/a
6	USF1	chr19:42212421-42212641	ECC-1	luminal epithelium:	n/a	n/a
7	ZNF263	chr19:42212358-42212874	HEK293-T-REx	kidney:	n/a	chr19:42212742-42212751
8	POLR2A	chr19:42212454-42212719	MCF-7	breast:	n/a	n/a
9	USF1	chr19:42212352-42212573	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42212501-42212551	PrEC	prostate:	n/a
2	chr19:42212501-42212551	CMK	blood:	n/a
3	chr19:42212501-42212551	BJ	skin:	n/a
4	chr19:42212501-42212551	ProgFib	skin:	n/a
5	chr19:42212501-42212551	HPAEpiC	pulmonary alveolar:	n/a
6	chr19:42212501-42212551	HCF	heart:	n/a
7	chr19:42212501-42212551	HNPCEpiC	eye:	n/a
8	chr19:42212501-42212551	GM12891	blood:	n/a
9	chr19:42212501-42212551	HRPEpiC	eye:	n/a
10	chr19:42212501-42212551	HIPEpiC	eye:	n/a
11	chr19:42212501-42212551	SK-N-SH_RA	brain:	n/a
12	chr19:42212501-42212551	PFSK-1	brain:	n/a
13	chr19:42212501-42212551	ovcar-3	ovarian:	n/a
14	chr19:42212501-42212551	SK-N-MC	brain:	n/a
15	chr19:42212501-42212551	AG10803	skin:	n/a
16	chr19:42212501-42212551	HUVEC	blood vessel:	n/a
17	chr19:42212501-42212551	NB4	blood:	n/a
18	chr19:42212501-42212551	Hela-S3	cervix:	n/a
19	chr19:42212501-42212551	AG04450	lung:	fetal
20	chr19:42212501-42212551	GM06990	blood:	n/a
21	chr19:42212501-42212551	GM12878	blood:	n/a
22	chr19:42212501-42212551	AoSMC	blood vessel:	n/a
23	chr19:42212501-42212551	GM19239	blood:	n/a
24	chr19:42212501-42212551	MCF-7	breast:	n/a
25	chr19:42212501-42212551	Jurkat	blood:	n/a
26	chr19:42212501-42212551	Caco-2	colon:	n/a
27	chr19:42212501-42212551	HRE	kidney:	n/a
28	chr19:42212501-42212551	U87	brain:	n/a
29	chr19:42212501-42212551	HAEpiC	amniotic membrane:	n/a
30	chr19:42212501-42212551	SAEC	small airway:	n/a
31	chr19:42212501-42212551	HCT-116	colon:	n/a
32	chr19:42212501-42212551	A549	lung:	n/a
33	chr19:42212501-42212551	LNCaP	prostate:	n/a
34	chr19:42212501-42212551	AG04449	skin:	fetal
35	chr19:42212501-42212551	HEK293	kidney:	embryo
36	chr19:42212501-42212551	BE2_C	brain:	n/a
37	chr19:42212501-42212551	HCM	heart:	n/a
38	chr19:42212501-42212551	SKMC	muscle:	n/a
39	chr19:42212501-42212551	PANC-1	pancreas:	n/a
40	chr19:42212501-42212551	HepG2	liver:	n/a
41	chr19:42212501-42212551	NH-A	brain:	n/a
42	chr19:42212501-42212551	GM12892	blood:	n/a
43	chr19:42212501-42212551	HCPEpiC	choroid plexus:	n/a
44	chr19:42212501-42212551	SK-N-SH	brain:	n/a
45	chr19:42212501-42212551	T-47D	breast:	n/a
46	chr19:42212501-42212551	MCF10A-Er-Src	breast:	n/a
47	chr19:42212501-42212551	HL-60	blood:	n/a
48	chr19:42212501-42212551	Hepatocyte	liver:	n/a
49	chr19:42212501-42212551	NHBE	bronchial:	n/a
50	chr19:42212501-42212551	K562	blood:	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:

No data

Variant related genes	Relation type
ENSG00000267881	TF binding region
CEACAM5	TF binding region
CEACAM7	TF binding region
CEACAM5	CpG island
CEACAM7	CpG island
ENSG00000267881	CpG island
ENSG00000268833	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42211000-42214200	Active TSS	Rectal Smooth Muscle	rectum
2	chr19:42211200-42212600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr19:42211400-42212600	Weak transcription	Fetal Intestine Small	intestine
4	chr19:42211600-42212600	Weak transcription	Fetal Intestine Large	intestine
5	chr19:42212000-42216200	Active TSS	Esophagus	oesophagus
6	chr19:42212000-42222800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:42212400-42213200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr19:42212400-42213800	Active TSS	Colonic Mucosa	Colon
9	chr19:42212400-42214400	Active TSS	Stomach Mucosa	stomach

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