Variant report

Variant	rs547210020
Chromosome Location	chr1:228742714-228742715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr1:228741241-228742791	ECC-1	luminal epithelium:	n/a	n/a
2	EP300	chr1:228741231-228742773	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:228742687-228742737	AG04449	skin:	fetal
2	chr1:228742687-228742737	H1-hESC	embryonic stem cell:	embryo
3	chr1:228742687-228742737	HCPEpiC	choroid plexus:	n/a
4	chr1:228742687-228742737	GM12891	blood:	n/a
5	chr1:228742687-228742737	MCF10A-Er-Src	breast:	n/a
6	chr1:228742687-228742737	HPAEpiC	pulmonary alveolar:	n/a
7	chr1:228742687-228742737	A549	lung:	n/a
8	chr1:228742687-228742737	HepG2	liver:	n/a
9	chr1:228742687-228742737	U87	brain:	n/a
10	chr1:228742687-228742737	Jurkat	blood:	n/a
11	chr1:228742687-228742737	HAEpiC	amniotic membrane:	n/a
12	chr1:228742687-228742737	HRE	kidney:	n/a
13	chr1:228742687-228742737	MCF-7	breast:	n/a
14	chr1:228742687-228742737	HEEpiC	esophagus:	n/a
15	chr1:228742687-228742737	NHBE	bronchial:	n/a
16	chr1:228742687-228742737	HMEC	breast:	n/a
17	chr1:228742687-228742737	AoSMC	blood vessel:	n/a
18	chr1:228742687-228742737	GM06990	blood:	n/a
19	chr1:228742687-228742737	BE2_C	brain:	n/a
20	chr1:228742687-228742737	SK-N-MC	brain:	n/a
21	chr1:228742687-228742737	Hela-S3	cervix:	n/a
22	chr1:228742687-228742737	HIPEpiC	eye:	n/a
23	chr1:228742687-228742737	PFSK-1	brain:	n/a
24	chr1:228742687-228742737	ECC-1	luminal epithelium:	n/a
25	chr1:228742687-228742737	ovcar-3	ovarian:	n/a
26	chr1:228742687-228742737	IMR90	lung:	fetal
27	chr1:228742687-228742737	AG04450	lung:	fetal
28	chr1:228742687-228742737	HRCEpiC	kidney:	n/a
29	chr1:228742687-228742737	GM12892	blood:	n/a
30	chr1:228742687-228742737	PrEC	prostate:	n/a
31	chr1:228742687-228742737	NT2-D1	testis:	n/a
32	chr1:228742687-228742737	Caco-2	colon:	n/a
33	chr1:228742687-228742737	GM19239	blood:	n/a
34	chr1:228742687-228742737	GM12878	blood:	n/a
35	chr1:228742687-228742737	NHDF-neo	bronchial:	n/a
36	chr1:228742687-228742737	NH-A	brain:	n/a
37	chr1:228742687-228742737	HNPCEpiC	eye:	n/a
38	chr1:228742687-228742737	SK-N-SH_RA	brain:	n/a
39	chr1:228742687-228742737	HRPEpiC	eye:	n/a
40	chr1:228742687-228742737	SK-N-SH	brain:	n/a
41	chr1:228742687-228742737	HCT-116	colon:	n/a
42	chr1:228742687-228742737	CMK	blood:	n/a
43	chr1:228742687-228742737	BJ	skin:	n/a
44	chr1:228742687-228742737	HL-60	blood:	n/a
45	chr1:228742687-228742737	HEK293	kidney:	embryo
46	chr1:228742687-228742737	NB4	blood:	n/a
47	chr1:228742687-228742737	AG09319	gingival:	n/a
48	chr1:228742687-228742737	Hepatocyte	liver:	n/a
49	chr1:228742687-228742737	HCM	heart:	n/a
50	chr1:228742687-228742737	T-47D	breast:	n/a

No data

Variant related genes	Relation type
RNA5SP19	TF binding region
DUSP5P1	TF binding region
DUSP5P1	CpG island
RNA5SP19	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	esv15299	chr1:228716554-228744099	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
4	nsv827075	chr1:228716554-228783674	Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
5	nsv945355	chr1:228716611-228784016	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
6	nsv511124	chr1:228742457-228780671	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island	18 gene(s)	inside rSNPs	diseases
7	esv19715	chr1:228742638-228783674	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228742600-228742800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:228742600-228742800	Bivalent Enhancer	Fetal Brain Male	brain
3	chr1:228742600-228743000	Active TSS	Rectal Mucosa Donor 31	rectum

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