Variant report

Variant	rs570014305
Chromosome Location	chr1:152670629-152670630
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	BHLHE40	chr1:152670607-152670826	K562	blood:	n/a	chr1:152670732-152670741 chr1:152670732-152670741 chr1:152670733-152670742
2	STAT3	chr1:152670615-152670892	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152670598-152670648	NHBE	bronchial:	n/a
2	chr1:152670598-152670648	HCF	heart:	n/a
3	chr1:152670598-152670648	HL-60	blood:	n/a
4	chr1:152670598-152670648	HepG2	liver:	n/a
5	chr1:152670598-152670648	SK-N-SH	brain:	n/a
6	chr1:152670598-152670648	PFSK-1	brain:	n/a
7	chr1:152670598-152670648	HIPEpiC	eye:	n/a
8	chr1:152670598-152670648	MCF10A-Er-Src	breast:	n/a
9	chr1:152670598-152670648	IMR90	lung:	fetal
10	chr1:152670598-152670648	T-47D	breast:	n/a
11	chr1:152670598-152670648	SKMC	muscle:	n/a
12	chr1:152670598-152670648	LNCaP	prostate:	n/a
13	chr1:152670598-152670648	HAEpiC	amniotic membrane:	n/a
14	chr1:152670598-152670648	K562	blood:	n/a
15	chr1:152670598-152670648	BE2_C	brain:	n/a
16	chr1:152670598-152670648	HRE	kidney:	n/a
17	chr1:152670598-152670648	U87	brain:	n/a
18	chr1:152670598-152670648	HEK293	kidney:	embryo
19	chr1:152670598-152670648	PrEC	prostate:	n/a
20	chr1:152670598-152670648	ECC-1	luminal epithelium:	n/a
21	chr1:152670598-152670648	NHDF-neo	bronchial:	n/a
22	chr1:152670598-152670648	NH-A	brain:	n/a
23	chr1:152670598-152670648	BJ	skin:	n/a
24	chr1:152670598-152670648	SK-N-SH_RA	brain:	n/a
25	chr1:152670598-152670648	AG09319	gingival:	n/a
26	chr1:152670598-152670648	CMK	blood:	n/a
27	chr1:152670598-152670648	SK-N-MC	brain:	n/a
28	chr1:152670598-152670648	GM06990	blood:	n/a
29	chr1:152670598-152670648	HCT-116	colon:	n/a
30	chr1:152670598-152670648	Caco-2	colon:	n/a
31	chr1:152670598-152670648	HNPCEpiC	eye:	n/a
32	chr1:152670598-152670648	AG04449	skin:	fetal
33	chr1:152670598-152670648	ovcar-3	ovarian:	n/a
34	chr1:152670598-152670648	MCF-7	breast:	n/a
35	chr1:152670598-152670648	Hepatocyte	liver:	n/a
36	chr1:152670598-152670648	GM19239	blood:	n/a
37	chr1:152670598-152670648	H1-hESC	embryonic stem cell:	embryo
38	chr1:152670598-152670648	HCM	heart:	n/a
39	chr1:152670598-152670648	ProgFib	skin:	n/a
40	chr1:152670598-152670648	SAEC	small airway:	n/a
41	chr1:152670598-152670648	GM12878	blood:	n/a
42	chr1:152670598-152670648	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:152670598-152670648	AoSMC	blood vessel:	n/a
44	chr1:152670598-152670648	Hela-S3	cervix:	n/a
45	chr1:152670598-152670648	HCPEpiC	choroid plexus:	n/a
46	chr1:152670598-152670648	RPTEC	kidney:	n/a
47	chr1:152670598-152670648	GM12892	blood:	n/a
48	chr1:152670598-152670648	A549	lung:	n/a
49	chr1:152670598-152670648	AG04450	lung:	fetal
50	chr1:152670598-152670648	Jurkat	blood:	n/a

No data

Variant related genes	Relation type
LCE2A	TF binding region
LCE2A	CpG island

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827111	chr1:152472839-152690073	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	esv1830764	chr1:152472839-152690073	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2757755	chr1:152472839-152898153	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv2758970	chr1:152472839-152898153	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv33483	chr1:152550269-152775526	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv547891	chr1:152556085-152770446	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv469873	chr1:152563260-152713616	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv482518	chr1:152563260-152713616	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1001647	chr1:152572876-152678509	Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv427786	chr1:152572990-152898153	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
12	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
13	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
14	nsv428521	chr1:152663153-152831578	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv3692902	chr1:152669367-152732567	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv947325	chr1:152670204-152793272	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152670200-152672200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:152670200-152672400	Enhancers	NHLF	lung
3	chr1:152670400-152670800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:152670400-152671200	Enhancers	NHDF-Ad	bronchial
5	chr1:152670400-152671600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:152670400-152673000	Enhancers	Placenta	Placenta
7	chr1:152670400-152673200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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