Variant report

Variant	rs550114640
Chromosome Location	chr1:152635226-152635227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152635226-152635276	HCF	heart:	n/a
2	chr1:152635226-152635276	HCT-116	colon:	n/a
3	chr1:152635226-152635276	SKMC	muscle:	n/a
4	chr1:152635200-152635250	HRCEpiC	kidney:	n/a
5	chr1:152635226-152635276	AG10803	skin:	n/a
6	chr1:152635226-152635276	BJ	skin:	n/a
7	chr1:152635226-152635276	PFSK-1	brain:	n/a
8	chr1:152635226-152635276	GM19239	blood:	n/a
9	chr1:152635200-152635250	HEEpiC	esophagus:	n/a
10	chr1:152635200-152635250	AG09309	skin:	n/a
11	chr1:152635200-152635250	HUVEC	blood vessel:	n/a
12	chr1:152635200-152635250	Jurkat	blood:	n/a
13	chr1:152635200-152635250	HRE	kidney:	n/a
14	chr1:152635200-152635250	H1-hESC	embryonic stem cell:	embryo
15	chr1:152635226-152635276	HNPCEpiC	eye:	n/a
16	chr1:152635226-152635276	ECC-1	luminal epithelium:	n/a
17	chr1:152635226-152635276	GM06990	blood:	n/a
18	chr1:152635200-152635250	ECC-1	luminal epithelium:	n/a
19	chr1:152635226-152635276	HL-60	blood:	n/a
20	chr1:152635200-152635250	RPTEC	kidney:	n/a
21	chr1:152635200-152635250	AG10803	skin:	n/a
22	chr1:152635226-152635276	K562	blood:	n/a
23	chr1:152635200-152635250	HMEC	breast:	n/a
24	chr1:152635200-152635250	A549	lung:	n/a
25	chr1:152635226-152635276	Jurkat	blood:	n/a
26	chr1:152635226-152635276	PrEC	prostate:	n/a
27	chr1:152635226-152635276	NHBE	bronchial:	n/a
28	chr1:152635200-152635250	HL-60	blood:	n/a
29	chr1:152635200-152635250	HPAEpiC	pulmonary alveolar:	n/a
30	chr1:152635226-152635276	SK-N-SH	brain:	n/a
31	chr1:152635200-152635250	HRPEpiC	eye:	n/a
32	chr1:152635226-152635276	HEK293	kidney:	embryo
33	chr1:152635226-152635276	HRE	kidney:	n/a
34	chr1:152635200-152635250	BE2_C	brain:	n/a
35	chr1:152635200-152635250	SAEC	small airway:	n/a
36	chr1:152635200-152635250	MCF-7	breast:	n/a
37	chr1:152635226-152635276	SK-N-SH_RA	brain:	n/a
38	chr1:152635226-152635276	HCPEpiC	choroid plexus:	n/a
39	chr1:152635200-152635250	NT2-D1	testis:	n/a
40	chr1:152635200-152635250	T-47D	breast:	n/a
41	chr1:152635200-152635250	IMR90	lung:	fetal
42	chr1:152635226-152635276	GM12891	blood:	n/a
43	chr1:152635200-152635250	AG04449	skin:	fetal
44	chr1:152635200-152635250	CMK	blood:	n/a
45	chr1:152635226-152635276	AoSMC	blood vessel:	n/a
46	chr1:152635226-152635276	HCM	heart:	n/a
47	chr1:152635226-152635276	SAEC	small airway:	n/a
48	chr1:152635200-152635250	HCPEpiC	choroid plexus:	n/a
49	chr1:152635226-152635276	AG09309	skin:	n/a
50	chr1:152635200-152635250	AG09319	gingival:	n/a

No data

Variant related genes	Relation type
LCE2D	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2750810	chr1:152453669-152660927	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv872447	chr1:152551276-152643160	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	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
9	nsv872448	chr1:152561408-152643160	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	nsv872449	chr1:152583678-152643160	Weak transcription Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	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
16	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
17	esv3320704	chr1:152632101-152644065	Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	esv3320705	chr1:152632101-152644065	Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv3381714	chr1:152634322-152646230	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv3334875	chr1:152634640-152646008	Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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