Variant report

Variant	rs558559153
Chromosome Location	chr1:242120638-242120639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:242120638-242120688	GM12878	blood:	n/a
2	chr1:242120638-242120688	HRE	kidney:	n/a
3	chr1:242120638-242120688	Hela-S3	cervix:	n/a
4	chr1:242120638-242120688	HL-60	blood:	n/a
5	chr1:242120638-242120688	RPTEC	kidney:	n/a
6	chr1:242120638-242120688	HIPEpiC	eye:	n/a
7	chr1:242120638-242120688	T-47D	breast:	n/a
8	chr1:242120638-242120688	GM19239	blood:	n/a
9	chr1:242120638-242120688	AG10803	skin:	n/a
10	chr1:242120638-242120688	Jurkat	blood:	n/a
11	chr1:242120638-242120688	HPAEpiC	pulmonary alveolar:	n/a
12	chr1:242120638-242120688	PrEC	prostate:	n/a
13	chr1:242120638-242120688	Caco-2	colon:	n/a
14	chr1:242120638-242120688	HCF	heart:	n/a
15	chr1:242120638-242120688	AG04449	skin:	fetal
16	chr1:242120638-242120688	SKMC	muscle:	n/a
17	chr1:242120638-242120688	SK-N-MC	brain:	n/a
18	chr1:242120638-242120688	MCF-7	breast:	n/a
19	chr1:242120638-242120688	SK-N-SH_RA	brain:	n/a
20	chr1:242120638-242120688	HNPCEpiC	eye:	n/a
21	chr1:242120638-242120688	ovcar-3	ovarian:	n/a
22	chr1:242120638-242120688	SAEC	small airway:	n/a
23	chr1:242120638-242120688	NT2-D1	testis:	n/a
24	chr1:242120638-242120688	NB4	blood:	n/a
25	chr1:242120638-242120688	HUVEC	blood vessel:	n/a
26	chr1:242120638-242120688	MCF10A-Er-Src	breast:	n/a
27	chr1:242120638-242120688	HMEC	breast:	n/a
28	chr1:242120638-242120688	BE2_C	brain:	n/a
29	chr1:242120638-242120688	HCPEpiC	choroid plexus:	n/a
30	chr1:242120638-242120688	LNCaP	prostate:	n/a
31	chr1:242120638-242120688	H1-hESC	embryonic stem cell:	embryo
32	chr1:242120638-242120688	IMR90	lung:	fetal
33	chr1:242120638-242120688	PFSK-1	brain:	n/a
34	chr1:242120638-242120688	HEK293	kidney:	embryo
35	chr1:242120638-242120688	SK-N-SH	brain:	n/a
36	chr1:242120638-242120688	HEEpiC	esophagus:	n/a
37	chr1:242120638-242120688	AG09319	gingival:	n/a
38	chr1:242120638-242120688	CMK	blood:	n/a
39	chr1:242120638-242120688	NHDF-neo	bronchial:	n/a
40	chr1:242120638-242120688	Hepatocyte	liver:	n/a
41	chr1:242120638-242120688	HRPEpiC	eye:	n/a
42	chr1:242120638-242120688	HAEpiC	amniotic membrane:	n/a
43	chr1:242120638-242120688	GM12892	blood:	n/a
44	chr1:242120638-242120688	HCT-116	colon:	n/a
45	chr1:242120638-242120688	BJ	skin:	n/a
46	chr1:242120638-242120688	GM06990	blood:	n/a
47	chr1:242120638-242120688	HRCEpiC	kidney:	n/a
48	chr1:242120638-242120688	HepG2	liver:	n/a
49	chr1:242120638-242120688	PANC-1	pancreas:	n/a
50	chr1:242120638-242120688	ECC-1	luminal epithelium:	n/a

No data

Variant related genes	Relation type
BECN1P1	CpG island

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1008886	chr1:242015591-242176983	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv2750830	chr1:242025098-242303357	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv2750831	chr1:242025098-242332959	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1002309	chr1:242042242-242295635	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv870442	chr1:242105882-242136576	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv947475	chr1:242119659-242136347	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242114000-242121200	Weak transcription	Fetal Muscle Leg	muscle

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