Variant report

Variant	rs548501903
Chromosome Location	chr1:213021980-213021981
allele	A/G
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	chr1:213021979-213022029	HEEpiC	esophagus:	n/a
2	chr1:213021979-213022029	HCPEpiC	choroid plexus:	n/a
3	chr1:213021979-213022029	Hela-S3	cervix:	n/a
4	chr1:213021979-213022029	NB4	blood:	n/a
5	chr1:213021979-213022029	HMEC	breast:	n/a
6	chr1:213021979-213022029	CMK	blood:	n/a
7	chr1:213021979-213022029	ECC-1	luminal epithelium:	n/a
8	chr1:213021979-213022029	SK-N-SH_RA	brain:	n/a
9	chr1:213021979-213022029	AG09309	skin:	n/a
10	chr1:213021979-213022029	NH-A	brain:	n/a
11	chr1:213021979-213022029	AoSMC	blood vessel:	n/a
12	chr1:213021979-213022029	GM12892	blood:	n/a
13	chr1:213021979-213022029	GM19239	blood:	n/a
14	chr1:213021979-213022029	AG04449	skin:	fetal
15	chr1:213021979-213022029	HAEpiC	amniotic membrane:	n/a
16	chr1:213021979-213022029	BJ	skin:	n/a
17	chr1:213021979-213022029	HRE	kidney:	n/a
18	chr1:213021979-213022029	HPAEpiC	pulmonary alveolar:	n/a
19	chr1:213021979-213022029	HRCEpiC	kidney:	n/a
20	chr1:213021979-213022029	BE2_C	brain:	n/a
21	chr1:213021979-213022029	Caco-2	colon:	n/a
22	chr1:213021979-213022029	ovcar-3	ovarian:	n/a
23	chr1:213021979-213022029	HepG2	liver:	n/a
24	chr1:213021979-213022029	AG10803	skin:	n/a
25	chr1:213021979-213022029	A549	lung:	n/a
26	chr1:213021979-213022029	HEK293	kidney:	embryo
27	chr1:213021979-213022029	HCF	heart:	n/a
28	chr1:213021979-213022029	IMR90	lung:	fetal
29	chr1:213021979-213022029	NT2-D1	testis:	n/a
30	chr1:213021979-213022029	SAEC	small airway:	n/a
31	chr1:213021979-213022029	MCF10A-Er-Src	breast:	n/a
32	chr1:213021979-213022029	PANC-1	pancreas:	n/a
33	chr1:213021979-213022029	SK-N-MC	brain:	n/a
34	chr1:213021979-213022029	LNCaP	prostate:	n/a
35	chr1:213021979-213022029	HNPCEpiC	eye:	n/a
36	chr1:213021979-213022029	Jurkat	blood:	n/a
37	chr1:213021979-213022029	MCF-7	breast:	n/a
38	chr1:213021979-213022029	NHDF-neo	bronchial:	n/a
39	chr1:213021979-213022029	PFSK-1	brain:	n/a
40	chr1:213021979-213022029	RPTEC	kidney:	n/a
41	chr1:213021979-213022029	GM12878	blood:	n/a
42	chr1:213021979-213022029	HCT-116	colon:	n/a
43	chr1:213021979-213022029	HRPEpiC	eye:	n/a
44	chr1:213021979-213022029	ProgFib	skin:	n/a
45	chr1:213021979-213022029	H1-hESC	embryonic stem cell:	embryo
46	chr1:213021979-213022029	AG09319	gingival:	n/a
47	chr1:213021979-213022029	HCM	heart:	n/a
48	chr1:213021979-213022029	SK-N-SH	brain:	n/a
49	chr1:213021979-213022029	T-47D	breast:	n/a
50	chr1:213021979-213022029	NHBE	bronchial:	n/a

No data

Variant related genes	Relation type
ENSG00000235182	CpG island
C1orf227	CpG island

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv508691	chr1:212998319-213028392	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
3	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1013705	chr1:213005344-213064209	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	esv3413107	chr1:213021779-213025977	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213020400-213028600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:213021600-213026800	Weak transcription	HepG2	liver

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