Variant report

Variant	rs13409893
Chromosome Location	chr2:133672718-133672719
allele	C/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	chr2:133672682-133672732	ECC-1	luminal epithelium:	n/a
2	chr2:133672682-133672732	AG09319	gingival:	n/a
3	chr2:133672682-133672732	AG04449	skin:	fetal
4	chr2:133672682-133672732	HEEpiC	esophagus:	n/a
5	chr2:133672682-133672732	Hepatocyte	liver:	n/a
6	chr2:133672682-133672732	AG10803	skin:	n/a
7	chr2:133672682-133672732	K562	blood:	n/a
8	chr2:133672682-133672732	HCT-116	colon:	n/a
9	chr2:133672682-133672732	H1-hESC	embryonic stem cell:	embryo
10	chr2:133672682-133672732	HCM	heart:	n/a
11	chr2:133672682-133672732	NB4	blood:	n/a
12	chr2:133672682-133672732	HCF	heart:	n/a
13	chr2:133672682-133672732	HNPCEpiC	eye:	n/a
14	chr2:133672682-133672732	IMR90	lung:	fetal
15	chr2:133672682-133672732	GM12878	blood:	n/a
16	chr2:133672682-133672732	GM12891	blood:	n/a
17	chr2:133672682-133672732	SAEC	small airway:	n/a
18	chr2:133672682-133672732	NHBE	bronchial:	n/a
19	chr2:133672682-133672732	SKMC	muscle:	n/a
20	chr2:133672682-133672732	PANC-1	pancreas:	n/a
21	chr2:133672682-133672732	ovcar-3	ovarian:	n/a
22	chr2:133672682-133672732	HMEC	breast:	n/a
23	chr2:133672682-133672732	PrEC	prostate:	n/a
24	chr2:133672682-133672732	HAEpiC	amniotic membrane:	n/a
25	chr2:133672682-133672732	MCF10A-Er-Src	breast:	n/a
26	chr2:133672682-133672732	AG09309	skin:	n/a
27	chr2:133672682-133672732	BE2_C	brain:	n/a
28	chr2:133672682-133672732	HCPEpiC	choroid plexus:	n/a
29	chr2:133672682-133672732	PFSK-1	brain:	n/a
30	chr2:133672682-133672732	GM19239	blood:	n/a
31	chr2:133672682-133672732	NH-A	brain:	n/a
32	chr2:133672682-133672732	NHDF-neo	bronchial:	n/a
33	chr2:133672682-133672732	MCF-7	breast:	n/a
34	chr2:133672682-133672732	GM06990	blood:	n/a
35	chr2:133672682-133672732	HUVEC	blood vessel:	n/a
36	chr2:133672682-133672732	U87	brain:	n/a
37	chr2:133672682-133672732	BJ	skin:	n/a
38	chr2:133672682-133672732	HRE	kidney:	n/a
39	chr2:133672682-133672732	HIPEpiC	eye:	n/a
40	chr2:133672682-133672732	T-47D	breast:	n/a
41	chr2:133672682-133672732	Hela-S3	cervix:	n/a
42	chr2:133672682-133672732	AoSMC	blood vessel:	n/a
43	chr2:133672682-133672732	NT2-D1	testis:	n/a
44	chr2:133672682-133672732	GM12892	blood:	n/a
45	chr2:133672682-133672732	A549	lung:	n/a
46	chr2:133672682-133672732	ProgFib	skin:	n/a
47	chr2:133672682-133672732	HL-60	blood:	n/a
48	chr2:133672682-133672732	HEK293	kidney:	embryo
49	chr2:133672682-133672732	RPTEC	kidney:	n/a
50	chr2:133672682-133672732	CMK	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000228721	CpG island
ENSG00000233729	CpG island

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10175655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13402624	0.82[AFR][1000 genomes]
rs13426185	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv875138	chr2:133410921-133761794	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1002955	chr2:133440142-133743211	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1004604	chr2:133658116-133761794	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv916805	chr2:133664765-133924973	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv583159	chr2:133667285-133678457	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3519229	chr2:133669598-133674970	Enhancers Weak transcription Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3519227	chr2:133670682-133675580	Enhancers Weak transcription Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3519231	chr2:133671132-133674970	Enhancers Weak transcription Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv3519228	chr2:133671132-133675530	Enhancers Weak transcription Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv11729	chr2:133672188-133674783	Weak transcription Enhancers Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv583160	chr2:133672718-133674029	Enhancers Weak transcription Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv583161	chr2:133672718-133674090	Weak transcription Enhancers Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv583162	chr2:133672718-133674507	Weak transcription Enhancers Genic enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv583163	chr2:133672718-133674562	Enhancers Genic enhancers Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133667200-133681600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:133667600-133673000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:133668800-133676400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:133669800-133672800	Weak transcription	Fetal Lung	lung
5	chr2:133669800-133672800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:133670200-133672800	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:133670400-133673400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:133672200-133673600	Enhancers	Fetal Heart	heart
9	chr2:133672600-133673000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:133672600-133674200	Enhancers	Adipose Nuclei	Adipose

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