Variant report

Variant	rs72813873
Chromosome Location	chr2:56216366-56216367
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:56215469-56217427	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr2:56216271-56217024	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr2:56215181-56217254	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:56216320-56216370	U87	brain:	n/a
2	chr2:56216320-56216370	MCF-7	breast:	n/a
3	chr2:56216320-56216370	PANC-1	pancreas:	n/a
4	chr2:56216320-56216370	HMEC	breast:	n/a
5	chr2:56216320-56216370	HL-60	blood:	n/a
6	chr2:56216320-56216370	SK-N-SH	brain:	n/a
7	chr2:56216320-56216370	A549	lung:	n/a
8	chr2:56216320-56216370	AG09319	gingival:	n/a
9	chr2:56216320-56216370	PFSK-1	brain:	n/a
10	chr2:56216320-56216370	HUVEC	blood vessel:	n/a
11	chr2:56216320-56216370	AG04449	skin:	fetal
12	chr2:56216320-56216370	BJ	skin:	n/a
13	chr2:56216320-56216370	RPTEC	kidney:	n/a
14	chr2:56216320-56216370	GM06990	blood:	n/a
15	chr2:56216320-56216370	HNPCEpiC	eye:	n/a
16	chr2:56216320-56216370	K562	blood:	n/a
17	chr2:56216320-56216370	ECC-1	luminal epithelium:	n/a
18	chr2:56216320-56216370	HCF	heart:	n/a
19	chr2:56216320-56216370	HEK293	kidney:	embryo
20	chr2:56216320-56216370	AG09309	skin:	n/a
21	chr2:56216320-56216370	GM12891	blood:	n/a
22	chr2:56216320-56216370	NHDF-neo	bronchial:	n/a
23	chr2:56216320-56216370	SK-N-MC	brain:	n/a
24	chr2:56216320-56216370	AoSMC	blood vessel:	n/a
25	chr2:56216320-56216370	HRPEpiC	eye:	n/a
26	chr2:56216320-56216370	Hela-S3	cervix:	n/a
27	chr2:56216320-56216370	SAEC	small airway:	n/a
28	chr2:56216320-56216370	ovcar-3	ovarian:	n/a
29	chr2:56216320-56216370	HAEpiC	amniotic membrane:	n/a
30	chr2:56216320-56216370	HepG2	liver:	n/a
31	chr2:56216320-56216370	LNCaP	prostate:	n/a
32	chr2:56216320-56216370	Caco-2	colon:	n/a
33	chr2:56216320-56216370	AG10803	skin:	n/a
34	chr2:56216320-56216370	SKMC	muscle:	n/a
35	chr2:56216320-56216370	T-47D	breast:	n/a
36	chr2:56216320-56216370	NH-A	brain:	n/a
37	chr2:56216320-56216370	NHBE	bronchial:	n/a
38	chr2:56216320-56216370	IMR90	lung:	fetal
39	chr2:56216320-56216370	MCF10A-Er-Src	breast:	n/a
40	chr2:56216320-56216370	HCT-116	colon:	n/a
41	chr2:56216320-56216370	HPAEpiC	pulmonary alveolar:	n/a
42	chr2:56216320-56216370	GM19239	blood:	n/a
43	chr2:56216320-56216370	CMK	blood:	n/a
44	chr2:56216320-56216370	NT2-D1	testis:	n/a
45	chr2:56216320-56216370	HCPEpiC	choroid plexus:	n/a
46	chr2:56216320-56216370	HIPEpiC	eye:	n/a
47	chr2:56216320-56216370	Hepatocyte	liver:	n/a
48	chr2:56216320-56216370	GM12878	blood:	n/a
49	chr2:56216320-56216370	GM12892	blood:	n/a
50	chr2:56216320-56216370	ProgFib	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55920582..55922485-chr2:56215430..56218121,2	K562	blood:

No data

Variant related genes	Relation type
MIR216A	TF binding region
MIR216A	CpG island
ENSG00000138035	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10518794	0.89[EUR][1000 genomes]
rs55676306	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55749412	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55811442	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55845766	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55912959	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56058144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56195925	0.95[EUR][1000 genomes]
rs56309449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56412571	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72813864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813878	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72813879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813884	0.95[EUR][1000 genomes]
rs72813888	0.95[EUR][1000 genomes]
rs72813889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813900	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72813901	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72813902	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72815903	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72815905	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72815906	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72815907	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72815909	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72815910	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72815912	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72815915	0.89[AMR][1000 genomes]
rs7600678	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56214000-56217800	Weak transcription	Aorta	Aorta
2	chr2:56214600-56218000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:56214600-56218000	Weak transcription	HSMMtube	muscle
4	chr2:56214600-56218200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:56214600-56218400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:56214600-56218800	Weak transcription	Osteobl	bone
7	chr2:56214600-56219600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:56216200-56216400	Weak transcription	HSMM	muscle
9	chr2:56216200-56216400	Flanking Active TSS	HUVEC	blood vessel
10	chr2:56216200-56217200	Strong transcription	Pancreas	Pancrea
11	chr2:56216200-56218800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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