Variant report

Variant	rs72819919
Chromosome Location	chr2:98962127-98962128
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	chr2:98962105-98962155	AoSMC	blood vessel:	n/a
2	chr2:98962105-98962155	HIPEpiC	eye:	n/a
3	chr2:98962105-98962155	ECC-1	luminal epithelium:	n/a
4	chr2:98962105-98962155	NB4	blood:	n/a
5	chr2:98962105-98962155	MCF10A-Er-Src	breast:	n/a
6	chr2:98962105-98962155	SK-N-SH_RA	brain:	n/a
7	chr2:98962105-98962155	IMR90	lung:	fetal
8	chr2:98962105-98962155	SAEC	small airway:	n/a
9	chr2:98962105-98962155	MCF-7	breast:	n/a
10	chr2:98962105-98962155	HCF	heart:	n/a
11	chr2:98962105-98962155	K562	blood:	n/a
12	chr2:98962105-98962155	BE2_C	brain:	n/a
13	chr2:98962105-98962155	HRPEpiC	eye:	n/a
14	chr2:98962105-98962155	AG09319	gingival:	n/a
15	chr2:98962105-98962155	GM12892	blood:	n/a
16	chr2:98962105-98962155	HCPEpiC	choroid plexus:	n/a
17	chr2:98962105-98962155	HPAEpiC	pulmonary alveolar:	n/a
18	chr2:98962105-98962155	HEEpiC	esophagus:	n/a
19	chr2:98962105-98962155	HMEC	breast:	n/a
20	chr2:98962105-98962155	HEK293	kidney:	embryo
21	chr2:98962105-98962155	HCM	heart:	n/a
22	chr2:98962105-98962155	NH-A	brain:	n/a
23	chr2:98962105-98962155	U87	brain:	n/a
24	chr2:98962105-98962155	PFSK-1	brain:	n/a
25	chr2:98962105-98962155	GM12891	blood:	n/a
26	chr2:98962105-98962155	SK-N-SH	brain:	n/a
27	chr2:98962105-98962155	A549	lung:	n/a
28	chr2:98962105-98962155	HUVEC	blood vessel:	n/a
29	chr2:98962105-98962155	NHBE	bronchial:	n/a
30	chr2:98962105-98962155	Jurkat	blood:	n/a
31	chr2:98962105-98962155	AG09309	skin:	n/a
32	chr2:98962105-98962155	HNPCEpiC	eye:	n/a
33	chr2:98962105-98962155	HL-60	blood:	n/a
34	chr2:98962105-98962155	AG04450	lung:	fetal
35	chr2:98962105-98962155	HRCEpiC	kidney:	n/a
36	chr2:98962105-98962155	AG10803	skin:	n/a
37	chr2:98962105-98962155	NT2-D1	testis:	n/a
38	chr2:98962105-98962155	LNCaP	prostate:	n/a
39	chr2:98962105-98962155	H1-hESC	embryonic stem cell:	embryo
40	chr2:98962105-98962155	HepG2	liver:	n/a
41	chr2:98962105-98962155	GM19239	blood:	n/a
42	chr2:98962105-98962155	AG04449	skin:	fetal
43	chr2:98962105-98962155	SK-N-MC	brain:	n/a
44	chr2:98962105-98962155	CMK	blood:	n/a
45	chr2:98962105-98962155	HRE	kidney:	n/a
46	chr2:98962105-98962155	PANC-1	pancreas:	n/a
47	chr2:98962105-98962155	Hela-S3	cervix:	n/a
48	chr2:98962105-98962155	Hepatocyte	liver:	n/a
49	chr2:98962105-98962155	HAEpiC	amniotic membrane:	n/a
50	chr2:98962105-98962155	PrEC	prostate:	n/a

No data

Variant related genes	Relation type
ENSG00000227987	CpG island
CNGA3	CpG island

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1010387	1.00[AFR][1000 genomes]
rs11684812	1.00[AFR][1000 genomes]
rs11684899	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11691306	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17427608	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17427825	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17428745	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17428990	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17429379	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17500406	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17501094	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62155312	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62155317	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62155347	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62155354	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62155355	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62155358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156305	0.82[EUR][1000 genomes]
rs62156346	1.00[AFR][1000 genomes]
rs62156686	1.00[AFR][1000 genomes]
rs62156724	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62156744	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62157892	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62157901	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62157907	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62157908	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62157916	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72817785	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72817792	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72817793	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72819903	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72819917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819921	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72819927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1004082	chr2:98792256-98967681	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv535833	chr2:98792256-98967681	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1008645	chr2:98915767-99010743	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1010466	chr2:98938886-98998109	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1013617	chr2:98943377-99004173	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98961600-98962200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:98962000-98962200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:98962000-98962600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:98962000-98964400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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