Variant report

Variant	rs2120450
Chromosome Location	chr15:53101580-53101581
allele	A/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	chr15:53101548-53101598	AG09309	skin:	n/a
2	chr15:53101548-53101598	AG09319	gingival:	n/a
3	chr15:53101548-53101598	PrEC	prostate:	n/a
4	chr15:53101548-53101598	MCF-7	breast:	n/a
5	chr15:53101548-53101598	HUVEC	blood vessel:	n/a
6	chr15:53101548-53101598	AG04449	skin:	fetal
7	chr15:53101548-53101598	GM12878	blood:	n/a
8	chr15:53101548-53101598	IMR90	lung:	fetal
9	chr15:53101548-53101598	SK-N-SH	brain:	n/a
10	chr15:53101548-53101598	Caco-2	colon:	n/a
11	chr15:53101548-53101598	HEK293	kidney:	embryo
12	chr15:53101548-53101598	Jurkat	blood:	n/a
13	chr15:53101548-53101598	HAEpiC	amniotic membrane:	n/a
14	chr15:53101548-53101598	GM19239	blood:	n/a
15	chr15:53101548-53101598	NT2-D1	testis:	n/a
16	chr15:53101548-53101598	SK-N-SH_RA	brain:	n/a
17	chr15:53101548-53101598	NHDF-neo	bronchial:	n/a
18	chr15:53101548-53101598	HCM	heart:	n/a
19	chr15:53101548-53101598	MCF10A-Er-Src	breast:	n/a
20	chr15:53101548-53101598	BJ	skin:	n/a
21	chr15:53101548-53101598	HCT-116	colon:	n/a
22	chr15:53101548-53101598	SAEC	small airway:	n/a
23	chr15:53101548-53101598	Hela-S3	cervix:	n/a
24	chr15:53101548-53101598	A549	lung:	n/a
25	chr15:53101548-53101598	GM12892	blood:	n/a
26	chr15:53101548-53101598	HNPCEpiC	eye:	n/a
27	chr15:53101548-53101598	ECC-1	luminal epithelium:	n/a
28	chr15:53101548-53101598	AG04450	lung:	fetal
29	chr15:53101548-53101598	NH-A	brain:	n/a
30	chr15:53101548-53101598	PANC-1	pancreas:	n/a
31	chr15:53101548-53101598	T-47D	breast:	n/a
32	chr15:53101548-53101598	K562	blood:	n/a
33	chr15:53101548-53101598	HRE	kidney:	n/a
34	chr15:53101548-53101598	HIPEpiC	eye:	n/a
35	chr15:53101548-53101598	NB4	blood:	n/a
36	chr15:53101548-53101598	HepG2	liver:	n/a
37	chr15:53101548-53101598	GM12891	blood:	n/a
38	chr15:53101548-53101598	HRPEpiC	eye:	n/a
39	chr15:53101548-53101598	HL-60	blood:	n/a
40	chr15:53101548-53101598	PFSK-1	brain:	n/a
41	chr15:53101548-53101598	HCF	heart:	n/a
42	chr15:53101548-53101598	CMK	blood:	n/a
43	chr15:53101548-53101598	ProgFib	skin:	n/a
44	chr15:53101548-53101598	SK-N-MC	brain:	n/a
45	chr15:53101548-53101598	GM06990	blood:	n/a
46	chr15:53101548-53101598	H1-hESC	embryonic stem cell:	embryo
47	chr15:53101548-53101598	HPAEpiC	pulmonary alveolar:	n/a
48	chr15:53101548-53101598	HCPEpiC	choroid plexus:	n/a
49	chr15:53101548-53101598	RPTEC	kidney:	n/a
50	chr15:53101548-53101598	BE2_C	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000259203	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10518694	0.83[EUR][1000 genomes]
rs2243790	0.89[CEU][hapmap];0.90[EUR][1000 genomes]
rs2440322	0.83[EUR][1000 genomes]
rs2440376	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs2456507	0.85[EUR][1000 genomes]
rs2456522	0.88[EUR][1000 genomes]
rs2456524	0.88[EUR][1000 genomes]
rs2456525	0.87[EUR][1000 genomes]
rs2456526	0.88[EUR][1000 genomes]
rs2456529	0.87[EUR][1000 genomes]
rs2456530	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2456532	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs60065065	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1046970	chr15:53065114-53142386	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
4	nsv569428	chr15:53069874-53140045	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr15:53100600-53116600	Weak transcription	Liver	Liver

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