Variant report

Variant	rs12519858
Chromosome Location	chr5:95858566-95858567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:95858565-95858634	HUVEC	blood vessel:	n/a	n/a
2	ZNF263	chr5:95858385-95859396	HEK293-T-REx	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:95858534-95858584	NHBE	bronchial:	n/a
2	chr5:95858534-95858584	A549	lung:	n/a
3	chr5:95858534-95858584	HCM	heart:	n/a
4	chr5:95858534-95858584	Caco-2	colon:	n/a
5	chr5:95858534-95858584	GM12892	blood:	n/a
6	chr5:95858534-95858584	PANC-1	pancreas:	n/a
7	chr5:95858534-95858584	HEEpiC	esophagus:	n/a
8	chr5:95858534-95858584	NHDF-neo	bronchial:	n/a
9	chr5:95858534-95858584	HUVEC	blood vessel:	n/a
10	chr5:95858534-95858584	AG04449	skin:	fetal
11	chr5:95858534-95858584	SK-N-SH	brain:	n/a
12	chr5:95858534-95858584	HCPEpiC	choroid plexus:	n/a
13	chr5:95858534-95858584	T-47D	breast:	n/a
14	chr5:95858534-95858584	ECC-1	luminal epithelium:	n/a
15	chr5:95858534-95858584	NH-A	brain:	n/a
16	chr5:95858534-95858584	ProgFib	skin:	n/a
17	chr5:95858534-95858584	AoSMC	blood vessel:	n/a
18	chr5:95858534-95858584	LNCaP	prostate:	n/a
19	chr5:95858534-95858584	HMEC	breast:	n/a
20	chr5:95858534-95858584	HRE	kidney:	n/a
21	chr5:95858534-95858584	GM12891	blood:	n/a
22	chr5:95858534-95858584	CMK	blood:	n/a
23	chr5:95858534-95858584	HAEpiC	amniotic membrane:	n/a
24	chr5:95858534-95858584	HRPEpiC	eye:	n/a
25	chr5:95858534-95858584	PFSK-1	brain:	n/a
26	chr5:95858534-95858584	AG04450	lung:	fetal
27	chr5:95858534-95858584	K562	blood:	n/a
28	chr5:95858534-95858584	HPAEpiC	pulmonary alveolar:	n/a
29	chr5:95858534-95858584	PrEC	prostate:	n/a
30	chr5:95858534-95858584	ovcar-3	ovarian:	n/a
31	chr5:95858534-95858584	GM06990	blood:	n/a
32	chr5:95858534-95858584	BE2_C	brain:	n/a
33	chr5:95858534-95858584	HEK293	kidney:	embryo
34	chr5:95858534-95858584	NB4	blood:	n/a
35	chr5:95858534-95858584	GM12878	blood:	n/a
36	chr5:95858534-95858584	GM19239	blood:	n/a
37	chr5:95858534-95858584	AG09319	gingival:	n/a
38	chr5:95858534-95858584	RPTEC	kidney:	n/a
39	chr5:95858534-95858584	HNPCEpiC	eye:	n/a
40	chr5:95858534-95858584	MCF-7	breast:	n/a
41	chr5:95858534-95858584	H1-hESC	embryonic stem cell:	embryo
42	chr5:95858534-95858584	AG09309	skin:	n/a
43	chr5:95858534-95858584	NT2-D1	testis:	n/a
44	chr5:95858534-95858584	MCF10A-Er-Src	breast:	n/a
45	chr5:95858534-95858584	BJ	skin:	n/a
46	chr5:95858534-95858584	SKMC	muscle:	n/a
47	chr5:95858534-95858584	AG10803	skin:	n/a
48	chr5:95858534-95858584	Hepatocyte	liver:	n/a
49	chr5:95858534-95858584	Hela-S3	cervix:	n/a
50	chr5:95858534-95858584	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
CAST	TF binding region
CAST	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10515239	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11135463	0.99[ASN][1000 genomes]
rs12519926	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12519944	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12520029	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12520030	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12520472	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs155211	1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs155212	0.99[ASN][1000 genomes]
rs156004	1.00[EUR][1000 genomes]
rs156014	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17086176	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17086188	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086192	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2350243	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs261969	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4869289	0.81[EUR][1000 genomes]
rs4869294	0.88[CEU][hapmap]
rs62365716	0.99[ASN][1000 genomes]
rs7729313	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8180437	1.00[CEU][hapmap]

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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1026484	chr5:95759910-95961518	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr5:95849200-95858800	Weak transcription	Hela-S3	cervix
2	chr5:95853400-95858600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:95853600-95858600	Weak transcription	Osteobl	bone
4	chr5:95857200-95864000	Weak transcription	Pancreas	Pancrea

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