Variant report

Variant	rs12659843
Chromosome Location	chr5:79615549-79615550
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	chr5:79615513-79615563	K562	blood:	n/a
2	chr5:79615513-79615563	HCPEpiC	choroid plexus:	n/a
3	chr5:79615513-79615563	GM12878	blood:	n/a
4	chr5:79615513-79615563	Hepatocyte	liver:	n/a
5	chr5:79615513-79615563	HMEC	breast:	n/a
6	chr5:79615513-79615563	NHBE	bronchial:	n/a
7	chr5:79615513-79615563	BJ	skin:	n/a
8	chr5:79615513-79615563	ECC-1	luminal epithelium:	n/a
9	chr5:79615513-79615563	HEK293	kidney:	embryo
10	chr5:79615513-79615563	SK-N-MC	brain:	n/a
11	chr5:79615513-79615563	RPTEC	kidney:	n/a
12	chr5:79615513-79615563	HepG2	liver:	n/a
13	chr5:79615513-79615563	AG09319	gingival:	n/a
14	chr5:79615513-79615563	GM19239	blood:	n/a
15	chr5:79615513-79615563	CMK	blood:	n/a
16	chr5:79615513-79615563	GM12892	blood:	n/a
17	chr5:79615513-79615563	PANC-1	pancreas:	n/a
18	chr5:79615513-79615563	MCF-7	breast:	n/a
19	chr5:79615513-79615563	Jurkat	blood:	n/a
20	chr5:79615513-79615563	HNPCEpiC	eye:	n/a
21	chr5:79615513-79615563	SKMC	muscle:	n/a
22	chr5:79615513-79615563	HUVEC	blood vessel:	n/a
23	chr5:79615513-79615563	HPAEpiC	pulmonary alveolar:	n/a
24	chr5:79615513-79615563	HCM	heart:	n/a
25	chr5:79615513-79615563	LNCaP	prostate:	n/a
26	chr5:79615513-79615563	BE2_C	brain:	n/a
27	chr5:79615513-79615563	ovcar-3	ovarian:	n/a
28	chr5:79615513-79615563	HCT-116	colon:	n/a
29	chr5:79615513-79615563	AoSMC	blood vessel:	n/a
30	chr5:79615513-79615563	AG04450	lung:	fetal
31	chr5:79615513-79615563	A549	lung:	n/a
32	chr5:79615513-79615563	AG04449	skin:	fetal
33	chr5:79615513-79615563	SK-N-SH	brain:	n/a
34	chr5:79615513-79615563	H1-hESC	embryonic stem cell:	embryo
35	chr5:79615513-79615563	T-47D	breast:	n/a
36	chr5:79615513-79615563	GM12891	blood:	n/a
37	chr5:79615513-79615563	Hela-S3	cervix:	n/a
38	chr5:79615513-79615563	HIPEpiC	eye:	n/a
39	chr5:79615513-79615563	AG09309	skin:	n/a
40	chr5:79615513-79615563	NB4	blood:	n/a
41	chr5:79615513-79615563	NHDF-neo	bronchial:	n/a
42	chr5:79615513-79615563	IMR90	lung:	fetal
43	chr5:79615513-79615563	NT2-D1	testis:	n/a
44	chr5:79615513-79615563	U87	brain:	n/a
45	chr5:79615513-79615563	HAEpiC	amniotic membrane:	n/a
46	chr5:79615513-79615563	HL-60	blood:	n/a
47	chr5:79615513-79615563	HRPEpiC	eye:	n/a
48	chr5:79615513-79615563	ProgFib	skin:	n/a
49	chr5:79615513-79615563	Caco-2	colon:	n/a
50	chr5:79615513-79615563	GM06990	blood:	n/a

No data

Variant related genes	Relation type
SPZ1	CpG island

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12518671	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12659679	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1500139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs55847832	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55889500	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56232369	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66872803	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73113890	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7722128	0.90[CHB][hapmap];0.94[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948807	chr5:79549207-79805765	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv518480	chr5:79586085-79748382	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12659843	SERINC5	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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