Variant report

Variant	rs997868
Chromosome Location	chr12:4699232-4699233
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	chr12:4699232-4699282	HPAEpiC	pulmonary alveolar:	n/a
2	chr12:4699232-4699282	Hepatocyte	liver:	n/a
3	chr12:4699232-4699282	NHBE	bronchial:	n/a
4	chr12:4699232-4699282	HIPEpiC	eye:	n/a
5	chr12:4699232-4699282	SK-N-MC	brain:	n/a
6	chr12:4699232-4699282	BE2_C	brain:	n/a
7	chr12:4699232-4699282	AoSMC	blood vessel:	n/a
8	chr12:4699232-4699282	AG04449	skin:	fetal
9	chr12:4699232-4699282	K562	blood:	n/a
10	chr12:4699232-4699282	NB4	blood:	n/a
11	chr12:4699232-4699282	GM06990	blood:	n/a
12	chr12:4699232-4699282	HCF	heart:	n/a
13	chr12:4699232-4699282	CMK	blood:	n/a
14	chr12:4699232-4699282	MCF10A-Er-Src	breast:	n/a
15	chr12:4699232-4699282	T-47D	breast:	n/a
16	chr12:4699232-4699282	SAEC	small airway:	n/a
17	chr12:4699232-4699282	ovcar-3	ovarian:	n/a
18	chr12:4699232-4699282	HMEC	breast:	n/a
19	chr12:4699232-4699282	AG09309	skin:	n/a
20	chr12:4699232-4699282	HEK293	kidney:	embryo
21	chr12:4699232-4699282	HNPCEpiC	eye:	n/a
22	chr12:4699232-4699282	NH-A	brain:	n/a
23	chr12:4699232-4699282	HEEpiC	esophagus:	n/a
24	chr12:4699232-4699282	SKMC	muscle:	n/a
25	chr12:4699232-4699282	HCT-116	colon:	n/a
26	chr12:4699232-4699282	AG10803	skin:	n/a
27	chr12:4699232-4699282	PANC-1	pancreas:	n/a
28	chr12:4699232-4699282	LNCaP	prostate:	n/a
29	chr12:4699232-4699282	HRPEpiC	eye:	n/a
30	chr12:4699232-4699282	GM12891	blood:	n/a
31	chr12:4699232-4699282	A549	lung:	n/a
32	chr12:4699232-4699282	PrEC	prostate:	n/a
33	chr12:4699232-4699282	BJ	skin:	n/a
34	chr12:4699232-4699282	NT2-D1	testis:	n/a
35	chr12:4699232-4699282	HRCEpiC	kidney:	n/a
36	chr12:4699232-4699282	GM12878	blood:	n/a
37	chr12:4699232-4699282	HCPEpiC	choroid plexus:	n/a
38	chr12:4699232-4699282	HL-60	blood:	n/a
39	chr12:4699232-4699282	IMR90	lung:	fetal
40	chr12:4699232-4699282	SK-N-SH	brain:	n/a
41	chr12:4699232-4699282	ECC-1	luminal epithelium:	n/a
42	chr12:4699232-4699282	GM12892	blood:	n/a
43	chr12:4699232-4699282	MCF-7	breast:	n/a
44	chr12:4699232-4699282	ProgFib	skin:	n/a
45	chr12:4699232-4699282	HepG2	liver:	n/a
46	chr12:4699232-4699282	SK-N-SH_RA	brain:	n/a
47	chr12:4699232-4699282	PFSK-1	brain:	n/a
48	chr12:4699232-4699282	H1-hESC	embryonic stem cell:	embryo
49	chr12:4699232-4699282	HCM	heart:	n/a
50	chr12:4699232-4699282	U87	brain:	n/a

No data

Variant related genes	Relation type
DYRK4	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10774250	0.87[ASW][hapmap];0.92[CEU][hapmap];0.94[GIH][hapmap];0.84[MKK][hapmap];0.81[EUR][1000 genomes]
rs11063260	0.95[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11608880	0.81[EUR][1000 genomes]
rs11612861	0.92[CEU][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12580786	0.91[MEX][hapmap];0.87[TSI][hapmap]
rs16931572	0.83[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.90[ASN][1000 genomes]
rs17774040	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17774142	0.87[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2072358	0.81[EUR][1000 genomes]
rs2109097	0.81[EUR][1000 genomes]
rs2299835	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs3741925	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs3741926	0.94[CHB][hapmap];0.88[JPT][hapmap];0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4766261	0.80[YRI][hapmap];0.81[EUR][1000 genomes]
rs67338449	0.81[EUR][1000 genomes]

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	nsv557123	chr12:4436632-4736569	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs997868	NOP2	cis	cerebellum	SCAN
rs997868	GPR162	cis	cerebellum	SCAN
rs997868	AKAP3	Cis_1M	lymphoblastoid	RTeQTL
rs997868	AKAP3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4682800-4699600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:4696000-4702400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:4699200-4700000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:4699200-4702000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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