Variant report

Variant	rs11046149
Chromosome Location	chr12:21814783-21814784
allele	C/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	chr12:21814783-21814833	AG09309	skin:	n/a
2	chr12:21814783-21814833	HRE	kidney:	n/a
3	chr12:21814783-21814833	Hela-S3	cervix:	n/a
4	chr12:21814783-21814833	SKMC	muscle:	n/a
5	chr12:21814783-21814833	HUVEC	blood vessel:	n/a
6	chr12:21814783-21814833	BE2_C	brain:	n/a
7	chr12:21814783-21814833	ProgFib	skin:	n/a
8	chr12:21814783-21814833	GM19239	blood:	n/a
9	chr12:21814783-21814833	GM12878	blood:	n/a
10	chr12:21814783-21814833	Hepatocyte	liver:	n/a
11	chr12:21814783-21814833	HPAEpiC	pulmonary alveolar:	n/a
12	chr12:21814783-21814833	NH-A	brain:	n/a
13	chr12:21814783-21814833	HAEpiC	amniotic membrane:	n/a
14	chr12:21814783-21814833	GM12891	blood:	n/a
15	chr12:21814783-21814833	MCF10A-Er-Src	breast:	n/a
16	chr12:21814783-21814833	GM12892	blood:	n/a
17	chr12:21814783-21814833	NHBE	bronchial:	n/a
18	chr12:21814783-21814833	H1-hESC	embryonic stem cell:	embryo
19	chr12:21814783-21814833	PFSK-1	brain:	n/a
20	chr12:21814783-21814833	AG04449	skin:	fetal
21	chr12:21814783-21814833	HCM	heart:	n/a
22	chr12:21814783-21814833	T-47D	breast:	n/a
23	chr12:21814783-21814833	HRPEpiC	eye:	n/a
24	chr12:21814783-21814833	HepG2	liver:	n/a
25	chr12:21814783-21814833	AG09319	gingival:	n/a
26	chr12:21814783-21814833	ECC-1	luminal epithelium:	n/a
27	chr12:21814783-21814833	A549	lung:	n/a
28	chr12:21814783-21814833	K562	blood:	n/a
29	chr12:21814783-21814833	PrEC	prostate:	n/a
30	chr12:21814783-21814833	MCF-7	breast:	n/a
31	chr12:21814783-21814833	CMK	blood:	n/a
32	chr12:21814783-21814833	IMR90	lung:	fetal
33	chr12:21814783-21814833	GM06990	blood:	n/a
34	chr12:21814783-21814833	AG04450	lung:	fetal
35	chr12:21814783-21814833	NT2-D1	testis:	n/a
36	chr12:21814783-21814833	HRCEpiC	kidney:	n/a
37	chr12:21814783-21814833	ovcar-3	ovarian:	n/a
38	chr12:21814783-21814833	PANC-1	pancreas:	n/a
39	chr12:21814783-21814833	SK-N-SH	brain:	n/a
40	chr12:21814783-21814833	LNCaP	prostate:	n/a
41	chr12:21814783-21814833	RPTEC	kidney:	n/a
42	chr12:21814783-21814833	SK-N-MC	brain:	n/a
43	chr12:21814783-21814833	HCT-116	colon:	n/a
44	chr12:21814783-21814833	BJ	skin:	n/a
45	chr12:21814783-21814833	HMEC	breast:	n/a
46	chr12:21814783-21814833	Caco-2	colon:	n/a
47	chr12:21814783-21814833	HL-60	blood:	n/a
48	chr12:21814783-21814833	SAEC	small airway:	n/a
49	chr12:21814783-21814833	AG10803	skin:	n/a
50	chr12:21814783-21814833	NB4	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000256615	CpG island
LDHB	CpG island

Extended variants
information (count: 75 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10770848	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10770851	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10841867	0.82[AMR][1000 genomes]
rs10841868	0.82[AMR][1000 genomes]
rs10841869	0.82[AMR][1000 genomes]
rs10841872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10841873	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10841874	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10841878	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10841880	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11046147	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11046148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11046150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11046151	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11046153	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11046154	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11046156	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11046157	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11046158	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11046159	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11046160	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11046161	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11046164	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11046166	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11832211	0.81[AMR][1000 genomes]
rs11834600	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11836830	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12426310	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12426826	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12824571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824788	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12824936	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12824994	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12825320	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12826014	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12829701	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830306	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1650307	0.80[ASN][1000 genomes]
rs1677084	0.80[ASN][1000 genomes]
rs17629491	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2077105	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34015001	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34031159	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34084105	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34822889	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58134911	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60462572	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66592830	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66978947	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67247140	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67286733	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7133519	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7135965	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297042	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7301852	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7301883	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7302534	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302639	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303185	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303528	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7303612	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7303644	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7305475	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73077300	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7316427	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7316475	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7316669	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7953579	0.88[ASN][1000 genomes]
rs7975931	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs852816	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

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	nsv1043936	chr12:21562673-21979030	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv557741	chr12:21578559-22169854	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv469164	chr12:21688900-21966701	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv557744	chr12:21688900-21966701	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv832349	chr12:21749093-21930695	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11046149	RP11-59N23.3	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21810800-21816400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:21811200-21815400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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