Variant report

Variant	rs8052727
Chromosome Location	chr16:69965281-69965282
allele	G/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:1)
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	chr16:69965257-69965307	HEEpiC	esophagus:	n/a
2	chr16:69965257-69965307	MCF10A-Er-Src	breast:	n/a
3	chr16:69965257-69965307	Hepatocyte	liver:	n/a
4	chr16:69965257-69965307	HUVEC	blood vessel:	n/a
5	chr16:69965257-69965307	ProgFib	skin:	n/a
6	chr16:69965257-69965307	GM12892	blood:	n/a
7	chr16:69965257-69965307	AG04449	skin:	fetal
8	chr16:69965257-69965307	HL-60	blood:	n/a
9	chr16:69965257-69965307	LNCaP	prostate:	n/a
10	chr16:69965257-69965307	GM19239	blood:	n/a
11	chr16:69965257-69965307	HCPEpiC	choroid plexus:	n/a
12	chr16:69965257-69965307	T-47D	breast:	n/a
13	chr16:69965257-69965307	HIPEpiC	eye:	n/a
14	chr16:69965257-69965307	NT2-D1	testis:	n/a
15	chr16:69965257-69965307	HRCEpiC	kidney:	n/a
16	chr16:69965257-69965307	SK-N-SH_RA	brain:	n/a
17	chr16:69965257-69965307	SAEC	small airway:	n/a
18	chr16:69965257-69965307	IMR90	lung:	fetal
19	chr16:69965257-69965307	AoSMC	blood vessel:	n/a
20	chr16:69965257-69965307	Caco-2	colon:	n/a
21	chr16:69965257-69965307	HCF	heart:	n/a
22	chr16:69965257-69965307	H1-hESC	embryonic stem cell:	embryo
23	chr16:69965257-69965307	ECC-1	luminal epithelium:	n/a
24	chr16:69965257-69965307	PANC-1	pancreas:	n/a
25	chr16:69965257-69965307	HepG2	liver:	n/a
26	chr16:69965257-69965307	PFSK-1	brain:	n/a
27	chr16:69965257-69965307	AG10803	skin:	n/a
28	chr16:69965257-69965307	GM12878	blood:	n/a
29	chr16:69965257-69965307	HCT-116	colon:	n/a
30	chr16:69965257-69965307	HEK293	kidney:	embryo
31	chr16:69965257-69965307	HAEpiC	amniotic membrane:	n/a
32	chr16:69965257-69965307	AG04450	lung:	fetal
33	chr16:69965257-69965307	CMK	blood:	n/a
34	chr16:69965257-69965307	HRE	kidney:	n/a
35	chr16:69965257-69965307	HCM	heart:	n/a
36	chr16:69965257-69965307	AG09319	gingival:	n/a
37	chr16:69965257-69965307	ovcar-3	ovarian:	n/a
38	chr16:69965257-69965307	Jurkat	blood:	n/a
39	chr16:69965257-69965307	GM06990	blood:	n/a
40	chr16:69965257-69965307	U87	brain:	n/a
41	chr16:69965257-69965307	SK-N-MC	brain:	n/a
42	chr16:69965257-69965307	MCF-7	breast:	n/a
43	chr16:69965257-69965307	GM12891	blood:	n/a
44	chr16:69965257-69965307	BJ	skin:	n/a
45	chr16:69965257-69965307	RPTEC	kidney:	n/a
46	chr16:69965257-69965307	SK-N-SH	brain:	n/a
47	chr16:69965257-69965307	NB4	blood:	n/a
48	chr16:69965257-69965307	SKMC	muscle:	n/a
49	chr16:69965257-69965307	AG09309	skin:	n/a
50	chr16:69965257-69965307	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69957939..69963004-chr16:69963560..69969238,6	K562	blood:

No data

Variant related genes	Relation type
WWP2	CpG island
MIR140	CpG island
ENSG00000198373	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10048088	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10048090	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10048129	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1052429	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11645233	0.90[ASN][1000 genomes]
rs11647767	0.86[ASN][1000 genomes]
rs11864678	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12932078	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12932286	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1566452	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983016	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2102066	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270840	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270841	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270842	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2291961	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2362643	0.86[ASN][1000 genomes]
rs3748388	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3762177	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3762178	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985377	0.90[ASN][1000 genomes]
rs4985378	0.90[ASN][1000 genomes]
rs4985379	0.90[ASN][1000 genomes]
rs4985381	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4985451	0.86[ASN][1000 genomes]
rs4985452	0.86[ASN][1000 genomes]
rs4985453	0.86[ASN][1000 genomes]
rs4985454	0.90[ASN][1000 genomes]
rs4985455	0.90[ASN][1000 genomes]
rs4985456	0.90[ASN][1000 genomes]
rs4985459	0.90[ASN][1000 genomes]
rs4985461	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4985463	0.80[AMR][1000 genomes]
rs6499272	0.90[ASN][1000 genomes]
rs6499273	0.82[ASN][1000 genomes]
rs7184994	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7192483	0.90[ASN][1000 genomes]
rs7193518	0.90[ASN][1000 genomes]
rs7206222	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8047818	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8048590	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8048678	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049004	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904803	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs904804	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904805	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904806	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904807	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904808	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs904809	0.90[ASN][1000 genomes]
rs904810	0.90[ASN][1000 genomes]
rs9302605	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv1792580	chr16:69950347-70005207	Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	esv1801278	chr16:69951043-70050770	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv1829103	chr16:69951043-70050770	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	nsv1853	chr16:69962296-70268856	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs8052727	PDXDC2P	cis	Esophagus Muscularis	GTEx
rs8052727	CLEC18A	cis	Skin Sun Exposed Lower leg	GTEx
rs8052727	RP11-419C5.2	cis	Nerve Tibial	GTEx
rs8052727	CLEC18A	cis	Esophagus Mucosa	GTEx
rs8052727	PDXDC2P	cis	Artery Tibial	GTEx
rs8052727	PDXDC2P	cis	Nerve Tibial	GTEx
rs8052727	RP11-419C5.2	cis	Artery Tibial	GTEx
rs8052727	CLEC18A	cis	Thyroid	GTEx
rs8052727	CLEC18A	cis	lung	GTEx
rs8052727	EXOSC6	cis	Muscle Skeletal	GTEx
rs8052727	CLEC18A	cis	Esophagus Muscularis	GTEx
rs8052727	CLEC18A	cis	Adipose Subcutaneous	GTEx
rs8052727	CLEC18A	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69911400-69970200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:69939000-69974000	Weak transcription	Fetal Brain Male	brain
3	chr16:69939600-69967600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr16:69943200-69965600	Weak transcription	Brain Germinal Matrix	brain
5	chr16:69943600-69967000	Weak transcription	Small Intestine	intestine
6	chr16:69945600-69969400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr16:69947600-69977200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr16:69948200-69977400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr16:69948400-69977400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:69952600-69976000	Weak transcription	Hela-S3	cervix
11	chr16:69952800-69966800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr16:69953600-69974800	Weak transcription	A549	lung
13	chr16:69954400-69976000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr16:69956400-69975600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr16:69957400-69977400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr16:69957600-69975400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr16:69957800-69977200	Strong transcription	Fetal Intestine Small	intestine
18	chr16:69958200-69965600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr16:69958200-69972800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr16:69958400-69969800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr16:69958800-69967200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:69959000-69976400	Strong transcription	Thymus	Thymus
23	chr16:69959000-69977200	Strong transcription	Fetal Intestine Large	intestine
24	chr16:69959000-69977600	Strong transcription	Primary T cells from cord blood	blood
25	chr16:69959200-69975400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr16:69959400-69965800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:69959400-69976200	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr16:69959600-69975200	Strong transcription	Fetal Thymus	thymus
29	chr16:69959600-69975600	Strong transcription	Fetal Stomach	stomach
30	chr16:69959800-69970400	Weak transcription	HUVEC	blood vessel
31	chr16:69960000-69966400	Weak transcription	Fetal Lung	lung
32	chr16:69960200-69967400	Weak transcription	HMEC	breast
33	chr16:69960200-69969800	Weak transcription	GM12878-XiMat	blood
34	chr16:69960200-69971600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:69960400-69965800	Weak transcription	Colon Smooth Muscle	Colon
36	chr16:69961400-69967400	Weak transcription	Fetal Kidney	kidney
37	chr16:69961400-69976600	Weak transcription	Right Atrium	heart
38	chr16:69961400-69977000	Weak transcription	HSMM	muscle
39	chr16:69961600-69974800	Weak transcription	Psoas Muscle	Psoas
40	chr16:69961600-69976800	Strong transcription	Spleen	Spleen
41	chr16:69962200-69967600	Weak transcription	NH-A	brain
42	chr16:69962200-69975200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr16:69962400-69976800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr16:69962400-69976800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr16:69962600-69976800	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr16:69962800-69973200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr16:69962800-69974600	Strong transcription	HepG2	liver
48	chr16:69962800-69975200	Strong transcription	Lung	lung
49	chr16:69962800-69975400	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr16:69962800-69975800	Strong transcription	Colonic Mucosa	Colon

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