Variant report

Variant	rs7202479
Chromosome Location	chr16:71759679-71759680
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:71759512-71759832	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:71756712..71759795-chr16:71768156..71771579,4	MCF-7	breast:
2	chr16:71756413..71761113-chr16:71764688..71769079,7	K562	blood:
3	chr16:71748955..71755873-chr16:71756069..71760101,14	MCF-7	breast:
4	chr16:71658952..71666464-chr16:71755738..71760832,8	MCF-7	breast:
5	chr16:71755880..71759578-chr16:71759607..71764621,8	MCF-7	breast:
6	chr16:71756383..71758703-chr16:71759355..71761226,2	MCF-7	breast:
7	chr16:71759512..71761382-chr16:71841160..71843189,2	K562	blood:
8	chr16:71758014..71760790-chr16:71779924..71782486,2	K562	blood:

No data

Variant related genes	Relation type
PHLPP2	TF binding region
ENSG00000260612	TF binding region
ENSG00000260593	Chromatin interaction
ENSG00000140832	Chromatin interaction
ENSG00000040199	Chromatin interaction
ENSG00000166747	Chromatin interaction
ENSG00000261513	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1058750	1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10852502	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10852503	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075893	0.88[EUR][1000 genomes]
rs11075894	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075898	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075901	1.00[JPT][hapmap]
rs11075904	1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075905	0.81[EUR][1000 genomes]
rs11862723	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12923990	0.92[EUR][1000 genomes]
rs12929547	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364210	1.00[ASN][1000 genomes]
rs1392484	1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1423983	1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032918	1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052584	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052585	1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2113223	1.00[ASN][1000 genomes]
rs2133773	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247603	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2334877	0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2334880	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4354946	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788548	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788550	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788553	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788557	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788559	0.81[EUR][1000 genomes]
rs4788810	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4788813	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4788820	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788822	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788823	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788825	0.89[EUR][1000 genomes]
rs4788828	1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788830	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499526	1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499527	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499528	1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499529	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499530	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499531	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499534	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499538	1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499540	1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186112	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187948	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188675	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7190487	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193549	1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7195059	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7201649	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7204118	0.88[EUR][1000 genomes]
rs7204608	1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204967	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204992	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7206470	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7359478	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044144	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8051968	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052910	0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053186	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053745	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055419	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs8058297	0.90[EUR][1000 genomes]
rs8062188	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs889568	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9635524	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979790	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888756	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9929840	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs9929985	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9930015	1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9931074	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934301	1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934715	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9934789	0.81[EUR][1000 genomes]
rs9937511	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939458	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv1817133	chr16:71705908-71837477	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS 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	15 gene(s)	inside rSNPs	diseases
3	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	esv1819402	chr16:71755852-71816899	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7202479	PHLPP2	cis	Muscle Skeletal	GTEx
rs7202479	MARVELD3	cis	Skin Sun Exposed Lower leg	GTEx
rs7202479	PHLPP2	cis	Artery Aorta	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71758200-71760000	Weak transcription	Lung	lung
2	chr16:71758200-71761000	Weak transcription	Small Intestine	intestine
3	chr16:71758200-71765200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr16:71758200-71766200	Weak transcription	Gastric	stomach
5	chr16:71758400-71759800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr16:71758400-71760400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr16:71758400-71760600	Enhancers	Colonic Mucosa	Colon
8	chr16:71758400-71760800	Weak transcription	Brain Anterior Caudate	brain
9	chr16:71758400-71760800	Weak transcription	Ovary	ovary
10	chr16:71758400-71761000	Weak transcription	Aorta	Aorta
11	chr16:71758400-71761800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:71758400-71762000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:71758400-71762600	Enhancers	Liver	Liver
14	chr16:71758400-71762800	Enhancers	Primary B cells from peripheral blood	blood
15	chr16:71758400-71763200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:71758400-71763400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:71758400-71763400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr16:71758400-71763600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr16:71758400-71763800	Weak transcription	Fetal Stomach	stomach
20	chr16:71758400-71763800	Weak transcription	NHDF-Ad	bronchial
21	chr16:71758400-71764000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr16:71758400-71764000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr16:71758400-71764000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr16:71758400-71764200	Weak transcription	HSMM	muscle
25	chr16:71758400-71764200	Weak transcription	HSMMtube	muscle
26	chr16:71758400-71764200	Weak transcription	NH-A	brain
27	chr16:71758400-71764400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr16:71758400-71764400	Weak transcription	Brain Angular Gyrus	brain
29	chr16:71758400-71764400	Weak transcription	Brain Germinal Matrix	brain
30	chr16:71758400-71764400	Weak transcription	Left Ventricle	heart
31	chr16:71758400-71764800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr16:71758400-71765400	Weak transcription	Fetal Brain Female	brain
33	chr16:71758400-71765600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr16:71758400-71765600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:71758400-71765600	Weak transcription	Brain Substantia Nigra	brain
36	chr16:71758400-71765600	Weak transcription	Fetal Brain Male	brain
37	chr16:71758400-71765600	Weak transcription	Fetal Lung	lung
38	chr16:71758400-71765600	Weak transcription	Pancreas	Pancrea
39	chr16:71758400-71765600	Weak transcription	Spleen	Spleen
40	chr16:71758400-71765800	Weak transcription	Right Ventricle	heart
41	chr16:71758400-71766200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr16:71758400-71766200	Weak transcription	Psoas Muscle	Psoas
43	chr16:71758400-71766400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:71758400-71766400	Weak transcription	Esophagus	oesophagus
45	chr16:71758400-71766400	Weak transcription	Right Atrium	heart
46	chr16:71758400-71771000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr16:71758600-71759800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr16:71758600-71760000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr16:71758600-71760200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr16:71758600-71760200	Weak transcription	Adipose Nuclei	Adipose

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