Variant report

Variant	rs7359478
Chromosome Location	chr16:71825445-71825446
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71823251..71826852-chr16:71839928..71843333,4	K562	blood:
2	chr16:71824921..71831111-chr16:71841037..71844179,8	MCF-7	breast:
3	chr16:71821888..71825986-chr16:71827605..71831800,6	MCF-7	breast:
4	chr16:71820044..71826852-chr16:71835906..71843775,16	K562	blood:
5	chr16:71823070..71825455-chr16:71841320..71842934,2	MCF-7	breast:
6	chr16:71822504..71826095-chr16:71827196..71830655,3	K562	blood:
7	chr16:71820240..71822383-chr16:71824559..71826827,2	K562	blood:

Variant related genes	Relation type
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1058750	1.00[ASN][1000 genomes]
rs10852502	1.00[ASN][1000 genomes]
rs10852503	1.00[ASN][1000 genomes]
rs11075894	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075898	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075901	0.87[EUR][1000 genomes]
rs11075904	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075905	0.90[EUR][1000 genomes]
rs11862723	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12923990	0.80[EUR][1000 genomes]
rs12929547	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364210	1.00[ASN][1000 genomes]
rs1392484	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1423983	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032918	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052584	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2052585	1.00[ASN][1000 genomes]
rs2113223	1.00[ASN][1000 genomes]
rs2133773	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247603	1.00[ASN][1000 genomes]
rs2334877	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2334880	1.00[ASN][1000 genomes]
rs4354946	1.00[ASN][1000 genomes]
rs4788548	1.00[ASN][1000 genomes]
rs4788550	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788553	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788557	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788559	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4788810	1.00[ASN][1000 genomes]
rs4788813	1.00[ASN][1000 genomes]
rs4788820	1.00[ASN][1000 genomes]
rs4788822	1.00[ASN][1000 genomes]
rs4788823	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788828	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788830	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499526	1.00[ASN][1000 genomes]
rs6499527	1.00[ASN][1000 genomes]
rs6499528	1.00[ASN][1000 genomes]
rs6499529	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499530	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499531	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499534	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499538	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499540	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186112	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187948	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188675	1.00[ASN][1000 genomes]
rs7190487	1.00[ASN][1000 genomes]
rs7193549	1.00[ASN][1000 genomes]
rs7195059	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7201712	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7202479	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204118	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7204608	1.00[ASN][1000 genomes]
rs7204967	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7204992	1.00[ASN][1000 genomes]
rs7206470	0.83[ASN][1000 genomes]
rs8044144	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8051968	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052910	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053186	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053745	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8055419	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8062188	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs889568	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9302630	0.83[AMR][1000 genomes]
rs9635524	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979790	1.00[ASN][1000 genomes]
rs9888756	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9929840	0.95[EUR][1000 genomes]
rs9929985	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9930015	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9931074	1.00[ASN][1000 genomes]
rs9934301	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937511	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939458	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7359478	PHLPP2	cis	Muscle Skeletal	GTEx
rs7359478	MARVELD3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71779600-71841800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:71793200-71830400	Weak transcription	Fetal Heart	heart
3	chr16:71808000-71829800	Weak transcription	NHLF	lung
4	chr16:71808400-71828800	Weak transcription	HSMMtube	muscle
5	chr16:71811800-71826600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:71812600-71825800	Weak transcription	Right Atrium	heart
7	chr16:71816000-71840400	Weak transcription	Fetal Kidney	kidney
8	chr16:71821400-71826200	Weak transcription	Fetal Intestine Small	intestine
9	chr16:71821400-71840000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr16:71823200-71826000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr16:71823200-71826200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:71823200-71829000	Weak transcription	Colon Smooth Muscle	Colon
13	chr16:71823200-71829800	Weak transcription	Psoas Muscle	Psoas
14	chr16:71823200-71830000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr16:71823200-71832200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:71823200-71835200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr16:71823200-71840400	Weak transcription	HUVEC	blood vessel
18	chr16:71823200-71841400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:71823400-71825800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr16:71823400-71825800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:71823400-71825800	Weak transcription	NHDF-Ad	bronchial
22	chr16:71823400-71826000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr16:71823400-71826000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:71823400-71826000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr16:71823400-71826000	Weak transcription	Thymus	Thymus
26	chr16:71823400-71826400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr16:71823400-71826400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr16:71823400-71826400	Weak transcription	Fetal Stomach	stomach
29	chr16:71823400-71826400	Weak transcription	Right Ventricle	heart
30	chr16:71823400-71826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr16:71823400-71826600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr16:71823400-71826800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:71823400-71826800	Weak transcription	Lung	lung
34	chr16:71823400-71827200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:71823400-71827200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr16:71823400-71828200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr16:71823400-71828600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr16:71823400-71829600	Weak transcription	Placenta	Placenta
39	chr16:71823400-71829800	Weak transcription	Fetal Lung	lung
40	chr16:71823400-71829800	Weak transcription	Fetal Thymus	thymus
41	chr16:71823400-71830000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr16:71823400-71830200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr16:71823400-71831600	Weak transcription	Fetal Brain Female	brain
44	chr16:71823400-71832000	Weak transcription	Gastric	stomach
45	chr16:71823400-71833000	Weak transcription	HMEC	breast
46	chr16:71823400-71833200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr16:71823400-71834800	Weak transcription	Small Intestine	intestine
48	chr16:71823400-71836000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr16:71823400-71836800	Weak transcription	Brain Germinal Matrix	brain
50	chr16:71823400-71837400	Weak transcription	HSMM	muscle

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