Variant report

Variant	rs7202840
Chromosome Location	chr16:71824714-71824715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:71823251..71826852-chr16:71839928..71843333,4	K562	blood:
2	chr16:71823922..71825442-chr16:71825823..71828696,2	K562	blood:
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:
8	chr16:71818651..71820416-chr16:71822467..71824853,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166747	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10500560	0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs10500567	1.00[CHB][hapmap]
rs10852505	1.00[CHB][hapmap]
rs11075903	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11075910	1.00[CHB][hapmap]
rs11639902	1.00[CHB][hapmap]
rs11640830	0.85[ASN][1000 genomes]
rs11641113	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11642526	0.92[ASN][1000 genomes]
rs11642529	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11644740	1.00[CHB][hapmap]
rs11645704	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11645725	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11648483	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11648557	1.00[CHB][hapmap]
rs11861296	0.86[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11865456	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs12149307	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs12149325	1.00[CHB][hapmap]
rs12149460	0.85[CEU][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12445161	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12445564	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs12445641	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs12446005	0.90[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs12447094	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12448022	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12708919	1.00[CHB][hapmap]
rs12919271	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12928939	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.86[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12933007	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12934512	1.00[CHB][hapmap]
rs12935106	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345868	0.90[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs17357420	1.00[CHB][hapmap];0.96[GIH][hapmap]
rs17358402	1.00[CHB][hapmap]
rs2288030	1.00[CHB][hapmap]
rs2878494	1.00[CHB][hapmap]
rs34053338	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34358623	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34531032	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34680964	0.90[CEU][hapmap];0.96[GIH][hapmap];0.86[TSI][hapmap]
rs34731378	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34998650	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35706035	0.89[ASN][1000 genomes]
rs3751820	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs4528577	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs4788568	1.00[CHB][hapmap]
rs4788579	1.00[CHB][hapmap]
rs71386932	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7188591	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs7190257	1.00[JPT][hapmap]
rs7195988	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs7197104	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197486	1.00[CHB][hapmap];0.82[GIH][hapmap]
rs7198834	0.96[GIH][hapmap]
rs7205340	0.86[CEU][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs8049163	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8050058	1.00[CHB][hapmap];0.96[GIH][hapmap]
rs8051878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052358	0.96[GIH][hapmap]
rs8057568	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9940234	1.00[CHB][hapmap];0.82[GIH][hapmap]

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
rs7202840	PHLPP2	cis	lymphoblastoid	seeQTL
rs7202840	PHLPP2	cis	cerebellum	SCAN

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	chr16:71821400-71824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr16:71821400-71826200	Weak transcription	Fetal Intestine Small	intestine
10	chr16:71821400-71840000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr16:71823200-71824800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr16:71823200-71824800	Weak transcription	Brain Hippocampus Middle	brain
13	chr16:71823200-71825400	Weak transcription	Primary T cells from cord blood	blood
14	chr16:71823200-71826000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:71823200-71826200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr16:71823200-71829000	Weak transcription	Colon Smooth Muscle	Colon
17	chr16:71823200-71829800	Weak transcription	Psoas Muscle	Psoas
18	chr16:71823200-71830000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr16:71823200-71832200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:71823200-71835200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr16:71823200-71840400	Weak transcription	HUVEC	blood vessel
22	chr16:71823200-71841400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr16:71823400-71824800	Weak transcription	Left Ventricle	heart
24	chr16:71823400-71824800	Weak transcription	Ovary	ovary
25	chr16:71823400-71824800	Weak transcription	Spleen	Spleen
26	chr16:71823400-71825400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:71823400-71825400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr16:71823400-71825400	Weak transcription	Primary B cells from cord blood	blood
29	chr16:71823400-71825800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr16:71823400-71825800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr16:71823400-71825800	Weak transcription	NHDF-Ad	bronchial
32	chr16:71823400-71826000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr16:71823400-71826000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:71823400-71826000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr16:71823400-71826000	Weak transcription	Thymus	Thymus
36	chr16:71823400-71826400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr16:71823400-71826400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:71823400-71826400	Weak transcription	Fetal Stomach	stomach
39	chr16:71823400-71826400	Weak transcription	Right Ventricle	heart
40	chr16:71823400-71826600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr16:71823400-71826600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr16:71823400-71826800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr16:71823400-71826800	Weak transcription	Lung	lung
44	chr16:71823400-71827200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:71823400-71827200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr16:71823400-71828200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr16:71823400-71828600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr16:71823400-71829600	Weak transcription	Placenta	Placenta
49	chr16:71823400-71829800	Weak transcription	Fetal Lung	lung
50	chr16:71823400-71829800	Weak transcription	Fetal Thymus	thymus

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