Variant report

Variant	rs236352
Chromosome Location	chr6:36817113-36817114
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36813097..36817689-chr6:36839602..36844147,5	K562	blood:
2	chr6:36816699..36818320-chr6:36819945..36822001,2	MCF-7	breast:
3	chr6:36811002..36813494-chr6:36814165..36817730,3	MCF-7	breast:
4	chr6:36562562..36564924-chr6:36814453..36817314,2	K562	blood:
5	chr6:36815094..36818441-chr6:36826786..36830432,3	K562	blood:
6	chr6:36732942..36735975-chr6:36816237..36818800,3	MCF-7	breast:
7	chr6:36748604..36750587-chr6:36817056..36819076,2	K562	blood:
8	chr6:36799628..36801268-chr6:36817100..36819975,2	K562	blood:
9	chr6:36763852..36766852-chr6:36816015..36817919,3	K562	blood:
10	chr6:36808554..36811671-chr6:36814361..36817752,3	MCF-7	breast:
11	chr6:36815130..36818530-chr6:36818954..36823604,5	K562	blood:
12	chr6:36816600..36820003-chr6:36855117..36857436,3	K562	blood:
13	chr6:36746898..36749135-chr6:36816606..36818141,2	MCF-7	breast:
14	chr6:36802135..36806247-chr6:36814930..36817365,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137168	Chromatin interaction
ENSG00000198663	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1150784	0.87[ASN][1000 genomes]
rs2116447	0.96[ASN][1000 genomes]
rs2293393	0.88[ASN][1000 genomes]
rs2303993	0.96[ASN][1000 genomes]
rs236349	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3756905	0.96[ASN][1000 genomes]
rs3778016	0.96[ASN][1000 genomes]
rs3778017	0.96[ASN][1000 genomes]
rs3846871	0.98[ASN][1000 genomes]
rs449840	0.91[ASN][1000 genomes]
rs4594944	0.82[ASN][1000 genomes]
rs4714018	0.97[ASN][1000 genomes]
rs58214515	0.95[ASN][1000 genomes]
rs62406643	0.95[ASN][1000 genomes]
rs6457963	0.84[ASN][1000 genomes]
rs6909988	0.96[ASN][1000 genomes]
rs6910832	0.92[ASN][1000 genomes]
rs6914008	0.96[ASN][1000 genomes]
rs6934844	0.94[ASN][1000 genomes]
rs8472	0.86[ASN][1000 genomes]
rs9366920	0.94[ASN][1000 genomes]
rs9368966	0.98[ASN][1000 genomes]
rs9380616	0.94[ASN][1000 genomes]
rs9380618	0.96[ASN][1000 genomes]
rs9380626	0.82[ASN][1000 genomes]
rs9470426	0.96[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	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1033261	chr6:36687424-36837315	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv5262	chr6:36799329-36826210	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS 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	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs236352	PPIL1	Cis_1M	lymphoblastoid	RTeQTL
rs236352	PPIL1	cis	Stomach	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36808600-36818800	Weak transcription	Dnd41	blood
2	chr6:36809000-36818600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:36809000-36820200	Weak transcription	Thymus	Thymus
4	chr6:36809000-36823000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:36809200-36818000	Weak transcription	HSMM	muscle
6	chr6:36809200-36819200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:36809800-36818400	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:36811400-36823200	Weak transcription	Esophagus	oesophagus
9	chr6:36813200-36821200	Weak transcription	Brain Hippocampus Middle	brain
10	chr6:36813200-36823200	Weak transcription	Brain Substantia Nigra	brain
11	chr6:36814200-36817600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:36815200-36819200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:36815400-36819800	Enhancers	Fetal Muscle Leg	muscle
14	chr6:36815600-36818400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:36815600-36819800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr6:36815800-36817200	Enhancers	Stomach Mucosa	stomach
17	chr6:36815800-36817600	Enhancers	Fetal Intestine Large	intestine
18	chr6:36816000-36817200	Enhancers	Spleen	Spleen
19	chr6:36816000-36817400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:36816000-36817400	Flanking Active TSS	Fetal Heart	heart
21	chr6:36816000-36817600	Bivalent Enhancer	Fetal Stomach	stomach
22	chr6:36816000-36818200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr6:36816000-36818200	Enhancers	Fetal Thymus	thymus
24	chr6:36816000-36818200	Enhancers	HUVEC	blood vessel
25	chr6:36816000-36819000	Enhancers	Fetal Muscle Trunk	muscle
26	chr6:36816000-36819800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:36816200-36817200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr6:36816200-36817200	Flanking Active TSS	K562	blood
29	chr6:36816200-36819000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:36816400-36817200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr6:36816400-36817200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr6:36816400-36817200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:36816400-36817200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:36816400-36817200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:36816400-36817200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:36816400-36817200	Enhancers	Brain Germinal Matrix	brain
37	chr6:36816400-36817200	Enhancers	Fetal Lung	lung
38	chr6:36816400-36817400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr6:36816400-36817600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:36816400-36818000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:36816400-36818800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:36816600-36817200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr6:36816600-36817200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:36816600-36817200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:36816600-36817200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:36816600-36817200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:36816600-36817200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr6:36816600-36817200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr6:36816600-36817200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:36816600-36817200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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