Variant report

Variant	rs4714018
Chromosome Location	chr6:36812717-36812718
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr6:36812635-36812901	GM12891	blood:	n/a	chr6:36812821-36812830

No.	Distal block	Cell Line	Cell type
1	chr6:36794469..36796279-chr6:36812712..36815459,2	K562	blood:
2	chr6:36811002..36813494-chr6:36814165..36817730,3	MCF-7	breast:
3	chr6:36811312..36813099-chr6:36818892..36821190,2	MCF-7	breast:

Variant related genes	Relation type
CPNE5	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1150784	0.85[ASN][1000 genomes]
rs12528273	0.81[JPT][hapmap]
rs2116447	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[ASN][1000 genomes]
rs2293393	0.90[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs2303993	0.95[ASN][1000 genomes]
rs236349	0.81[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs236352	0.97[ASN][1000 genomes]
rs236385	0.90[JPT][hapmap]
rs236386	0.89[JPT][hapmap]
rs3756905	0.95[ASN][1000 genomes]
rs3778016	0.95[ASN][1000 genomes]
rs3778017	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[ASN][1000 genomes]
rs3846871	0.96[ASN][1000 genomes]
rs3957238	0.81[YRI][hapmap]
rs449840	0.89[ASN][1000 genomes]
rs460539	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs4711471	0.91[EUR][1000 genomes]
rs58214515	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62406643	0.94[ASN][1000 genomes]
rs6457963	0.82[ASN][1000 genomes]
rs6909988	0.95[ASN][1000 genomes]
rs6910832	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6914008	0.95[ASN][1000 genomes]
rs6934844	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7743646	0.84[YRI][hapmap]
rs831480	0.86[CHB][hapmap]
rs8472	0.85[ASN][1000 genomes]
rs9349017	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9366920	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9368966	0.96[ASN][1000 genomes]
rs9380616	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9380618	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[ASN][1000 genomes]
rs9380626	0.81[ASN][1000 genomes]
rs9470426	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4714018	PPIL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36808600-36818800	Weak transcription	Dnd41	blood
2	chr6:36808800-36816000	Weak transcription	Spleen	Spleen
3	chr6:36808800-36816600	Weak transcription	Aorta	Aorta
4	chr6:36809000-36813800	Enhancers	Fetal Muscle Leg	muscle
5	chr6:36809000-36816600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:36809000-36818600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:36809000-36820200	Weak transcription	Thymus	Thymus
8	chr6:36809000-36823000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:36809200-36816000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:36809200-36817000	Weak transcription	Brain Anterior Caudate	brain
11	chr6:36809200-36818000	Weak transcription	HSMM	muscle
12	chr6:36809200-36819200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:36809800-36818400	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:36810000-36813000	Enhancers	Fetal Muscle Trunk	muscle
15	chr6:36810800-36813800	Enhancers	Fetal Heart	heart
16	chr6:36811000-36815400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:36811000-36816000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr6:36811000-36816000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:36811200-36814000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:36811200-36815000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:36811400-36813200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr6:36811400-36823200	Weak transcription	Esophagus	oesophagus
23	chr6:36811600-36816200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:36811800-36813800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:36812000-36813400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:36812000-36814400	Enhancers	K562	blood
27	chr6:36812200-36813000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr6:36812200-36813400	Enhancers	Left Ventricle	heart
29	chr6:36812200-36814000	Enhancers	Right Ventricle	heart
30	chr6:36812400-36812800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:36812400-36812800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:36812400-36813000	Enhancers	Brain Cingulate Gyrus	brain
33	chr6:36812400-36813200	Enhancers	Brain Hippocampus Middle	brain
34	chr6:36812400-36813600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:36812400-36813800	Enhancers	Right Atrium	heart
36	chr6:36812400-36814000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:36812600-36812800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:36812600-36812800	Enhancers	Fetal Brain Female	brain
39	chr6:36812600-36812800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr6:36812600-36813200	Enhancers	Brain Substantia Nigra	brain
41	chr6:36812600-36813400	Enhancers	Lung	lung
42	chr6:36812600-36816400	Weak transcription	Brain Germinal Matrix	brain

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