Variant report

Variant	rs9545179
Chromosome Location	chr13:80298358-80298359
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:80298179..80299787-chr13:80311880..80314794,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1335293	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1577404	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2027152	0.82[EUR][1000 genomes]
rs2039552	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2039553	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2095470	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2329119	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2329120	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4591027	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7139876	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8001312	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs915260	0.90[AFR][1000 genomes]
rs9530951	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9565521	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9574460	0.87[AMR][1000 genomes];0.81[EUR][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	nsv900588	chr13:80216846-80421340	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv900589	chr13:80250511-80310295	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1039333	chr13:80289936-80333167	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9545179	POU4F1	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:80296600-80299200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr13:80296600-80300600	Enhancers	HSMM	muscle
3	chr13:80296600-80301400	Enhancers	Fetal Intestine Small	intestine
4	chr13:80296600-80301600	Enhancers	Fetal Intestine Large	intestine
5	chr13:80296800-80300000	Enhancers	Fetal Heart	heart
6	chr13:80296800-80300400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr13:80297200-80299600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr13:80297200-80300800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:80297400-80298800	Enhancers	Adipose Nuclei	Adipose
10	chr13:80297400-80298800	Enhancers	Brain Hippocampus Middle	brain
11	chr13:80297400-80298800	Enhancers	HUVEC	blood vessel
12	chr13:80297400-80299200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:80297400-80299600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:80297400-80299600	Enhancers	Fetal Stomach	stomach
15	chr13:80297400-80300200	Enhancers	Duodenum Mucosa	Duodenum
16	chr13:80297600-80298400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr13:80297600-80299200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:80297600-80299200	Enhancers	NHEK	skin
19	chr13:80297600-80299400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:80297600-80299400	Enhancers	Stomach Mucosa	stomach
21	chr13:80297600-80300400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:80297800-80298800	Weak transcription	Colon Smooth Muscle	Colon
23	chr13:80297800-80299400	Enhancers	Fetal Kidney	kidney
24	chr13:80298000-80298400	Enhancers	Fetal Brain Male	brain
25	chr13:80298000-80298400	Enhancers	HepG2	liver
26	chr13:80298000-80298600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr13:80298000-80298600	Enhancers	Brain Angular Gyrus	brain
28	chr13:80298000-80299000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr13:80298000-80299000	Active TSS	A549	lung
30	chr13:80298000-80299200	Enhancers	HMEC	breast
31	chr13:80298000-80300600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:80298000-80300600	Enhancers	Fetal Lung	lung
33	chr13:80298200-80298600	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr13:80298200-80299000	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr13:80298200-80299000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr13:80298200-80299000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr13:80298200-80299200	Weak transcription	Pancreas	Pancrea
38	chr13:80298200-80299400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr13:80298200-80299400	Weak transcription	Fetal Muscle Leg	muscle
40	chr13:80298200-80299400	Weak transcription	Left Ventricle	heart
41	chr13:80298200-80299600	Enhancers	Psoas Muscle	Psoas
42	chr13:80298200-80299600	Weak transcription	Small Intestine	intestine
43	chr13:80298200-80302200	Enhancers	HSMMtube	muscle

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