Variant report

Variant	rs17090733
Chromosome Location	chr14:56405445-56405446
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10131814	0.94[EUR][1000 genomes]
rs10135946	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10140158	0.94[EUR][1000 genomes]
rs10151037	0.94[EUR][1000 genomes]
rs11623085	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11624430	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11624604	0.84[ASN][1000 genomes]
rs11624693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11624789	0.92[ASN][1000 genomes]
rs2342853	0.87[CHB][hapmap]
rs28401671	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28622335	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67547219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs944446	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901966	chr14:56160904-56436203	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv901977	chr14:56213392-56492996	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv34106	chr14:56346245-56550642	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1043948	chr14:56393578-56423793	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1048063	chr14:56401045-56428160	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1040791	chr14:56401927-56424831	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17090733	C14orf37	cis	cerebellum	SCAN
rs17090733	RPL13AP3	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56403400-56405600	Enhancers	Fetal Heart	heart
2	chr14:56403400-56405600	Enhancers	Fetal Muscle Leg	muscle
3	chr14:56403600-56406000	Enhancers	Brain Germinal Matrix	brain
4	chr14:56404000-56406000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr14:56404200-56405600	Enhancers	Brain Substantia Nigra	brain
6	chr14:56404200-56405800	Enhancers	Brain Hippocampus Middle	brain
7	chr14:56404200-56406000	Enhancers	Fetal Brain Female	brain
8	chr14:56404200-56411600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr14:56404400-56405600	Enhancers	HSMMtube	muscle
10	chr14:56404400-56405800	Enhancers	HMEC	breast
11	chr14:56404400-56406000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:56404400-56406000	Enhancers	Colon Smooth Muscle	Colon
13	chr14:56404400-56407000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:56404800-56405600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:56404800-56405600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:56404800-56405600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:56404800-56405600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:56404800-56405600	Enhancers	Fetal Muscle Trunk	muscle
19	chr14:56404800-56405800	Enhancers	NHEK	skin
20	chr14:56405000-56405600	Enhancers	Stomach Mucosa	stomach
21	chr14:56405000-56405600	Enhancers	Osteobl	bone
22	chr14:56405200-56405600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:56405200-56405600	Enhancers	Brain Anterior Caudate	brain
24	chr14:56405200-56405600	Flanking Active TSS	NHDF-Ad	bronchial
25	chr14:56405200-56408800	Weak transcription	Esophagus	oesophagus
26	chr14:56405400-56405600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr14:56405400-56406200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:56405400-56408600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:56405400-56408800	Weak transcription	Fetal Brain Male	brain

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