Variant report

Variant	rs2722757
Chromosome Location	chr19:44889660-44889661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12463008	0.86[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912110	chr19:44840789-44902190	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv912111	chr19:44852134-44902190	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv579855	chr19:44852134-44930348	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv515911	chr19:44852134-44935019	Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv579856	chr19:44855757-44899820	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv912113	chr19:44858776-44928885	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv1062330	chr19:44863939-44938277	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv960889	chr19:44877441-44913480	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv2763206	chr19:44885379-44941728	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2722757	TSKS	cis	parietal	SCAN
rs2722757	KLK9	cis	cerebellum	SCAN
rs2722757	FPR1	cis	parietal	SCAN
rs2722757	QPCTL	cis	cerebellum	SCAN
rs2722757	FTL	cis	cerebellum	SCAN
rs2722757	SIGLEC5	cis	cerebellum	SCAN
rs2722757	KLC3	cis	cerebellum	SCAN
rs2722757	KLK13	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44885200-44889800	Weak transcription	Left Ventricle	heart
2	chr19:44886400-44890400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr19:44887800-44890200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr19:44888200-44889800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:44888200-44889800	Weak transcription	Brain Germinal Matrix	brain
6	chr19:44888200-44893800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr19:44888200-44904800	Weak transcription	Fetal Brain Male	brain
8	chr19:44888400-44890000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr19:44888400-44890000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:44888400-44890400	Weak transcription	Brain Anterior Caudate	brain
11	chr19:44888400-44891000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr19:44888600-44890400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr19:44888600-44893800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:44888800-44890400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr19:44889000-44890400	Weak transcription	Brain Substantia Nigra	brain
16	chr19:44889000-44893800	Weak transcription	Fetal Intestine Large	intestine
17	chr19:44889000-44894000	Weak transcription	Fetal Stomach	stomach
18	chr19:44889000-44905000	Weak transcription	Right Ventricle	heart
19	chr19:44889200-44889800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:44889200-44890000	Weak transcription	Fetal Lung	lung
21	chr19:44889200-44890400	Weak transcription	Pancreas	Pancrea
22	chr19:44889200-44890800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:44889200-44893000	Weak transcription	Fetal Heart	heart
24	chr19:44889200-44896200	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr19:44889400-44892000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr19:44889600-44890000	Weak transcription	Fetal Muscle Leg	muscle
27	chr19:44889600-44890800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
28	chr19:44889600-44892400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:44889600-44892600	Strong transcription	Brain Hippocampus Middle	brain
30	chr19:44889600-44892600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr19:44889600-44896800	Strong transcription	Fetal Brain Female	brain
32	chr19:44889600-44897600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr19:44889600-44899600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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