Variant report

Variant	rs17824323
Chromosome Location	chr14:63690297-63690298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10145453	0.88[GIH][hapmap]
rs10483766	0.94[GIH][hapmap]
rs2057133	0.94[GIH][hapmap]
rs718362	0.88[GIH][hapmap]
rs769055	0.94[GIH][hapmap]
rs8012836	0.94[GIH][hapmap]

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	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv564893	chr14:63526931-63796122	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1045599	chr14:63540073-63765152	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17824323	SNAPC1	cis	cerebellum	SCAN
rs17824323	UCHL1	trans	lymphoblastoid	seeQTL
rs17824323	SIX1	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63672000-63717000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:63673400-63691000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:63676200-63707600	Weak transcription	Aorta	Aorta
4	chr14:63676400-63733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:63679400-63717000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:63680600-63690600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr14:63681600-63690800	Weak transcription	Fetal Stomach	stomach
8	chr14:63681600-63691000	Weak transcription	Left Ventricle	heart
9	chr14:63681600-63691000	Weak transcription	Psoas Muscle	Psoas
10	chr14:63681600-63694600	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:63682200-63690400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:63682200-63690600	Weak transcription	Fetal Lung	lung
13	chr14:63688400-63690600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr14:63688600-63690600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:63688600-63696000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:63689600-63691600	Enhancers	NH-A	brain
17	chr14:63689800-63690400	Genic enhancers	HUVEC	blood vessel
18	chr14:63689800-63691200	Enhancers	Colon Smooth Muscle	Colon
19	chr14:63690000-63690400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:63690000-63690600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:63690000-63691000	Weak transcription	Right Atrium	heart
22	chr14:63690000-63691600	Enhancers	Fetal Heart	heart
23	chr14:63690000-63691800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr14:63690200-63691000	Weak transcription	Ovary	ovary
25	chr14:63690200-63691200	Enhancers	Placenta Amnion	Placenta Amnion

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