Variant report

Variant	rs4097
Chromosome Location	chr14:56441092-56441093
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56399761..56402429-chr14:56440899..56442886,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1188139	0.81[EUR][1000 genomes]
rs1188184	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1188185	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1188186	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4097	EXOC5	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56438400-56443600	Weak transcription	Fetal Brain Female	brain
2	chr14:56439200-56451200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:56439800-56442200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr14:56440000-56442400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:56440000-56443400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:56440000-56443600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:56440000-56444200	Enhancers	Stomach Mucosa	stomach
8	chr14:56440000-56446200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr14:56440000-56446400	Enhancers	Brain Germinal Matrix	brain
10	chr14:56440600-56441400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:56440600-56441600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:56440800-56441200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:56440800-56441200	Enhancers	Psoas Muscle	Psoas
14	chr14:56440800-56441400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:56440800-56441400	Enhancers	Fetal Muscle Leg	muscle
16	chr14:56440800-56441800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:56440800-56444000	Enhancers	Fetal Kidney	kidney
18	chr14:56441000-56441200	Enhancers	Brain Substantia Nigra	brain
19	chr14:56441000-56441200	Enhancers	Fetal Heart	heart
20	chr14:56441000-56441200	Enhancers	Gastric	stomach
21	chr14:56441000-56441200	Enhancers	Left Ventricle	heart
22	chr14:56441000-56442000	Weak transcription	Brain Anterior Caudate	brain
23	chr14:56441000-56443800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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