Variant report

Variant	rs1188185
Chromosome Location	chr14:56442092-56442093
allele	C/T
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: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1188136	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1188140	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1188141	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1188142	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1188144	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1188145	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1188184	0.82[ASN][1000 genomes]
rs1188186	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1188205	0.82[JPT][hapmap]
rs1471548	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4097	0.87[EUR][1000 genomes];0.84[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

No data

Chromatin state (count:25 , 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	chr14:56440800-56444000	Enhancers	Fetal Kidney	kidney
11	chr14:56441000-56443800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:56441200-56442200	Weak transcription	Brain Substantia Nigra	brain
13	chr14:56441200-56442200	Weak transcription	Psoas Muscle	Psoas
14	chr14:56441200-56442400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr14:56441200-56443000	Weak transcription	Fetal Heart	heart
16	chr14:56441200-56445600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:56441400-56442400	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:56441600-56443000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:56441600-56445800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:56441800-56442400	Enhancers	Gastric	stomach
21	chr14:56441800-56443600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr14:56441800-56444800	Weak transcription	Pancreas	Pancrea
23	chr14:56442000-56442400	Enhancers	Brain Anterior Caudate	brain
24	chr14:56442000-56442600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:56442000-56442600	Enhancers	Brain Hippocampus Middle	brain

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