Variant report

Variant	rs922654
Chromosome Location	chr14:56472715-56472716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11622704	0.89[ASN][1000 genomes]
rs1188164	0.80[ASN][1000 genomes]
rs1188165	0.83[ASN][1000 genomes]
rs1188167	0.84[ASN][1000 genomes]
rs1188168	0.84[ASN][1000 genomes]
rs1188169	0.83[ASN][1000 genomes]
rs1188170	0.83[ASN][1000 genomes]
rs1188173	0.83[ASN][1000 genomes]
rs1188177	0.83[ASN][1000 genomes]
rs1188182	0.83[ASN][1000 genomes]
rs1188183	0.83[ASN][1000 genomes]
rs1188189	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1188195	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1188201	0.88[CEU][hapmap];0.86[CHB][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1188202	0.81[CEU][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1188205	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1211177	0.81[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap]
rs922653	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs922656	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs966880	0.83[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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56468200-56473000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:56468800-56472800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:56469600-56473200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr14:56470000-56472800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:56470400-56473000	Enhancers	Fetal Muscle Leg	muscle
6	chr14:56470400-56473000	Enhancers	Stomach Mucosa	stomach
7	chr14:56470800-56472800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:56470800-56473000	Enhancers	Dnd41	blood
9	chr14:56470800-56473200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:56471000-56472800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr14:56471000-56473000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr14:56471000-56473000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr14:56471000-56473200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr14:56471200-56473000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:56471400-56472800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:56471400-56472800	Flanking Active TSS	NH-A	brain
17	chr14:56471600-56472800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:56471600-56473000	Enhancers	Fetal Muscle Trunk	muscle
19	chr14:56471600-56473000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr14:56471800-56472800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr14:56471800-56472800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr14:56472000-56472800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr14:56472000-56472800	Enhancers	NHEK	skin
24	chr14:56472000-56473200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:56472200-56472800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:56472200-56472800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr14:56472200-56473000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:56472200-56473000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:56472200-56473200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr14:56472200-56474200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr14:56472400-56472800	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr14:56472400-56472800	Flanking Active TSS	Ovary	ovary
33	chr14:56472400-56473000	Enhancers	Fetal Brain Female	brain
34	chr14:56472400-56473000	Enhancers	Right Atrium	heart
35	chr14:56472400-56473200	Enhancers	Adipose Nuclei	Adipose
36	chr14:56472400-56473200	Enhancers	NHDF-Ad	bronchial
37	chr14:56472400-56474400	Weak transcription	Primary B cells from cord blood	blood
38	chr14:56472600-56472800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:56472600-56472800	Enhancers	Colonic Mucosa	Colon
40	chr14:56472600-56473000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:56472600-56473000	Weak transcription	GM12878-XiMat	blood
42	chr14:56472600-56473000	Enhancers	Osteobl	bone
43	chr14:56472600-56473200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:56472600-56473400	Enhancers	Fetal Intestine Large	intestine
45	chr14:56472600-56473400	Enhancers	Fetal Intestine Small	intestine

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