Variant report

Variant	rs1892296
Chromosome Location	chr14:69509799-69509800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69504422..69507358-chr14:69508879..69511159,3	K562	blood:
2	chr14:69443082..69446531-chr14:69508749..69512052,3	MCF-7	breast:
3	chr14:69504745..69507053-chr14:69509221..69511186,2	K562	blood:
4	chr14:69509516..69511867-chr14:69516785..69518718,2	K562	blood:
5	chr14:69509691..69512207-chr14:69526446..69528305,2	MCF-7	breast:
6	chr14:69504480..69506632-chr14:69509556..69511632,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259062	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10130013	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10134578	0.92[EUR][1000 genomes]
rs10135127	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10135643	0.83[EUR][1000 genomes]
rs10135971	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10143302	0.92[EUR][1000 genomes]
rs10145565	0.93[EUR][1000 genomes]
rs10146649	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10148614	0.93[EUR][1000 genomes]
rs10151376	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11158780	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11158782	0.93[EUR][1000 genomes]
rs11158787	0.90[EUR][1000 genomes]
rs12323738	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12431846	0.93[EUR][1000 genomes]
rs12434775	0.93[EUR][1000 genomes]
rs12435594	0.90[EUR][1000 genomes]
rs12589028	0.93[EUR][1000 genomes]
rs12881049	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12885977	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12891103	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1914004	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1973677	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2001998	0.88[EUR][1000 genomes]
rs2331918	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35538328	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4338726	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4899280	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7151797	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs7160629	0.93[EUR][1000 genomes]
rs761899	0.85[AMR][1000 genomes]
rs8017103	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1892296	WDR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69505400-69510000	Weak transcription	Fetal Heart	heart
2	chr14:69505400-69510200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:69505800-69509800	Weak transcription	Placenta	Placenta
4	chr14:69505800-69509800	Weak transcription	Left Ventricle	heart
5	chr14:69505800-69509800	Weak transcription	Right Atrium	heart
6	chr14:69505800-69510600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:69505800-69510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:69506000-69511200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:69506200-69510000	Weak transcription	Right Ventricle	heart
10	chr14:69506400-69509800	Weak transcription	NHLF	lung
11	chr14:69506400-69510200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:69506400-69510400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:69506600-69511000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:69506800-69509800	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:69506800-69510200	Weak transcription	HMEC	breast
16	chr14:69507200-69509800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:69507200-69510000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr14:69507200-69510800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:69508000-69510000	Enhancers	Fetal Kidney	kidney
20	chr14:69508400-69511200	Enhancers	Duodenum Mucosa	Duodenum
21	chr14:69508600-69510000	Enhancers	Adipose Nuclei	Adipose
22	chr14:69508600-69510000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr14:69508600-69510800	Enhancers	Brain Angular Gyrus	brain
24	chr14:69508600-69511600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr14:69508600-69512200	Enhancers	HSMMtube	muscle
26	chr14:69508600-69513200	Enhancers	Fetal Intestine Small	intestine
27	chr14:69508600-69513400	Enhancers	Fetal Intestine Large	intestine
28	chr14:69508800-69509800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:69508800-69509800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr14:69508800-69510000	Enhancers	Brain Anterior Caudate	brain
31	chr14:69508800-69510200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:69508800-69513000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr14:69508800-69513800	Enhancers	Brain Hippocampus Middle	brain
34	chr14:69508800-69513800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr14:69508800-69513800	Enhancers	NHDF-Ad	bronchial
36	chr14:69508800-69514600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr14:69508800-69516600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:69508800-69518000	Enhancers	Fetal Muscle Leg	muscle
39	chr14:69509000-69510400	Weak transcription	Aorta	Aorta
40	chr14:69509000-69510800	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr14:69509000-69510800	Enhancers	Stomach Mucosa	stomach
42	chr14:69509000-69511800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:69509000-69513800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr14:69509200-69510000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:69509200-69510400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr14:69509200-69510600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:69509200-69510800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr14:69509200-69512800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr14:69509400-69509800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr14:69509400-69509800	Enhancers	Primary hematopoietic stem cells	blood

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