Variant report

Variant	rs17288294
Chromosome Location	chr2:172403275-172403276
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	chr2:172397977..172400681-chr2:172402000..172404841,3	K562	blood:
2	chr2:172401705..172405203-chr2:172412295..172415295,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCAF17-5	chr2:172402329-172405155	NONHSAT075473

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11687075	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12617802	0.93[CEU][hapmap];0.84[EUR][1000 genomes]
rs12621138	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs12692964	0.85[EUR][1000 genomes]
rs12692965	0.85[EUR][1000 genomes]
rs13009270	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13024499	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17288182	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35050777	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3806562	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs3806563	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs3806564	0.85[EUR][1000 genomes]
rs3806565	0.91[CEU][hapmap];0.85[EUR][1000 genomes]
rs3806566	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs66572658	0.85[EUR][1000 genomes]
rs66818940	0.85[EUR][1000 genomes]
rs66975464	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6704600	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6726306	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67339714	0.85[EUR][1000 genomes]
rs6751899	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs884409	0.83[CEU][hapmap];0.85[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	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer 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
rs17288294	CYBRD1	cis	Whole Blood	GTEx

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172381000-172410400	Weak transcription	Fetal Thymus	thymus
2	chr2:172381200-172404400	Weak transcription	Right Atrium	heart
3	chr2:172381200-172407200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:172381200-172410400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:172381400-172405400	Weak transcription	Fetal Heart	heart
6	chr2:172386400-172419800	Weak transcription	Lung	lung
7	chr2:172387200-172413800	Weak transcription	Spleen	Spleen
8	chr2:172388000-172411400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:172388200-172411000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:172388400-172411800	Weak transcription	Brain Substantia Nigra	brain
11	chr2:172388600-172412400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:172388800-172407400	Weak transcription	HSMM	muscle
13	chr2:172388800-172410400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:172388800-172411000	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:172388800-172413800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:172388800-172413800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:172388800-172414800	Weak transcription	Brain Angular Gyrus	brain
18	chr2:172388800-172414800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:172389000-172404000	Weak transcription	NH-A	brain
20	chr2:172389000-172411000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:172392400-172412200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:172394000-172411200	Weak transcription	NHLF	lung
23	chr2:172396600-172408200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:172396600-172414400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:172397000-172410200	Weak transcription	Placenta	Placenta
26	chr2:172397600-172405400	Strong transcription	HSMMtube	muscle
27	chr2:172398200-172408400	Weak transcription	Fetal Intestine Small	intestine
28	chr2:172398200-172414000	Weak transcription	Brain Anterior Caudate	brain
29	chr2:172398400-172411200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:172399400-172407400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:172399400-172409400	Weak transcription	NHEK	skin
32	chr2:172399400-172410400	Weak transcription	Right Ventricle	heart
33	chr2:172399400-172411000	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:172399600-172409600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:172400000-172403400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:172400000-172403800	Weak transcription	Osteobl	bone
37	chr2:172400000-172409800	Weak transcription	K562	blood
38	chr2:172400000-172410200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:172400000-172410200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:172400000-172410200	Weak transcription	Ovary	ovary
41	chr2:172400000-172410400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:172400000-172410400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:172400000-172410400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:172400000-172410400	Weak transcription	Left Ventricle	heart
45	chr2:172400000-172410400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr2:172400000-172410800	Weak transcription	Fetal Lung	lung
47	chr2:172400000-172411000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:172400000-172416400	Weak transcription	Gastric	stomach
49	chr2:172400200-172413800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:172400600-172405400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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