Variant report

Variant	rs1047255
Chromosome Location	chr2:172412008-172412009
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172284791..172287152-chr2:172410129..172412557,2	K562	blood:
2	chr2:172411652..172413746-chr2:172420952..172422723,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1047023	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1047109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17221848	1.00[CHB][hapmap]
rs17222641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17288588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55638996	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55852614	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55862034	0.83[ASN][1000 genomes]
rs55877758	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56228832	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56372408	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72884332	0.83[ASN][1000 genomes]
rs72884356	0.83[ASN][1000 genomes]
rs72884400	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72885909	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72885911	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72885915	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72885917	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585974	0.83[ASN][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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1047255	CYBRD1	cis	Whole Blood	GTEx
rs1047255	CYBRD1	cis	Esophagus Muscularis	GTEx
rs1047255	CYBRD1	cis	Artery Tibial	GTEx
rs1047255	CYBRD1	cis	Adipose Subcutaneous	GTEx
rs1047255	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172386400-172419800	Weak transcription	Lung	lung
2	chr2:172387200-172413800	Weak transcription	Spleen	Spleen
3	chr2:172388600-172412400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:172388800-172413800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:172388800-172413800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:172388800-172414800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:172388800-172414800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:172392400-172412200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr2:172396600-172414400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:172398200-172414000	Weak transcription	Brain Anterior Caudate	brain
11	chr2:172400000-172416400	Weak transcription	Gastric	stomach
12	chr2:172400200-172413800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:172406000-172413800	Weak transcription	Esophagus	oesophagus
14	chr2:172406200-172414400	Strong transcription	HSMMtube	muscle
15	chr2:172407200-172413600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:172407200-172414400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr2:172407600-172413400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:172408200-172412400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:172408400-172414400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:172409200-172413600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:172409600-172412800	Strong transcription	NHDF-Ad	bronchial
22	chr2:172410000-172415600	Weak transcription	NHEK	skin
23	chr2:172410200-172413000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr2:172410400-172412200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:172410400-172412400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:172410400-172412400	Strong transcription	Primary hematopoietic stem cells	blood
27	chr2:172410400-172412600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr2:172410400-172412600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:172410400-172412600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:172410400-172412600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:172410400-172412600	Strong transcription	Fetal Stomach	stomach
32	chr2:172410400-172412600	Strong transcription	Right Ventricle	heart
33	chr2:172410400-172412600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr2:172410400-172412800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:172410400-172413400	Strong transcription	Left Ventricle	heart
36	chr2:172410400-172413600	Strong transcription	Adipose Nuclei	Adipose
37	chr2:172410400-172413600	Strong transcription	Fetal Muscle Leg	muscle
38	chr2:172410600-172412200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:172410600-172412800	Weak transcription	Thymus	Thymus
40	chr2:172410600-172413200	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr2:172410800-172412200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:172410800-172413000	Strong transcription	Fetal Lung	lung
43	chr2:172410800-172413800	Weak transcription	Fetal Thymus	thymus
44	chr2:172410800-172415800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:172411000-172412200	Strong transcription	HSMM	muscle
46	chr2:172411000-172412400	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:172411000-172412400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:172411000-172412400	Strong transcription	Colon Smooth Muscle	Colon
49	chr2:172411000-172412400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:172411000-172412400	Strong transcription	Placenta Amnion	Placenta Amnion

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