Variant report

Variant	rs3821083
Chromosome Location	chr2:172412907-172412908
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172401705..172405203-chr2:172412295..172415295,3	K562	blood:
2	chr2:172411652..172413746-chr2:172420952..172422723,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:21)

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]
rs1047255	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]
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]
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]
rs727231	1.00[ASW][hapmap]
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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs3821083	CYBRD1	Cis_1M	lymphoblastoid	RTeQTL
rs3821083	CYBRD1	cis	Artery Tibial	GTEx
rs3821083	GPR155	cis	parietal	SCAN
rs3821083	CYBRD1	cis	Esophagus Muscularis	GTEx
rs3821083	CYBRD1	cis	cerebellum	SCAN
rs3821083	CYBRD1	cis	Whole Blood	GTEx
rs3821083	CYBRD1	cis	parietal	SCAN
rs3821083	CYBRD1	cis	Adipose Subcutaneous	GTEx
rs3821083	SP5	cis	cerebellum	SCAN

Chromatin state (count:69 , 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	chr2:172388800-172413800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:172388800-172413800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:172388800-172414800	Weak transcription	Brain Angular Gyrus	brain
6	chr2:172388800-172414800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:172396600-172414400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:172398200-172414000	Weak transcription	Brain Anterior Caudate	brain
9	chr2:172400000-172416400	Weak transcription	Gastric	stomach
10	chr2:172400200-172413800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:172406000-172413800	Weak transcription	Esophagus	oesophagus
12	chr2:172406200-172414400	Strong transcription	HSMMtube	muscle
13	chr2:172407200-172413600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:172407200-172414400	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:172407600-172413400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:172408400-172414400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:172409200-172413600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:172410000-172415600	Weak transcription	NHEK	skin
19	chr2:172410200-172413000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr2:172410400-172413400	Strong transcription	Left Ventricle	heart
21	chr2:172410400-172413600	Strong transcription	Adipose Nuclei	Adipose
22	chr2:172410400-172413600	Strong transcription	Fetal Muscle Leg	muscle
23	chr2:172410600-172413200	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr2:172410800-172413000	Strong transcription	Fetal Lung	lung
25	chr2:172410800-172413800	Weak transcription	Fetal Thymus	thymus
26	chr2:172410800-172415800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:172411000-172413000	Strong transcription	Aorta	Aorta
28	chr2:172411000-172413600	Weak transcription	Placenta	Placenta
29	chr2:172411000-172414200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:172411200-172413600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:172411400-172414200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:172411800-172413800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:172411800-172415000	Weak transcription	K562	blood
34	chr2:172411800-172419000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:172412000-172414400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:172412000-172414400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:172412200-172413800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:172412200-172414600	Weak transcription	HSMM	muscle
39	chr2:172412200-172415000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:172412400-172413000	Enhancers	GM12878-XiMat	blood
41	chr2:172412400-172413800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:172412400-172414000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:172412400-172414000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:172412400-172414000	Weak transcription	NH-A	brain
45	chr2:172412400-172414800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:172412400-172415600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:172412400-172416000	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:172412400-172416400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:172412400-172417400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:172412600-172413600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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