Variant report

Variant	rs4261877
Chromosome Location	chr3:50692394-50692395
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	chr3:50690479..50693094-chr3:50743826..50746673,2	K562	blood:
2	chr3:50690938..50693728-chr3:50694642..50698811,4	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1034405	0.83[YRI][hapmap]
rs1385025	0.86[YRI][hapmap]
rs2269505	0.86[YRI][hapmap]
rs2355323	0.86[YRI][hapmap]
rs375544	0.90[YRI][hapmap]
rs3792325	0.90[YRI][hapmap]
rs3792328	0.90[YRI][hapmap]
rs3804627	0.86[YRI][hapmap]
rs388483	0.82[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.87[MEX][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes]
rs396302	0.86[YRI][hapmap]
rs441516	0.86[YRI][hapmap]
rs443436	0.86[YRI][hapmap]
rs448028	0.86[YRI][hapmap]
rs453570	0.86[YRI][hapmap]
rs616589	0.90[YRI][hapmap]
rs6446212	0.90[YRI][hapmap]
rs6446220	0.93[YRI][hapmap]
rs728901	0.89[YRI][hapmap]
rs7646236	0.83[YRI][hapmap]
rs809454	0.85[YRI][hapmap]
rs813243	0.86[YRI][hapmap]
rs900735	0.86[YRI][hapmap]
rs9682401	0.86[YRI][hapmap]

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	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4261877	CELSR3	cis	cerebellum	SCAN
rs4261877	DOCK3	cis	Artery Tibial	GTEx
rs4261877	MAPKAPK3	cis	Thyroid	GTEx
rs4261877	CACNA2D2	cis	parietal	SCAN
rs4261877	NICN1	cis	cerebellum	SCAN
rs4261877	PBRM1	cis	parietal	SCAN
rs4261877	DOCK3	cis	Skin Sun Exposed Lower leg	GTEx
rs4261877	DOCK3	cis	Thyroid	GTEx

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50670400-50699800	Weak transcription	Hela-S3	cervix
2	chr3:50685200-50692800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:50685400-50693000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:50685400-50693000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr3:50685800-50692400	Weak transcription	Osteobl	bone
6	chr3:50685800-50703800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:50686400-50692600	Weak transcription	Fetal Thymus	thymus
8	chr3:50686600-50692800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr3:50686800-50692400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr3:50687000-50696400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:50687000-50712000	Weak transcription	Right Atrium	heart
12	chr3:50687200-50693000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:50687400-50692600	Weak transcription	Primary B cells from cord blood	blood
14	chr3:50687400-50695600	Weak transcription	HMEC	breast
15	chr3:50687600-50692400	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr3:50687600-50692400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr3:50687600-50694200	Weak transcription	Lung	lung
18	chr3:50687600-50697400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr3:50687600-50702400	Weak transcription	Spleen	Spleen
20	chr3:50688000-50692800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr3:50688000-50693600	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:50688200-50702600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:50688800-50702600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:50689000-50693600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:50689200-50692800	Weak transcription	Right Ventricle	heart
26	chr3:50690200-50702200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:50690400-50694400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:50690400-50700200	Weak transcription	Left Ventricle	heart
29	chr3:50691400-50692800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:50691600-50693000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:50691800-50693000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:50691800-50693000	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr3:50691800-50693200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr3:50692000-50693000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr3:50692000-50693000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr3:50692000-50693000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr3:50692000-50693200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:50692000-50693200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr3:50692000-50693200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr3:50692200-50692400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:50692200-50692400	Enhancers	Esophagus	oesophagus
42	chr3:50692200-50692800	Enhancers	HSMM	muscle
43	chr3:50692200-50692800	Enhancers	NHDF-Ad	bronchial
44	chr3:50692200-50693000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:50692200-50693000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:50692200-50693000	Enhancers	NHEK	skin

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