Variant report

Variant	rs73834125
Chromosome Location	chr3:49949777-49949778
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49949742..49951571-chr3:49951918..49953563,2	K562	blood:
2	chr3:49938059..49942397-chr3:49945875..49951610,6	K562	blood:
3	chr3:49939809..49942397-chr3:49948485..49950283,3	K562	blood:

Variant related genes	Relation type
ENSG00000164078	Chromatin interaction
ENSG00000228008	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12107362	1.00[AMR][1000 genomes]
rs12107386	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050905	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050921	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17050924	1.00[AMR][1000 genomes]
rs2230592	0.89[AFR][1000 genomes]
rs28424211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35340753	0.89[AFR][1000 genomes]
rs55750059	1.00[AMR][1000 genomes]
rs55913179	1.00[AMR][1000 genomes]
rs56057035	0.89[AFR][1000 genomes]
rs56263643	1.00[AMR][1000 genomes]
rs56297242	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56352827	0.87[AFR][1000 genomes]
rs57347154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58095278	1.00[AMR][1000 genomes]
rs58363428	1.00[AMR][1000 genomes]
rs58688714	1.00[AMR][1000 genomes]
rs59822920	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60065407	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60234882	1.00[AMR][1000 genomes]
rs60844685	1.00[AMR][1000 genomes]
rs61156427	1.00[AFR][1000 genomes]
rs61435065	1.00[AMR][1000 genomes]
rs73832783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73832789	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73832800	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73832801	1.00[AMR][1000 genomes]
rs73834118	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73834119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73834120	1.00[AMR][1000 genomes]
rs73834127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835208	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796352	chr3:49687101-49949959	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv876766	chr3:49817450-49961780	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49941800-49950200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:49943600-49950800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:49943800-49966000	Weak transcription	Psoas Muscle	Psoas
4	chr3:49944000-49954000	Weak transcription	NHDF-Ad	bronchial
5	chr3:49944200-49949800	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:49944200-49956200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:49944200-49962000	Weak transcription	HepG2	liver
8	chr3:49944200-49962000	Weak transcription	HSMM	muscle
9	chr3:49944200-49962000	Weak transcription	NH-A	brain
10	chr3:49944200-49966000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:49944400-49950400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr3:49944400-49950600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:49944400-49952600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:49944400-49952800	Weak transcription	GM12878-XiMat	blood
15	chr3:49944400-49955000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr3:49944400-49966000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:49944400-49966000	Weak transcription	HUVEC	blood vessel
18	chr3:49944600-49950800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr3:49944600-49961800	Weak transcription	Hela-S3	cervix
20	chr3:49944800-49951400	Strong transcription	Fetal Muscle Leg	muscle
21	chr3:49945000-49950800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:49945200-49950800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr3:49945200-49950800	Strong transcription	Fetal Stomach	stomach
24	chr3:49945400-49950800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:49945400-49950800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:49945400-49950800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:49945400-49950800	Strong transcription	Thymus	Thymus
28	chr3:49945400-49951000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:49945600-49950000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr3:49945600-49950600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr3:49945600-49950800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr3:49945600-49950800	Strong transcription	Fetal Brain Female	brain
33	chr3:49945600-49950800	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:49945600-49950800	Strong transcription	Dnd41	blood
35	chr3:49945600-49951000	Strong transcription	Primary T cells from cord blood	blood
36	chr3:49945600-49951400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr3:49945800-49950600	Strong transcription	Small Intestine	intestine
38	chr3:49945800-49950800	Strong transcription	Brain Cingulate Gyrus	brain
39	chr3:49945800-49950800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr3:49945800-49950800	Strong transcription	Spleen	Spleen
41	chr3:49946000-49949800	Strong transcription	Esophagus	oesophagus
42	chr3:49946000-49950000	Strong transcription	Adipose Nuclei	Adipose
43	chr3:49946000-49950400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr3:49946000-49950600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr3:49946000-49950600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:49946000-49950800	Strong transcription	Placenta	Placenta
47	chr3:49946000-49951000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr3:49946000-49951400	Strong transcription	Lung	lung
49	chr3:49946200-49949800	Strong transcription	Brain Germinal Matrix	brain
50	chr3:49946200-49950000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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