Variant report

Variant	rs73834127
Chromosome Location	chr3:49954034-49954035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49937512..49940184-chr3:49951912..49954370,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:34)

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]
rs73834125	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835208	1.00[AMR][1000 genomes]
rs73835216	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49943800-49966000	Weak transcription	Psoas Muscle	Psoas
2	chr3:49944200-49956200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:49944200-49962000	Weak transcription	HepG2	liver
4	chr3:49944200-49962000	Weak transcription	HSMM	muscle
5	chr3:49944200-49962000	Weak transcription	NH-A	brain
6	chr3:49944200-49966000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:49944400-49955000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr3:49944400-49966000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr3:49944400-49966000	Weak transcription	HUVEC	blood vessel
10	chr3:49944600-49961800	Weak transcription	Hela-S3	cervix
11	chr3:49946800-49965800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:49948000-49961600	Weak transcription	HMEC	breast
13	chr3:49948000-49966800	Weak transcription	Fetal Heart	heart
14	chr3:49948400-49954200	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr3:49948600-49965400	Weak transcription	Fetal Lung	lung
16	chr3:49948800-49961800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr3:49948800-49966000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr3:49949000-49966200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:49949200-49954400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:49949400-49962200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:49949400-49965600	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:49949600-49954200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:49949800-49965400	Weak transcription	Gastric	stomach
24	chr3:49949800-49965800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:49949800-49966800	Weak transcription	Aorta	Aorta
26	chr3:49950000-49954400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:49950000-49965800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:49950200-49962200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:49950200-49966000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:49950400-49965400	Weak transcription	Right Ventricle	heart
31	chr3:49950400-49965800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:49950600-49956800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr3:49950600-49957200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr3:49950600-49962000	Weak transcription	HSMMtube	muscle
35	chr3:49950600-49965400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:49950600-49965400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:49950600-49965400	Weak transcription	Brain Angular Gyrus	brain
38	chr3:49950600-49965600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:49950600-49965600	Weak transcription	Fetal Thymus	thymus
40	chr3:49950600-49965800	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:49950600-49966000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:49950600-49966000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:49950600-49966000	Weak transcription	Brain Germinal Matrix	brain
44	chr3:49950600-49966000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr3:49950600-49966200	Weak transcription	Ovary	ovary
46	chr3:49950600-49966800	Weak transcription	Small Intestine	intestine
47	chr3:49950800-49954200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:49950800-49954400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:49950800-49955400	Weak transcription	Primary B cells from cord blood	blood
50	chr3:49950800-49955400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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