Variant report

Variant	rs73854929
Chromosome Location	chr3:110911392-110911393
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12185974	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1370	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1801650	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1824709	0.89[EUR][1000 genomes]
rs56324569	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56724510	0.89[EUR][1000 genomes]
rs58112872	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61190717	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6437943	0.83[EUR][1000 genomes]
rs73852384	0.89[EUR][1000 genomes]
rs73852394	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852397	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852398	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852399	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73852401	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73852402	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854903	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854905	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854910	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73854911	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854912	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854913	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854914	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854915	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854916	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854919	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854920	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73854921	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854922	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854923	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73854926	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854927	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73854928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7615927	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7616280	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7622397	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7642664	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9844779	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv829675	chr3:110885605-111101858	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv877339	chr3:110889974-111070554	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv963553	chr3:110910542-110913573	Weak transcription Strong transcription Enhancers	CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110835600-110929600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:110847000-110911400	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:110853000-110919600	Weak transcription	Fetal Brain Male	brain
4	chr3:110869400-110929000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:110871000-110914200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:110872200-110913800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:110872600-110918800	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:110874200-110912000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:110874400-110911800	Weak transcription	Left Ventricle	heart
10	chr3:110874800-110913000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:110881000-110928000	Weak transcription	Osteobl	bone
12	chr3:110890200-110913200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr3:110890800-110919800	Weak transcription	Brain Hippocampus Middle	brain
14	chr3:110892000-110915800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:110892400-110912800	Weak transcription	HepG2	liver
16	chr3:110892800-110911600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:110893000-110911400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:110893000-110916200	Weak transcription	A549	lung
19	chr3:110893200-110912200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr3:110893200-110912200	Weak transcription	NHDF-Ad	bronchial
21	chr3:110893400-110911400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:110894000-110922800	Weak transcription	Gastric	stomach
23	chr3:110894000-110924000	Weak transcription	Fetal Stomach	stomach
24	chr3:110894000-110934400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:110894200-110911400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:110894200-110913800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:110894200-110914200	Weak transcription	Aorta	Aorta
28	chr3:110894200-110924800	Weak transcription	Fetal Intestine Small	intestine
29	chr3:110894200-110925600	Weak transcription	NHLF	lung
30	chr3:110894200-110929600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:110898400-110911400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:110899200-110935200	Weak transcription	Lung	lung
33	chr3:110901400-110918000	Weak transcription	Small Intestine	intestine
34	chr3:110903000-110918200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:110903400-110916400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr3:110903400-110929200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr3:110904200-110912400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:110904200-110912600	Weak transcription	Fetal Kidney	kidney
39	chr3:110904600-110911600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:110907000-110911400	Weak transcription	Fetal Heart	heart
41	chr3:110907400-110914000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr3:110907600-110917200	Strong transcription	Fetal Lung	lung
43	chr3:110907800-110915400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:110908000-110917000	Strong transcription	Placenta	Placenta
45	chr3:110908600-110916000	Strong transcription	Dnd41	blood
46	chr3:110908800-110912200	Weak transcription	HSMMtube	muscle
47	chr3:110908800-110915800	Weak transcription	Brain Angular Gyrus	brain
48	chr3:110909200-110915400	Weak transcription	HUVEC	blood vessel
49	chr3:110909800-110915400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:110909800-110918600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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