Variant report

Variant	rs16830894
Chromosome Location	chr3:119933461-119933462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10804551	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1118199	0.82[ASN][1000 genomes]
rs12491165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12635156	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12638442	0.82[ASN][1000 genomes]
rs1388754	0.82[ASN][1000 genomes]
rs1602613	0.82[ASN][1000 genomes]
rs2319544	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28735732	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6771865	0.83[ASN][1000 genomes]
rs7633690	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9833127	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9858897	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9878040	0.98[ASN][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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119931200-119934400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:119932400-119934000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:119932400-119934200	Enhancers	Ovary	ovary
4	chr3:119932800-119933600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr3:119932800-119933600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr3:119932800-119933600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:119932800-119933600	Enhancers	NHDF-Ad	bronchial
8	chr3:119932800-119933600	Enhancers	NHEK	skin
9	chr3:119932800-119933800	Enhancers	Adipose Nuclei	Adipose
10	chr3:119932800-119934000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:119932800-119934000	Enhancers	Hela-S3	cervix
12	chr3:119932800-119934000	Enhancers	HSMMtube	muscle
13	chr3:119932800-119934200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr3:119932800-119934200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr3:119932800-119934400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:119932800-119934400	Enhancers	HSMM	muscle
17	chr3:119932800-119934800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:119933000-119933600	Enhancers	Brain Germinal Matrix	brain
19	chr3:119933000-119933800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:119933000-119933800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:119933000-119933800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:119933000-119933800	Enhancers	Fetal Stomach	stomach
23	chr3:119933000-119934200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:119933000-119934800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:119933000-119934800	Enhancers	Fetal Muscle Leg	muscle
26	chr3:119933000-119934800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr3:119933000-119943200	Weak transcription	Psoas Muscle	Psoas
28	chr3:119933200-119933600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:119933200-119933600	Enhancers	Colon Smooth Muscle	Colon
30	chr3:119933200-119934200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr3:119933200-119934600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:119933400-119934000	Enhancers	Fetal Kidney	kidney

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