Variant report

Variant	rs16830032
Chromosome Location	chr3:119314427-119314428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11915800	1.00[EUR][1000 genomes]
rs11918611	1.00[EUR][1000 genomes]
rs11919422	1.00[EUR][1000 genomes]
rs11927159	1.00[EUR][1000 genomes]
rs11927863	1.00[EUR][1000 genomes]
rs12106815	1.00[EUR][1000 genomes]
rs12106869	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13317715	1.00[EUR][1000 genomes]
rs58318736	1.00[EUR][1000 genomes]
rs61575899	1.00[EUR][1000 genomes]
rs6767853	1.00[EUR][1000 genomes]
rs72968486	1.00[EUR][1000 genomes]
rs73854857	1.00[EUR][1000 genomes]
rs73857025	1.00[EUR][1000 genomes]
rs7611869	1.00[EUR][1000 genomes]
rs9821005	1.00[EUR][1000 genomes]
rs9860332	1.00[EUR][1000 genomes]
rs9861284	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs9861344	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs9866191	1.00[EUR][1000 genomes]
rs9876397	1.00[EUR][1000 genomes]
rs9876408	1.00[EUR][1000 genomes]
rs9876504	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs9881550	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv3963	chr3:119301064-119345904	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119299200-119314600	Weak transcription	Ovary	ovary
2	chr3:119299200-119315000	Weak transcription	Gastric	stomach
3	chr3:119299800-119314600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:119299800-119314600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr3:119299800-119318000	Weak transcription	Fetal Heart	heart
6	chr3:119305800-119314600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:119306000-119316800	Weak transcription	Pancreas	Pancrea
8	chr3:119307600-119316400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:119308200-119314800	Weak transcription	Aorta	Aorta
10	chr3:119308600-119314600	Weak transcription	Osteobl	bone
11	chr3:119309800-119314800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr3:119310000-119314600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:119310600-119319800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:119311000-119315000	Weak transcription	Spleen	Spleen
15	chr3:119311000-119317600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:119311200-119316800	Weak transcription	Fetal Lung	lung
17	chr3:119312800-119314600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:119313000-119314800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:119313400-119314800	Weak transcription	Placenta	Placenta
20	chr3:119314200-119314600	Active TSS	Brain Anterior Caudate	brain
21	chr3:119314200-119314600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:119314200-119314600	Enhancers	Brain Substantia Nigra	brain
23	chr3:119314200-119314600	Enhancers	Fetal Muscle Leg	muscle
24	chr3:119314200-119314600	Enhancers	Left Ventricle	heart
25	chr3:119314200-119314600	Enhancers	Psoas Muscle	Psoas
26	chr3:119314200-119314600	Enhancers	Right Atrium	heart
27	chr3:119314200-119314600	Enhancers	GM12878-XiMat	blood
28	chr3:119314200-119315400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr3:119314200-119315600	Enhancers	Right Ventricle	heart
30	chr3:119314200-119315600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr3:119314200-119317200	Enhancers	Lung	lung
32	chr3:119314400-119314600	Enhancers	Adipose Nuclei	Adipose
33	chr3:119314400-119314600	Enhancers	Liver	Liver
34	chr3:119314400-119314600	Enhancers	Brain Angular Gyrus	brain
35	chr3:119314400-119314600	Enhancers	Colon Smooth Muscle	Colon
36	chr3:119314400-119314600	Bivalent Enhancer	HepG2	liver
37	chr3:119314400-119314600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr3:119314400-119314800	Flanking Active TSS	Brain Cingulate Gyrus	brain
39	chr3:119314400-119314800	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr3:119314400-119315000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
41	chr3:119314400-119315000	Flanking Active TSS	HSMM	muscle
42	chr3:119314400-119315200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr3:119314400-119315200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:119314400-119315200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr3:119314400-119315200	Flanking Active TSS	HSMMtube	muscle
46	chr3:119314400-119315400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:119314400-119315600	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr3:119314400-119318600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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