Variant report

Variant	rs16831308
Chromosome Location	chr3:120180163-120180164
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	chr3:120176725..120179691-chr3:120180147..120181932,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16831321	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831400	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831487	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831491	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16831500	1.00[ASN][1000 genomes]
rs16831503	1.00[ASN][1000 genomes]
rs17140276	1.00[ASN][1000 genomes]
rs17140280	1.00[ASN][1000 genomes]
rs6770836	1.00[ASN][1000 genomes]
rs72960832	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7633287	1.00[ASN][1000 genomes]
rs985190	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9881574	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh 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	26 gene(s)	inside rSNPs	diseases
5	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120170400-120190800	Weak transcription	Aorta	Aorta
2	chr3:120171800-120180600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:120177200-120180600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr3:120177600-120180400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:120178200-120180800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:120178200-120180800	Enhancers	NHLF	lung
7	chr3:120178200-120181200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:120178200-120181600	Enhancers	Right Atrium	heart
9	chr3:120178600-120181200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:120178600-120181200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:120178800-120180800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:120178800-120181200	Enhancers	Brain Germinal Matrix	brain
13	chr3:120179000-120180400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:120179000-120180600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr3:120179000-120180800	Enhancers	Fetal Brain Male	brain
16	chr3:120179200-120180600	Enhancers	NH-A	brain
17	chr3:120179200-120180800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr3:120179200-120181000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:120179200-120181400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:120179200-120181800	Enhancers	NHDF-Ad	bronchial
21	chr3:120179400-120180200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:120179400-120180400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:120179600-120180200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:120179600-120180200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr3:120179600-120180200	Enhancers	Rectal Smooth Muscle	rectum
26	chr3:120179800-120180400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:120179800-120180600	Active TSS	Brain Hippocampus Middle	brain
28	chr3:120179800-120180800	Enhancers	Brain Anterior Caudate	brain
29	chr3:120179800-120180800	Weak transcription	Colon Smooth Muscle	Colon
30	chr3:120179800-120182000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:120180000-120180200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:120180000-120180200	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr3:120180000-120180200	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr3:120180000-120180200	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr3:120180000-120180200	Enhancers	Placenta	Placenta
36	chr3:120180000-120180400	Weak transcription	Left Ventricle	heart
37	chr3:120180000-120180600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr3:120180000-120181000	Enhancers	Fetal Brain Female	brain
39	chr3:120180000-120181200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr3:120180000-120182000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr3:120180000-120182000	Enhancers	Fetal Heart	heart
42	chr3:120180000-120188000	Weak transcription	HSMMtube	muscle

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