Variant report

Variant	rs9830380
Chromosome Location	chr3:69413141-69413142
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12107294	1.00[EUR][1000 genomes]
rs13323929	1.00[EUR][1000 genomes]
rs1384932	1.00[EUR][1000 genomes]
rs17005573	1.00[EUR][1000 genomes]
rs17005591	1.00[EUR][1000 genomes]
rs59851645	1.00[EUR][1000 genomes]
rs6549210	1.00[EUR][1000 genomes]
rs6549211	1.00[ASW][hapmap]
rs6549212	1.00[EUR][1000 genomes]
rs72934847	1.00[EUR][1000 genomes]
rs72934854	1.00[EUR][1000 genomes]
rs72934855	1.00[EUR][1000 genomes]
rs72934857	1.00[EUR][1000 genomes]
rs72940786	1.00[EUR][1000 genomes]
rs7633864	1.00[EUR][1000 genomes]
rs7639924	1.00[EUR][1000 genomes]
rs922947	1.00[EUR][1000 genomes]
rs964552	1.00[EUR][1000 genomes]
rs9849228	1.00[EUR][1000 genomes]
rs9861534	1.00[EUR][1000 genomes]
rs9868554	1.00[EUR][1000 genomes]
rs9878971	1.00[EUR][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	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1800315	chr3:69374729-69414587	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv520818	chr3:69401248-69421495	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69402200-69419000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:69403000-69414800	Weak transcription	Lung	lung
3	chr3:69406800-69413400	Weak transcription	Brain Angular Gyrus	brain
4	chr3:69407400-69413200	Weak transcription	Brain Hippocampus Middle	brain
5	chr3:69409800-69413400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:69410000-69413200	Weak transcription	HUVEC	blood vessel
7	chr3:69410200-69417400	Weak transcription	Fetal Lung	lung
8	chr3:69412200-69415400	Enhancers	Dnd41	blood
9	chr3:69412800-69413200	Genic enhancers	NHEK	skin
10	chr3:69412800-69413400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:69412800-69413600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr3:69412800-69413600	Enhancers	Esophagus	oesophagus
13	chr3:69412800-69413600	Enhancers	Fetal Thymus	thymus
14	chr3:69412800-69413800	Genic enhancers	HSMM	muscle
15	chr3:69412800-69414000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr3:69412800-69414200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:69412800-69414600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:69412800-69415000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:69412800-69415200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:69413000-69413600	Enhancers	Aorta	Aorta
21	chr3:69413000-69413600	Enhancers	Brain Substantia Nigra	brain
22	chr3:69413000-69413600	Enhancers	Hela-S3	cervix
23	chr3:69413000-69413600	Enhancers	HSMMtube	muscle
24	chr3:69413000-69413800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr3:69413000-69413800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr3:69413000-69414000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr3:69413000-69414000	Enhancers	Thymus	Thymus
28	chr3:69413000-69414400	Enhancers	Primary hematopoietic stem cells	blood
29	chr3:69413000-69414600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:69413000-69414600	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr3:69413000-69414800	Enhancers	GM12878-XiMat	blood
32	chr3:69413000-69414800	Enhancers	HMEC	breast
33	chr3:69413000-69415000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:69413000-69415000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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