Variant report

Variant	rs2200247
Chromosome Location	chr3:69430007-69430008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13091630	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1843045	0.87[CEU][hapmap]
rs2872805	0.83[CEU][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4855310	0.88[ASW][hapmap];0.83[CEU][hapmap];0.90[MEX][hapmap];0.84[MKK][hapmap];0.88[TSI][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4855399	0.83[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	esv2760780	chr3:69413876-69513947	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69420600-69433600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr3:69421000-69433600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:69421400-69430400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:69421400-69432600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:69421400-69433400	Weak transcription	Aorta	Aorta
6	chr3:69421400-69433800	Weak transcription	Lung	lung
7	chr3:69421400-69433800	Weak transcription	Right Atrium	heart
8	chr3:69421600-69433600	Weak transcription	HMEC	breast
9	chr3:69426000-69431200	Enhancers	Brain Angular Gyrus	brain
10	chr3:69426200-69432800	Enhancers	Dnd41	blood
11	chr3:69427800-69433400	Weak transcription	Fetal Lung	lung
12	chr3:69427800-69433400	Weak transcription	HSMM	muscle
13	chr3:69428600-69431400	Enhancers	Thymus	Thymus
14	chr3:69428800-69431600	Enhancers	Brain Cingulate Gyrus	brain
15	chr3:69428800-69432200	Enhancers	Brain Hippocampus Middle	brain
16	chr3:69429000-69430800	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr3:69429000-69431200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:69429000-69431200	Enhancers	NHEK	skin
19	chr3:69429000-69431600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:69429000-69432000	Enhancers	Brain Substantia Nigra	brain
21	chr3:69429400-69433600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:69429400-69433800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:69429400-69434200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr3:69429600-69430200	Enhancers	Brain Anterior Caudate	brain
25	chr3:69429600-69433400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:69429600-69433600	Weak transcription	HSMMtube	muscle
27	chr3:69429800-69430200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:69430000-69432800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr3:69430000-69432800	Weak transcription	Fetal Thymus	thymus
30	chr3:69430000-69434200	Weak transcription	Spleen	Spleen

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