Variant report

Variant	rs9983067
Chromosome Location	chr21:39809891-39809892
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:39809173..39812055-chr21:39821863..39823465,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17230512	0.88[EUR][1000 genomes]
rs17815661	0.88[EUR][1000 genomes]
rs28811397	0.88[EUR][1000 genomes]
rs725233	0.88[EUR][1000 genomes]
rs8133155	0.88[EUR][1000 genomes]
rs9977445	0.88[EUR][1000 genomes]
rs9983703	0.91[EUR][1000 genomes]
rs9984089	0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834098	chr21:39691898-39845254	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39795400-39813000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr21:39796600-39815600	Weak transcription	Gastric	stomach
3	chr21:39797000-39810800	Weak transcription	Fetal Thymus	thymus
4	chr21:39801200-39811400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:39806200-39810800	Weak transcription	Primary B cells from cord blood	blood
6	chr21:39806800-39810600	Weak transcription	Spleen	Spleen
7	chr21:39807000-39810400	Weak transcription	Fetal Lung	lung
8	chr21:39807000-39811400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr21:39807000-39817800	Genic enhancers	HUVEC	blood vessel
10	chr21:39807400-39810200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr21:39807400-39814200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:39807400-39814400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:39807600-39810600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:39807600-39812200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:39807800-39810000	Weak transcription	Aorta	Aorta
16	chr21:39807800-39810400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr21:39807800-39810400	Weak transcription	Ovary	ovary
18	chr21:39807800-39810400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr21:39807800-39810800	Weak transcription	A549	lung
20	chr21:39807800-39811400	Weak transcription	NHDF-Ad	bronchial
21	chr21:39807800-39812000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:39807800-39812800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:39807800-39813200	Enhancers	HSMMtube	muscle
24	chr21:39807800-39813800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr21:39808000-39810000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr21:39808000-39810000	Weak transcription	Osteobl	bone
27	chr21:39808000-39810800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr21:39808000-39810800	Weak transcription	HSMM	muscle
29	chr21:39808000-39811200	Weak transcription	Fetal Stomach	stomach
30	chr21:39808000-39812200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr21:39808200-39811000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr21:39808200-39813000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr21:39808400-39810000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr21:39808400-39813800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr21:39808600-39810000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr21:39808600-39810000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr21:39808600-39811000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:39808600-39811800	Weak transcription	HMEC	breast
39	chr21:39808800-39810400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr21:39809200-39810800	Enhancers	Lung	lung
41	chr21:39809200-39815600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr21:39809400-39810400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr21:39809400-39811200	Enhancers	Right Ventricle	heart
44	chr21:39809400-39813400	Enhancers	Hela-S3	cervix
45	chr21:39809600-39813200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr21:39809600-39813400	Enhancers	NH-A	brain
47	chr21:39809800-39810200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr21:39809800-39810200	Flanking Active TSS	Fetal Heart	heart
49	chr21:39809800-39810200	Weak transcription	Left Ventricle	heart
50	chr21:39809800-39810400	Weak transcription	Right Atrium	heart

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