Variant report

Variant	rs922947
Chromosome Location	chr3:69417221-69417222
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:69416233..69418620-chr3:69433830..69435946,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114541	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12107294	1.00[EUR][1000 genomes]
rs13323929	1.00[EUR][1000 genomes]
rs1384932	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17005573	1.00[EUR][1000 genomes]
rs17005591	1.00[EUR][1000 genomes]
rs59851645	1.00[EUR][1000 genomes]
rs6549210	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
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	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7633864	1.00[EUR][1000 genomes]
rs7639924	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs964552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9830380	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	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
3	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69402200-69419000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:69410200-69417400	Weak transcription	Fetal Lung	lung
3	chr3:69413600-69417400	Weak transcription	Brain Anterior Caudate	brain
4	chr3:69413600-69417400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:69413600-69417400	Weak transcription	Brain Substantia Nigra	brain
6	chr3:69413600-69417600	Weak transcription	Esophagus	oesophagus
7	chr3:69413600-69418000	Weak transcription	HSMMtube	muscle
8	chr3:69413600-69419000	Weak transcription	NHDF-Ad	bronchial
9	chr3:69413800-69417400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr3:69413800-69417600	Weak transcription	Placenta	Placenta
11	chr3:69413800-69417600	Weak transcription	Right Atrium	heart
12	chr3:69413800-69419000	Weak transcription	Brain Angular Gyrus	brain
13	chr3:69413800-69419400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:69414000-69417400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr3:69414000-69417400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr3:69414000-69418400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:69414000-69419000	Weak transcription	Osteobl	bone
18	chr3:69414200-69418000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr3:69414600-69417400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:69415000-69417400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:69415000-69417400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:69415000-69418800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr3:69415400-69417400	Weak transcription	Lung	lung
24	chr3:69416000-69419000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:69416000-69419200	Weak transcription	Fetal Brain Male	brain
26	chr3:69416600-69417400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:69416600-69418400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr3:69416600-69420400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:69416800-69417400	Enhancers	Primary T cells from cord blood	blood
30	chr3:69416800-69417400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:69416800-69419800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:69416800-69420400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr3:69416800-69420600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:69417000-69417600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr3:69417000-69417800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr3:69417000-69419000	Enhancers	HUVEC	blood vessel
37	chr3:69417000-69419200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr3:69417000-69419400	Enhancers	Primary B cells from cord blood	blood
39	chr3:69417000-69420600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr3:69417000-69420600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr3:69417200-69417400	Enhancers	Fetal Kidney	kidney
42	chr3:69417200-69417600	Enhancers	Thymus	Thymus
43	chr3:69417200-69417800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr3:69417200-69417800	Enhancers	Aorta	Aorta
45	chr3:69417200-69417800	Enhancers	Spleen	Spleen
46	chr3:69417200-69418000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr3:69417200-69418000	Flanking Active TSS	GM12878-XiMat	blood
48	chr3:69417200-69418200	Enhancers	Primary T cells fromperipheralblood	blood
49	chr3:69417200-69418200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:69417200-69418400	Enhancers	Primary B cells from peripheral blood	blood

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