Variant report

Variant	rs9976927
Chromosome Location	chr21:40366197-40366198
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	chr21:40178699..40181140-chr21:40363859..40366639,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2836806	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2836807	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2836808	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28673525	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58301407	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60329156	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60789326	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73364803	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9976408	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9976856	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9978603	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9985005	0.98[EUR][1000 genomes];0.83[ASN][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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40352400-40370000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr21:40356000-40369400	Enhancers	Left Ventricle	heart
3	chr21:40357400-40376400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr21:40359800-40368400	Enhancers	Fetal Heart	heart
5	chr21:40360000-40369200	Enhancers	Fetal Lung	lung
6	chr21:40360000-40370000	Enhancers	Primary hematopoietic stem cells	blood
7	chr21:40360400-40368600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr21:40360800-40369600	Enhancers	Fetal Thymus	thymus
9	chr21:40360800-40376600	Weak transcription	Gastric	stomach
10	chr21:40362000-40366400	Enhancers	Adipose Nuclei	Adipose
11	chr21:40362000-40368600	Enhancers	Fetal Stomach	stomach
12	chr21:40362000-40369600	Enhancers	Fetal Muscle Leg	muscle
13	chr21:40362200-40366200	Enhancers	Colon Smooth Muscle	Colon
14	chr21:40362200-40367200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:40362200-40369200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr21:40362400-40366600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr21:40362600-40368000	Enhancers	HepG2	liver
18	chr21:40362600-40376800	Weak transcription	Aorta	Aorta
19	chr21:40362800-40367000	Enhancers	Stomach Smooth Muscle	stomach
20	chr21:40362800-40367200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr21:40362800-40367600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr21:40362800-40367600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr21:40363600-40367000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr21:40363600-40367000	Enhancers	Right Atrium	heart
25	chr21:40363600-40367200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr21:40363600-40375800	Weak transcription	Colonic Mucosa	Colon
27	chr21:40363800-40366800	Enhancers	HMEC	breast
28	chr21:40363800-40367600	Weak transcription	Dnd41	blood
29	chr21:40364000-40367000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:40364200-40366800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr21:40364200-40366800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr21:40364200-40366800	Enhancers	Fetal Kidney	kidney
33	chr21:40364200-40367800	Weak transcription	Thymus	Thymus
34	chr21:40364400-40366200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr21:40364400-40366200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:40364400-40366200	Enhancers	NH-A	brain
37	chr21:40364400-40366400	Enhancers	Small Intestine	intestine
38	chr21:40364400-40366600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr21:40364400-40366800	Enhancers	NHDF-Ad	bronchial
40	chr21:40364400-40367600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr21:40364600-40366400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr21:40364600-40366600	Enhancers	NHLF	lung
43	chr21:40364600-40366800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr21:40364800-40366200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr21:40364800-40366200	Enhancers	Duodenum Mucosa	Duodenum
46	chr21:40364800-40366200	Enhancers	HSMM	muscle
47	chr21:40364800-40366200	Enhancers	Osteobl	bone
48	chr21:40364800-40366400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr21:40364800-40367400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr21:40365200-40367800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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