Variant report

Variant	rs7279424
Chromosome Location	chr21:40541386-40541387
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40539321..40542215-chr21:40543266..40546539,3	MCF-7	breast:
2	chr21:40481745..40484167-chr21:40539282..40541996,2	K562	blood:
3	chr21:40539973..40543967-chr21:40547698..40550109,4	MCF-7	breast:
4	chr21:40534864..40537337-chr21:40540303..40542416,2	K562	blood:

Variant related genes	Relation type
ENSG00000235701	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11909263	0.91[AFR][1000 genomes]
rs11909837	0.91[AFR][1000 genomes]
rs11911245	0.91[AFR][1000 genomes]
rs11911944	0.91[AFR][1000 genomes]
rs7277870	0.91[AFR][1000 genomes]
rs7278464	0.83[AFR][1000 genomes]
rs7279749	0.96[AFR][1000 genomes]
rs8130185	0.96[AFR][1000 genomes]
rs8132308	0.83[AFR][1000 genomes]
rs8132471	0.87[AFR][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	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40533600-40545400	Weak transcription	HUVEC	blood vessel
2	chr21:40537200-40542800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr21:40537200-40543000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr21:40537200-40543000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr21:40537200-40543000	Weak transcription	Lung	lung
6	chr21:40537200-40543000	Weak transcription	Pancreas	Pancrea
7	chr21:40537400-40542400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:40537400-40543000	Weak transcription	Aorta	Aorta
9	chr21:40537400-40543000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr21:40537400-40543200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr21:40537600-40553800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr21:40537800-40543000	Weak transcription	HepG2	liver
13	chr21:40538000-40543000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr21:40538200-40541400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr21:40538200-40543200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr21:40538400-40541400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr21:40538400-40542800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr21:40538400-40543000	Weak transcription	Fetal Intestine Small	intestine
19	chr21:40538400-40544800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr21:40538600-40541400	Weak transcription	Fetal Stomach	stomach
21	chr21:40538600-40543000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:40538600-40543000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr21:40538800-40541400	Weak transcription	A549	lung
24	chr21:40538800-40542800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr21:40538800-40542800	Weak transcription	K562	blood
26	chr21:40538800-40543000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr21:40538800-40545200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr21:40538800-40550400	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr21:40539000-40542600	Weak transcription	Fetal Intestine Large	intestine
30	chr21:40539000-40543000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr21:40539000-40543000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr21:40539000-40550800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr21:40539200-40542000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr21:40539200-40542800	Weak transcription	Fetal Kidney	kidney
35	chr21:40539200-40543000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr21:40539200-40543400	Weak transcription	Brain Anterior Caudate	brain
37	chr21:40539400-40543000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr21:40539400-40544800	Weak transcription	NHDF-Ad	bronchial
39	chr21:40539400-40545200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr21:40539600-40554000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr21:40539800-40554000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr21:40540000-40543000	Weak transcription	Ovary	ovary
43	chr21:40540000-40543200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr21:40540200-40554200	Weak transcription	Psoas Muscle	Psoas
45	chr21:40540600-40541400	Enhancers	Liver	Liver
46	chr21:40540800-40541400	Weak transcription	Esophagus	oesophagus
47	chr21:40540800-40543000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr21:40540800-40543000	Weak transcription	Brain Hippocampus Middle	brain
49	chr21:40540800-40543000	Weak transcription	Fetal Thymus	thymus
50	chr21:40540800-40543000	Weak transcription	Stomach Smooth Muscle	stomach

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