Variant report

Variant	rs7279960
Chromosome Location	chr21:40162622-40162623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40158174..40165115-chr21:40166769..40170231,7	K562	blood:
2	chr21:40161170..40164119-chr21:40553969..40556630,2	K562	blood:
3	chr21:40156267..40158669-chr21:40161958..40164607,2	K562	blood:
4	chr21:40161930..40164831-chr21:40176426..40179511,3	K562	blood:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000183527	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16996828	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55742027	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57766236	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57775548	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58581377	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59615160	0.83[AMR][1000 genomes]
rs59774925	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60197819	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7278110	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7280243	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7283841	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73442765	1.00[AMR][1000 genomes]
rs73442767	0.85[AMR][1000 genomes]
rs73442769	1.00[AMR][1000 genomes]
rs73442773	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73442777	1.00[AMR][1000 genomes]
rs73442778	1.00[AMR][1000 genomes]
rs8132431	0.97[AFR][1000 genomes];1.00[AMR][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	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40156200-40163600	Enhancers	Fetal Intestine Small	intestine
2	chr21:40156400-40163200	Enhancers	Fetal Intestine Large	intestine
3	chr21:40159800-40162800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr21:40160200-40167400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr21:40160400-40163200	Enhancers	Duodenum Mucosa	Duodenum
6	chr21:40160600-40165800	Weak transcription	Esophagus	oesophagus
7	chr21:40160600-40169200	Weak transcription	Placenta	Placenta
8	chr21:40160800-40165800	Weak transcription	A549	lung
9	chr21:40160800-40165800	Weak transcription	Hela-S3	cervix
10	chr21:40160800-40167000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:40161200-40162800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr21:40161400-40165800	Weak transcription	Pancreas	Pancrea
13	chr21:40161600-40163000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr21:40161800-40162800	Enhancers	Fetal Lung	lung
15	chr21:40162000-40162800	Enhancers	Primary hematopoietic stem cells	blood
16	chr21:40162000-40164600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr21:40162200-40162800	Enhancers	Small Intestine	intestine
18	chr21:40162200-40163400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr21:40162200-40163400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr21:40162400-40165600	Weak transcription	HepG2	liver
21	chr21:40162400-40167400	Weak transcription	K562	blood
22	chr21:40162600-40163000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:40162600-40163000	Enhancers	Colonic Mucosa	Colon
24	chr21:40162600-40163000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr21:40162600-40164600	Weak transcription	Stomach Mucosa	stomach

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