Variant report

Variant	rs28679848
Chromosome Location	chr21:17251556-17251557
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17102312..17103916-chr21:17251064..17252647,2	K562	blood:

Variant related genes	Relation type
ENSG00000155313	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2248859	0.84[ASN][1000 genomes]
rs2252133	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2823502	0.87[EUR][1000 genomes]
rs2823503	0.87[EUR][1000 genomes]
rs2823507	0.84[EUR][1000 genomes]
rs2823509	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823513	0.84[ASN][1000 genomes]
rs2823516	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823518	0.96[ASN][1000 genomes]
rs28469763	0.86[EUR][1000 genomes]
rs409901	0.83[ASN][1000 genomes]
rs412155	0.83[ASN][1000 genomes]
rs412843	0.83[ASN][1000 genomes]
rs444158	0.83[ASN][1000 genomes]
rs7283467	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8127734	0.80[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	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
2	chr21:17178400-17252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr21:17188400-17253200	Weak transcription	Fetal Brain Female	brain
4	chr21:17188800-17252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:17204600-17252800	Weak transcription	Brain Hippocampus Middle	brain
6	chr21:17210400-17252600	Weak transcription	Aorta	Aorta
7	chr21:17215600-17252200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:17221000-17252800	Weak transcription	Thymus	Thymus
9	chr21:17222200-17252600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr21:17223000-17257200	Weak transcription	NHLF	lung
11	chr21:17223600-17264400	Weak transcription	NHEK	skin
12	chr21:17225200-17252800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr21:17228200-17256800	Weak transcription	Small Intestine	intestine
14	chr21:17228400-17252800	Weak transcription	Fetal Heart	heart
15	chr21:17228400-17252800	Weak transcription	Psoas Muscle	Psoas
16	chr21:17233400-17256600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr21:17234800-17252800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr21:17235200-17252800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr21:17235200-17255600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr21:17235800-17252200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr21:17235800-17252800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr21:17236400-17253800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr21:17236600-17254600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr21:17237000-17254400	Strong transcription	Placenta	Placenta
25	chr21:17237600-17252000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:17237800-17252800	Strong transcription	Adipose Nuclei	Adipose
27	chr21:17237800-17252800	Strong transcription	Liver	Liver
28	chr21:17239800-17252800	Weak transcription	Brain Substantia Nigra	brain
29	chr21:17240600-17252800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr21:17242200-17252000	Strong transcription	Dnd41	blood
31	chr21:17244400-17252800	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr21:17244600-17252200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr21:17245200-17252800	Strong transcription	Primary B cells from cord blood	blood
34	chr21:17245400-17252600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr21:17245400-17252800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr21:17245400-17252800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr21:17245400-17252800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr21:17245400-17252800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr21:17245400-17253400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr21:17245400-17254400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr21:17245400-17255400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr21:17245400-17255600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr21:17245400-17270400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr21:17245600-17252800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr21:17245600-17252800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr21:17245600-17252800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr21:17245600-17253400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr21:17245600-17254200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr21:17245600-17255400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr21:17245800-17252600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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