Variant report

Variant	rs56292282
Chromosome Location	chr21:17205013-17205014
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:17203327..17205670-chr21:17262787..17265674,2	K562	blood:
2	chr21:17204247..17206448-chr21:17213044..17215349,2	K562	blood:
3	chr21:17204554..17207689-chr21:17213044..17215185,3	K562	blood:
4	chr21:17204445..17206972-chr21:17210120..17212633,3	K562	blood:

Variant related genes	Relation type
ENSG00000155313	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12106392	1.00[EUR][1000 genomes]
rs12106393	1.00[EUR][1000 genomes]
rs56159310	1.00[AMR][1000 genomes]
rs57732471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59764941	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73355468	1.00[EUR][1000 genomes]
rs73892511	0.90[AFR][1000 genomes]
rs73892523	1.00[AMR][1000 genomes]
rs73892528	0.90[AFR][1000 genomes]
rs73892531	0.90[AFR][1000 genomes]
rs73892534	1.00[AMR][1000 genomes]
rs73892535	1.00[AMR][1000 genomes]
rs73892537	1.00[AMR][1000 genomes]
rs73892541	1.00[EUR][1000 genomes]
rs73892542	1.00[EUR][1000 genomes]
rs73892545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73892547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73892551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73892552	1.00[EUR][1000 genomes]
rs73892554	1.00[EUR][1000 genomes]
rs73892557	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73892558	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8134308	1.00[EUR][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	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
2	nsv1063035	chr21:17154222-17224344	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17155200-17209800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
3	chr21:17177200-17208800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr21:17178400-17248200	Weak transcription	Esophagus	oesophagus
5	chr21:17178400-17252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:17178800-17211400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr21:17182400-17227800	Weak transcription	Psoas Muscle	Psoas
8	chr21:17184000-17209800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr21:17187400-17208800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr21:17188000-17208800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr21:17188000-17214000	Weak transcription	Gastric	stomach
12	chr21:17188000-17229400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:17188000-17240200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr21:17188200-17213400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr21:17188200-17246800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr21:17188400-17206600	Weak transcription	Stomach Mucosa	stomach
17	chr21:17188400-17247200	Weak transcription	Ovary	ovary
18	chr21:17188400-17253200	Weak transcription	Fetal Brain Female	brain
19	chr21:17188600-17210000	Weak transcription	Aorta	Aorta
20	chr21:17188600-17210400	Weak transcription	Fetal Intestine Small	intestine
21	chr21:17188600-17213400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:17188800-17206400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr21:17188800-17247000	Weak transcription	Brain Germinal Matrix	brain
24	chr21:17188800-17252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr21:17190200-17245400	Weak transcription	Lung	lung
26	chr21:17190200-17247200	Weak transcription	Pancreas	Pancrea
27	chr21:17190400-17247200	Weak transcription	Spleen	Spleen
28	chr21:17190400-17247400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr21:17191000-17227800	Weak transcription	Colonic Mucosa	Colon
30	chr21:17191200-17207000	Weak transcription	Left Ventricle	heart
31	chr21:17191800-17211600	Weak transcription	NH-A	brain
32	chr21:17191800-17212800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr21:17194000-17209600	Weak transcription	Osteobl	bone
34	chr21:17194200-17228000	Weak transcription	Small Intestine	intestine
35	chr21:17194800-17218000	Weak transcription	Hela-S3	cervix
36	chr21:17197000-17206200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr21:17197000-17208000	Strong transcription	Dnd41	blood
38	chr21:17197200-17208000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr21:17197200-17218400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr21:17197800-17208000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr21:17198000-17214200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr21:17198000-17248000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr21:17198400-17208400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr21:17198600-17208800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr21:17198800-17208400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr21:17199000-17205200	Strong transcription	Placenta	Placenta
47	chr21:17199000-17206400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr21:17199000-17207400	Strong transcription	HSMM	muscle
49	chr21:17199200-17205800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr21:17199200-17208800	Strong transcription	Liver	Liver

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