Variant report

Variant	rs11909481
Chromosome Location	chr21:17193711-17193712
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:17193392-17193925	K562	blood:	n/a	n/a
2	KAP1	chr21:17193474-17193846	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17105250..17107735-chr21:17192810..17196080,3	K562	blood:
2	chr21:17188442..17191179-chr21:17191582..17194063,2	MCF-7	breast:

Variant related genes	Relation type
USP25	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11909953	1.00[EUR][1000 genomes]
rs2026853	1.00[MEX][hapmap]
rs2823499	1.00[MEX][hapmap]
rs7277807	1.00[MEX][hapmap]
rs7278428	1.00[MEX][hapmap]
rs7278699	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73346759	0.83[AMR][1000 genomes]
rs73359303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8132755	1.00[EUR][1000 genomes]
rs9981282	1.00[TSI][hapmap]

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	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
3	esv3352298	chr21:17193652-17194025	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17155200-17197600	Weak transcription	Fetal Heart	heart
2	chr21:17155200-17199200	Weak transcription	Right Ventricle	heart
3	chr21:17155200-17203800	Weak transcription	Colon Smooth Muscle	Colon
4	chr21:17155200-17209800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
6	chr21:17169000-17194200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr21:17176000-17198200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr21:17177200-17208800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr21:17178400-17248200	Weak transcription	Esophagus	oesophagus
10	chr21:17178400-17252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:17178800-17211400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr21:17180800-17199200	Weak transcription	HSMMtube	muscle
13	chr21:17182400-17227800	Weak transcription	Psoas Muscle	Psoas
14	chr21:17184000-17203800	Weak transcription	Brain Hippocampus Middle	brain
15	chr21:17184000-17209800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr21:17185800-17194200	Weak transcription	Hela-S3	cervix
17	chr21:17186200-17204200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr21:17187000-17194000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr21:17187400-17208800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr21:17187800-17203600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr21:17188000-17197000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr21:17188000-17197600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr21:17188000-17199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:17188000-17199200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr21:17188000-17203800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:17188000-17208800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr21:17188000-17214000	Weak transcription	Gastric	stomach
28	chr21:17188000-17229400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:17188000-17240200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr21:17188200-17195400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr21:17188200-17203800	Weak transcription	Fetal Lung	lung
32	chr21:17188200-17213400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:17188200-17246800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr21:17188400-17198400	Weak transcription	A549	lung
35	chr21:17188400-17206600	Weak transcription	Stomach Mucosa	stomach
36	chr21:17188400-17247200	Weak transcription	Ovary	ovary
37	chr21:17188400-17253200	Weak transcription	Fetal Brain Female	brain
38	chr21:17188600-17194400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr21:17188600-17199200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr21:17188600-17210000	Weak transcription	Aorta	Aorta
41	chr21:17188600-17210400	Weak transcription	Fetal Intestine Small	intestine
42	chr21:17188600-17213400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr21:17188800-17194200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr21:17188800-17206400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr21:17188800-17247000	Weak transcription	Brain Germinal Matrix	brain
46	chr21:17188800-17252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr21:17189000-17194200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr21:17189000-17202400	Weak transcription	HepG2	liver
49	chr21:17189000-17203000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr21:17189200-17195200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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