Variant report

Variant	rs9305754
Chromosome Location	chr21:17213760-17213761
allele	C/G
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	chr21:17212955-17214421	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17208516..17210345-chr21:17212291..17213880,2	K562	blood:
2	chr21:17211111..17214021-chr21:17219492..17221299,2	K562	blood:

Variant related genes	Relation type
USP25	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11909953	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17241402	0.84[CHB][hapmap]
rs17307156	0.84[CHB][hapmap]
rs2183553	0.95[ASN][1000 genomes]
rs2823464	0.81[CHB][hapmap]
rs2823477	0.93[CHB][hapmap]
rs2823479	0.93[CHB][hapmap]
rs2823480	0.93[CHB][hapmap]
rs2823487	0.93[CHB][hapmap];0.82[ASN][1000 genomes]
rs2823488	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs28484960	0.97[ASN][1000 genomes]
rs28553297	0.97[ASN][1000 genomes]
rs55804442	0.85[ASN][1000 genomes]
rs60174740	0.85[ASN][1000 genomes]
rs6517612	0.92[CHB][hapmap]
rs73348818	0.97[ASN][1000 genomes]
rs73892561	0.97[ASN][1000 genomes]
rs8130607	0.84[CHB][hapmap]
rs8132755	0.97[ASN][1000 genomes]
rs9975374	0.94[ASN][1000 genomes]
rs9977019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9980591	0.97[ASN][1000 genomes]
rs9982630	0.97[ASN][1000 genomes]
rs9984651	0.93[ASN][1000 genomes]
rs9985029	0.97[ASN][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:116 , 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	chr21:17178400-17248200	Weak transcription	Esophagus	oesophagus
3	chr21:17178400-17252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:17182400-17227800	Weak transcription	Psoas Muscle	Psoas
5	chr21:17188000-17214000	Weak transcription	Gastric	stomach
6	chr21:17188000-17229400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:17188000-17240200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:17188200-17246800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr21:17188400-17247200	Weak transcription	Ovary	ovary
10	chr21:17188400-17253200	Weak transcription	Fetal Brain Female	brain
11	chr21:17188800-17247000	Weak transcription	Brain Germinal Matrix	brain
12	chr21:17188800-17252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:17190200-17245400	Weak transcription	Lung	lung
14	chr21:17190200-17247200	Weak transcription	Pancreas	Pancrea
15	chr21:17190400-17247200	Weak transcription	Spleen	Spleen
16	chr21:17190400-17247400	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr21:17191000-17227800	Weak transcription	Colonic Mucosa	Colon
18	chr21:17194200-17228000	Weak transcription	Small Intestine	intestine
19	chr21:17194800-17218000	Weak transcription	Hela-S3	cervix
20	chr21:17197200-17218400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:17198000-17214200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr21:17198000-17248000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr21:17199400-17218800	Weak transcription	Right Ventricle	heart
24	chr21:17199800-17214200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr21:17199800-17246800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr21:17199800-17247200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr21:17200800-17245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr21:17201200-17230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr21:17201400-17245400	Weak transcription	Fetal Stomach	stomach
30	chr21:17204400-17239000	Weak transcription	Brain Substantia Nigra	brain
31	chr21:17204400-17246400	Weak transcription	Brain Angular Gyrus	brain
32	chr21:17204400-17246800	Weak transcription	Brain Anterior Caudate	brain
33	chr21:17204600-17214200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr21:17204600-17214800	Weak transcription	K562	blood
35	chr21:17204600-17219800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr21:17204600-17220000	Weak transcription	Thymus	Thymus
37	chr21:17204600-17229200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr21:17204600-17230200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr21:17204600-17247800	Weak transcription	HepG2	liver
40	chr21:17204600-17252800	Weak transcription	Brain Hippocampus Middle	brain
41	chr21:17204800-17214600	Weak transcription	HSMMtube	muscle
42	chr21:17207200-17221000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr21:17207600-17214400	Weak transcription	Fetal Kidney	kidney
44	chr21:17207600-17229600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr21:17207800-17214800	Weak transcription	Fetal Lung	lung
46	chr21:17208200-17214000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr21:17208200-17214600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:17208200-17214600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr21:17209600-17215600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr21:17209800-17216600	Strong transcription	Primary B cells from peripheral blood	blood

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