Variant report

Variant	rs9983385
Chromosome Location	chr21:17214032-17214033
allele	A/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	TEAD4	chr21:17214030-17214736	ECC-1	luminal epithelium:	n/a	n/a
2	GATA3	chr21:17213992-17214977	SK-N-SH	brain:	n/a	n/a
3	FOXM1	chr21:17214009-17214765	ECC-1	luminal epithelium:	n/a	n/a
4	EP300	chr21:17213945-17214633	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr21:17212955-17214421	K562	blood:	n/a	n/a
6	NFIC	chr21:17214006-17214764	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
USP25	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1022457	0.84[EUR][1000 genomes]
rs11910884	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17241409	0.81[EUR][1000 genomes]
rs17241444	0.84[EUR][1000 genomes]
rs17241460	0.95[EUR][1000 genomes]
rs17241481	0.95[EUR][1000 genomes]
rs17275511	0.94[EUR][1000 genomes]
rs17307176	0.94[EUR][1000 genomes]
rs17307190	0.95[EUR][1000 genomes]
rs17307197	0.95[EUR][1000 genomes]
rs17307204	0.95[EUR][1000 genomes]
rs2026853	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2205585	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2205588	0.95[EUR][1000 genomes]
rs2205589	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2223176	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2242676	0.81[EUR][1000 genomes]
rs2242680	0.95[EUR][1000 genomes]
rs2242681	0.95[EUR][1000 genomes]
rs2245574	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2404000	0.95[EUR][1000 genomes]
rs2823471	0.84[EUR][1000 genomes]
rs2823478	0.81[EUR][1000 genomes]
rs2823489	0.83[ASN][1000 genomes]
rs2823491	0.87[EUR][1000 genomes]
rs2823493	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823495	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823496	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823497	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823498	0.94[EUR][1000 genomes]
rs2823499	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823500	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2823502	0.86[AFR][1000 genomes]
rs2823503	0.86[AFR][1000 genomes]
rs2823504	0.81[EUR][1000 genomes]
rs2823505	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2823510	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2823511	0.90[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2823513	0.81[EUR][1000 genomes]
rs2823517	0.83[AFR][1000 genomes]
rs28469763	0.85[AFR][1000 genomes]
rs3787577	0.94[EUR][1000 genomes]
rs392203	0.88[AFR][1000 genomes]
rs56666611	0.82[EUR][1000 genomes]
rs59084861	0.95[EUR][1000 genomes]
rs6517675	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7278727	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7281511	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73346766	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73346769	0.93[EUR][1000 genomes]
rs73357260	0.82[EUR][1000 genomes]
rs8127570	0.81[EUR][1000 genomes]
rs8128073	0.94[EUR][1000 genomes]
rs8128766	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8133079	0.95[EUR][1000 genomes]
rs9974210	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9976815	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9977000	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9977069	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9981766	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9983248	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9983858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[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	chr21:17188000-17229400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:17188000-17240200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr21:17188200-17246800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:17188400-17247200	Weak transcription	Ovary	ovary
9	chr21:17188400-17253200	Weak transcription	Fetal Brain Female	brain
10	chr21:17188800-17247000	Weak transcription	Brain Germinal Matrix	brain
11	chr21:17188800-17252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr21:17190200-17245400	Weak transcription	Lung	lung
13	chr21:17190200-17247200	Weak transcription	Pancreas	Pancrea
14	chr21:17190400-17247200	Weak transcription	Spleen	Spleen
15	chr21:17190400-17247400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr21:17191000-17227800	Weak transcription	Colonic Mucosa	Colon
17	chr21:17194200-17228000	Weak transcription	Small Intestine	intestine
18	chr21:17194800-17218000	Weak transcription	Hela-S3	cervix
19	chr21:17197200-17218400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr21:17198000-17214200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr21:17198000-17248000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr21:17199400-17218800	Weak transcription	Right Ventricle	heart
23	chr21:17199800-17214200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr21:17199800-17246800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr21:17199800-17247200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr21:17200800-17245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr21:17201200-17230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr21:17201400-17245400	Weak transcription	Fetal Stomach	stomach
29	chr21:17204400-17239000	Weak transcription	Brain Substantia Nigra	brain
30	chr21:17204400-17246400	Weak transcription	Brain Angular Gyrus	brain
31	chr21:17204400-17246800	Weak transcription	Brain Anterior Caudate	brain
32	chr21:17204600-17214200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr21:17204600-17214800	Weak transcription	K562	blood
34	chr21:17204600-17219800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr21:17204600-17220000	Weak transcription	Thymus	Thymus
36	chr21:17204600-17229200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr21:17204600-17230200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr21:17204600-17247800	Weak transcription	HepG2	liver
39	chr21:17204600-17252800	Weak transcription	Brain Hippocampus Middle	brain
40	chr21:17204800-17214600	Weak transcription	HSMMtube	muscle
41	chr21:17207200-17221000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr21:17207600-17214400	Weak transcription	Fetal Kidney	kidney
43	chr21:17207600-17229600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr21:17207800-17214800	Weak transcription	Fetal Lung	lung
45	chr21:17208200-17214600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr21:17208200-17214600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr21:17209600-17215600	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr21:17209800-17216600	Strong transcription	Primary B cells from peripheral blood	blood
49	chr21:17210200-17215800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr21:17210400-17214800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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