Variant report

Variant	rs2242681
Chromosome Location	chr21:17212394-17212395
allele	A/C
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	GATA3	chr21:17211832-17212435	SK-N-SH	brain:	n/a	chr21:17211895-17211905 chr21:17212375-17212383 chr21:17211893-17211903 chr21:17212402-17212413 chr21:17211896-17211905
2	TCF12	chr21:17211823-17212444	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr21:17211820-17212440	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr21:17211825-17212674	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:17210212..17212761-chr21:17213136..17214985,3	MCF-7	breast:
2	chr21:17204445..17206972-chr21:17210120..17212633,3	K562	blood:
3	chr21:17208516..17210345-chr21:17212291..17213880,2	K562	blood:
4	chr21:17211111..17214021-chr21:17219492..17221299,2	K562	blood:

Variant related genes	Relation type
USP25	TF binding region
ENSG00000155313	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1022457	0.81[EUR][1000 genomes]
rs10482875	0.90[AMR][1000 genomes]
rs10482876	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11910884	0.94[EUR][1000 genomes]
rs1543299	0.82[AMR][1000 genomes]
rs17241409	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17241416	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17241423	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17241430	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17241444	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17241460	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17241481	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17275511	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17307120	0.86[AMR][1000 genomes]
rs17307170	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17307176	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17307190	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17307197	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17307204	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2026853	0.89[EUR][1000 genomes]
rs2205585	0.94[EUR][1000 genomes]
rs2205588	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2205589	0.90[EUR][1000 genomes]
rs2223176	0.94[EUR][1000 genomes]
rs2242676	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2242680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245574	0.94[EUR][1000 genomes]
rs2404000	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823471	0.81[ASN][1000 genomes]
rs2823478	0.82[EUR][1000 genomes]
rs2823481	0.83[ASN][1000 genomes]
rs2823483	0.83[ASN][1000 genomes]
rs2823484	0.83[ASN][1000 genomes]
rs2823491	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823493	0.94[EUR][1000 genomes]
rs2823495	0.94[EUR][1000 genomes]
rs2823496	0.94[EUR][1000 genomes]
rs2823497	0.94[EUR][1000 genomes]
rs2823498	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2823499	0.95[EUR][1000 genomes]
rs2823500	0.89[EUR][1000 genomes]
rs2823505	0.95[EUR][1000 genomes]
rs2823510	0.81[EUR][1000 genomes]
rs2823511	0.81[EUR][1000 genomes]
rs2823513	0.83[EUR][1000 genomes]
rs3787577	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55806628	0.82[AMR][1000 genomes]
rs56333224	0.90[AMR][1000 genomes]
rs56410772	0.95[AMR][1000 genomes]
rs56666611	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57733106	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59084861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59420372	0.90[AMR][1000 genomes]
rs60529604	0.90[AMR][1000 genomes]
rs6517675	0.95[EUR][1000 genomes]
rs7278727	0.93[EUR][1000 genomes]
rs7281511	0.95[EUR][1000 genomes]
rs7282314	0.82[AMR][1000 genomes]
rs73181987	0.82[AMR][1000 genomes]
rs73346766	0.95[EUR][1000 genomes]
rs73346769	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73357260	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8128073	0.98[EUR][1000 genomes]
rs8128766	0.95[EUR][1000 genomes]
rs8133079	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9974210	0.95[EUR][1000 genomes]
rs9976815	0.94[EUR][1000 genomes]
rs9977000	0.94[EUR][1000 genomes]
rs9977069	0.83[EUR][1000 genomes]
rs9981766	0.94[EUR][1000 genomes]
rs9983248	0.95[EUR][1000 genomes]
rs9983385	0.95[EUR][1000 genomes]
rs9983858	0.95[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:117 , 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	chr21:17188200-17213400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:17188200-17246800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr21:17188400-17247200	Weak transcription	Ovary	ovary
11	chr21:17188400-17253200	Weak transcription	Fetal Brain Female	brain
12	chr21:17188600-17213400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr21:17188800-17247000	Weak transcription	Brain Germinal Matrix	brain
14	chr21:17188800-17252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr21:17190200-17245400	Weak transcription	Lung	lung
16	chr21:17190200-17247200	Weak transcription	Pancreas	Pancrea
17	chr21:17190400-17247200	Weak transcription	Spleen	Spleen
18	chr21:17190400-17247400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr21:17191000-17227800	Weak transcription	Colonic Mucosa	Colon
20	chr21:17191800-17212800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr21:17194200-17228000	Weak transcription	Small Intestine	intestine
22	chr21:17194800-17218000	Weak transcription	Hela-S3	cervix
23	chr21:17197200-17218400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:17198000-17214200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr21:17198000-17248000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr21:17199400-17218800	Weak transcription	Right Ventricle	heart
27	chr21:17199600-17213200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr21:17199800-17214200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr21:17199800-17246800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr21:17199800-17247200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr21:17200000-17213400	Weak transcription	NHDF-Ad	bronchial
32	chr21:17200800-17245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr21:17201200-17230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr21:17201400-17245400	Weak transcription	Fetal Stomach	stomach
35	chr21:17204200-17213400	Weak transcription	NHLF	lung
36	chr21:17204400-17239000	Weak transcription	Brain Substantia Nigra	brain
37	chr21:17204400-17246400	Weak transcription	Brain Angular Gyrus	brain
38	chr21:17204400-17246800	Weak transcription	Brain Anterior Caudate	brain
39	chr21:17204600-17213000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr21:17204600-17213600	Weak transcription	A549	lung
41	chr21:17204600-17214200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr21:17204600-17214800	Weak transcription	K562	blood
43	chr21:17204600-17219800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr21:17204600-17220000	Weak transcription	Thymus	Thymus
45	chr21:17204600-17229200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr21:17204600-17230200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr21:17204600-17247800	Weak transcription	HepG2	liver
48	chr21:17204600-17252800	Weak transcription	Brain Hippocampus Middle	brain
49	chr21:17204800-17214600	Weak transcription	HSMMtube	muscle
50	chr21:17205200-17212800	Weak transcription	Placenta	Placenta

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