Variant report

Variant	rs9981766
Chromosome Location	chr21:17170305-17170306
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	IRF1	chr21:17169397-17170836	K562	blood:	n/a	chr21:17170736-17170746 chr21:17169995-17170016 chr21:17170753-17170767
2	POLR2A	chr21:17170188-17170442	GM12878	blood:	n/a	n/a
3	POLR2A	chr21:17169926-17170307	MCF10A-Er-Src	breast:	n/a	n/a
4	IRF1	chr21:17169639-17170518	K562	blood:	n/a	chr21:17169995-17170016

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17102367..17105590-chr21:17169979..17171501,3	K562	blood:

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

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs1022457	0.83[EUR][1000 genomes]
rs10482876	0.81[EUR][1000 genomes]
rs11909953	0.84[AFR][1000 genomes]
rs11910884	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17241409	0.82[EUR][1000 genomes]
rs17241416	0.81[EUR][1000 genomes]
rs17241444	0.85[EUR][1000 genomes]
rs17241460	0.94[EUR][1000 genomes]
rs17241481	0.94[EUR][1000 genomes]
rs17275511	0.95[EUR][1000 genomes]
rs17307170	0.81[EUR][1000 genomes]
rs17307176	0.95[EUR][1000 genomes]
rs17307190	0.94[EUR][1000 genomes]
rs17307197	0.94[EUR][1000 genomes]
rs17307204	0.94[EUR][1000 genomes]
rs2026853	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2205585	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2205588	0.94[EUR][1000 genomes]
rs2205589	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2223176	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2242676	0.82[EUR][1000 genomes]
rs2242680	0.94[EUR][1000 genomes]
rs2242681	0.94[EUR][1000 genomes]
rs2245574	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2404000	0.94[EUR][1000 genomes]
rs2823469	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2823470	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2823471	0.85[EUR][1000 genomes]
rs2823472	0.86[AFR][1000 genomes]
rs2823476	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2823478	0.82[EUR][1000 genomes]
rs2823482	0.90[AFR][1000 genomes]
rs2823489	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2823491	0.88[EUR][1000 genomes]
rs2823493	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823495	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823496	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823497	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823498	0.92[EUR][1000 genomes]
rs2823499	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2823500	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2823502	0.90[AFR][1000 genomes]
rs2823503	0.90[AFR][1000 genomes]
rs2823505	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2823510	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2823511	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2823513	0.80[EUR][1000 genomes]
rs28627435	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28725201	0.83[ASN][1000 genomes]
rs3787577	0.95[EUR][1000 genomes]
rs4580465	0.83[AMR][1000 genomes]
rs56666611	0.84[EUR][1000 genomes]
rs57733106	0.81[EUR][1000 genomes]
rs59084861	0.94[EUR][1000 genomes]
rs6517609	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6517611	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6517613	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6517648	0.91[AFR][1000 genomes]
rs6517652	0.92[AFR][1000 genomes]
rs6517675	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs722887	0.85[AFR][1000 genomes]
rs7278428	0.80[AMR][1000 genomes]
rs7278727	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7279157	0.84[AFR][1000 genomes]
rs7279170	0.85[AFR][1000 genomes]
rs7281511	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7283707	0.85[AFR][1000 genomes]
rs73346766	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73346769	0.91[EUR][1000 genomes]
rs73355479	0.81[EUR][1000 genomes]
rs73357260	0.84[EUR][1000 genomes]
rs8127158	0.82[AFR][1000 genomes]
rs8128073	0.92[EUR][1000 genomes]
rs8128766	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8132755	0.81[AFR][1000 genomes]
rs8133079	0.94[EUR][1000 genomes]
rs8134327	0.84[AFR][1000 genomes]
rs9941829	0.85[AFR][1000 genomes]
rs9974210	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9976815	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9977000	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9977069	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9982479	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9983248	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9983385	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9983458	0.82[AFR][1000 genomes]
rs9983858	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17151800-17191000	Weak transcription	NH-A	brain
2	chr21:17155000-17171000	Weak transcription	Dnd41	blood
3	chr21:17155000-17179800	Weak transcription	Spleen	Spleen
4	chr21:17155000-17187400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr21:17155000-17188600	Weak transcription	HepG2	liver
6	chr21:17155200-17177000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr21:17155200-17177000	Weak transcription	Brain Anterior Caudate	brain
8	chr21:17155200-17177000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:17155200-17177000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr21:17155200-17179200	Weak transcription	Fetal Intestine Large	intestine
11	chr21:17155200-17179200	Weak transcription	Left Ventricle	heart
12	chr21:17155200-17181200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr21:17155200-17181400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:17155200-17181400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr21:17155200-17182200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr21:17155200-17183200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr21:17155200-17183200	Weak transcription	Placenta	Placenta
18	chr21:17155200-17184600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:17155200-17186200	Weak transcription	Fetal Thymus	thymus
20	chr21:17155200-17187200	Weak transcription	Thymus	Thymus
21	chr21:17155200-17187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:17155200-17187800	Weak transcription	Fetal Kidney	kidney
23	chr21:17155200-17189800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr21:17155200-17197600	Weak transcription	Fetal Heart	heart
25	chr21:17155200-17199200	Weak transcription	Right Ventricle	heart
26	chr21:17155200-17203800	Weak transcription	Colon Smooth Muscle	Colon
27	chr21:17155200-17209800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
29	chr21:17155600-17176800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr21:17155600-17179200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr21:17155600-17182000	Weak transcription	Fetal Lung	lung
32	chr21:17155800-17176800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr21:17155800-17177200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:17155800-17185400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:17155800-17186200	Weak transcription	Fetal Muscle Leg	muscle
36	chr21:17155800-17187200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr21:17156000-17176200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr21:17157000-17178400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr21:17161400-17187200	Weak transcription	Aorta	Aorta
40	chr21:17161600-17172600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr21:17161600-17187400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr21:17162000-17177200	Weak transcription	NHDF-Ad	bronchial
43	chr21:17162000-17182000	Weak transcription	Osteobl	bone
44	chr21:17162400-17171400	Weak transcription	HSMM	muscle
45	chr21:17162400-17179200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr21:17162800-17179800	Weak transcription	HSMMtube	muscle
47	chr21:17164600-17176800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr21:17164600-17183400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr21:17166200-17177000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr21:17166600-17174000	Strong transcription	Monocytes-CD14+_RO01746	blood

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