Variant report

Variant	rs2223176
Chromosome Location	chr21:17166434-17166435
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17165873..17167703-chr21:17229304..17232137,2	K562	blood:
2	chr21:17141227..17143444-chr21:17164471..17166670,2	K562	blood:

Extended variants
information (count: 90 )
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	0.82[AFR][1000 genomes]
rs11910884	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2205585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2205588	0.94[EUR][1000 genomes]
rs2205589	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2242676	0.82[EUR][1000 genomes]
rs2242680	0.94[EUR][1000 genomes]
rs2242681	0.94[EUR][1000 genomes]
rs2245574	0.91[AFR][1000 genomes];0.82[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];0.84[ASN][1000 genomes]
rs2823470	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2823471	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2823472	0.86[AFR][1000 genomes]
rs2823476	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2823478	0.82[EUR][1000 genomes]
rs2823482	0.90[AFR][1000 genomes]
rs2823489	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2823491	0.88[EUR][1000 genomes]
rs2823493	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823495	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2823497	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2823498	0.92[EUR][1000 genomes]
rs2823499	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2823500	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2823502	0.88[AFR][1000 genomes]
rs2823503	0.88[AFR][1000 genomes]
rs2823505	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2823510	0.83[EUR][1000 genomes]
rs2823511	0.83[EUR][1000 genomes]
rs2823513	0.80[EUR][1000 genomes]
rs28553297	0.80[AFR][1000 genomes]
rs28627435	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs28725201	0.84[ASN][1000 genomes]
rs3787577	0.95[EUR][1000 genomes]
rs4580465	0.88[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];0.84[ASN][1000 genomes]
rs6517611	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6517613	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6517648	0.91[AFR][1000 genomes]
rs6517652	0.92[AFR][1000 genomes]
rs6517675	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs722887	0.85[AFR][1000 genomes]
rs7278727	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7279157	0.84[AFR][1000 genomes]
rs7279170	0.85[AFR][1000 genomes]
rs7281511	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7283707	0.85[AFR][1000 genomes]
rs73346766	0.92[AFR][1000 genomes];0.85[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	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[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	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9976815	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9977000	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9977069	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9981766	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9982479	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs9983248	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9983385	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9983458	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9983858	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	esv1815433	chr21:17106192-17167353	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	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
3	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17145800-17166600	Weak transcription	Psoas Muscle	Psoas
2	chr21:17151800-17191000	Weak transcription	NH-A	brain
3	chr21:17155000-17166600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr21:17155000-17166800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr21:17155000-17171000	Weak transcription	Dnd41	blood
6	chr21:17155000-17179800	Weak transcription	Spleen	Spleen
7	chr21:17155000-17187400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:17155000-17188600	Weak transcription	HepG2	liver
9	chr21:17155200-17166600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr21:17155200-17167600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr21:17155200-17168200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr21:17155200-17168600	Weak transcription	K562	blood
13	chr21:17155200-17169800	Weak transcription	Liver	Liver
14	chr21:17155200-17169800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr21:17155200-17177000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr21:17155200-17177000	Weak transcription	Brain Anterior Caudate	brain
17	chr21:17155200-17177000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr21:17155200-17177000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr21:17155200-17179200	Weak transcription	Fetal Intestine Large	intestine
20	chr21:17155200-17179200	Weak transcription	Left Ventricle	heart
21	chr21:17155200-17181200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr21:17155200-17181400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:17155200-17181400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr21:17155200-17182200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr21:17155200-17183200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr21:17155200-17183200	Weak transcription	Placenta	Placenta
27	chr21:17155200-17184600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr21:17155200-17186200	Weak transcription	Fetal Thymus	thymus
29	chr21:17155200-17187200	Weak transcription	Thymus	Thymus
30	chr21:17155200-17187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr21:17155200-17187800	Weak transcription	Fetal Kidney	kidney
32	chr21:17155200-17189800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr21:17155200-17197600	Weak transcription	Fetal Heart	heart
34	chr21:17155200-17199200	Weak transcription	Right Ventricle	heart
35	chr21:17155200-17203800	Weak transcription	Colon Smooth Muscle	Colon
36	chr21:17155200-17209800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
38	chr21:17155400-17166600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr21:17155400-17169000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr21:17155600-17176800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr21:17155600-17179200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr21:17155600-17182000	Weak transcription	Fetal Lung	lung
43	chr21:17155800-17167800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr21:17155800-17167800	Weak transcription	GM12878-XiMat	blood
45	chr21:17155800-17169400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr21:17155800-17176800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr21:17155800-17177200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:17155800-17185400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:17155800-17186200	Weak transcription	Fetal Muscle Leg	muscle
50	chr21:17155800-17187200	Weak transcription	Fetal Muscle Trunk	muscle

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