Variant report

Variant	rs9983458
Chromosome Location	chr21:17158876-17158877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10482875	0.83[CEU][hapmap]
rs10482876	1.00[CEU][hapmap]
rs11910884	0.81[CEU][hapmap];0.82[AFR][1000 genomes]
rs11911814	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1543299	0.91[CEU][hapmap]
rs17241416	0.91[CEU][hapmap]
rs17241423	0.89[CEU][hapmap]
rs17241430	0.91[CEU][hapmap]
rs17241444	0.91[CEU][hapmap]
rs17307120	0.83[CEU][hapmap]
rs17307176	1.00[CEU][hapmap]
rs1989381	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2026853	1.00[CEU][hapmap]
rs2205585	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2205589	0.84[ASN][1000 genomes]
rs2223176	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2242676	0.91[CEU][hapmap]
rs2245574	0.82[CEU][hapmap];0.80[ASN][1000 genomes]
rs2404001	0.83[CEU][hapmap]
rs2823455	0.91[CEU][hapmap]
rs2823462	0.83[CEU][hapmap]
rs2823463	0.83[CEU][hapmap]
rs2823469	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2823470	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2823471	0.91[CEU][hapmap]
rs2823472	1.00[CEU][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823476	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2823478	1.00[CEU][hapmap]
rs2823482	0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2823489	1.00[CEU][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2823491	1.00[CEU][hapmap]
rs2823493	0.91[CEU][hapmap];0.82[ASN][1000 genomes]
rs2823495	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2823496	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2823497	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2823499	1.00[CEU][hapmap]
rs2823500	0.91[CEU][hapmap];0.84[ASN][1000 genomes]
rs2823504	0.91[CEU][hapmap]
rs2823505	0.80[AFR][1000 genomes]
rs28725201	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3787577	1.00[CEU][hapmap]
rs6517609	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6517611	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6517613	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6517648	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6517652	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs722887	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7277807	0.83[CEU][hapmap]
rs7278428	0.83[CEU][hapmap]
rs7278727	0.81[ASN][1000 genomes]
rs7279157	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7279170	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7281511	0.91[CEU][hapmap];0.87[YRI][hapmap]
rs7283707	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8127158	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8134327	0.91[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9941829	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9974210	0.81[AFR][1000 genomes]
rs9977000	0.81[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs9981766	0.82[AFR][1000 genomes]
rs9982083	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9982479	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9983858	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17145800-17166600	Weak transcription	Psoas Muscle	Psoas
2	chr21:17148000-17160200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:17151600-17160600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr21:17151800-17191000	Weak transcription	NH-A	brain
5	chr21:17154800-17159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:17154800-17161000	Weak transcription	Stomach Mucosa	stomach
7	chr21:17155000-17160400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:17155000-17161200	Weak transcription	Gastric	stomach
9	chr21:17155000-17161200	Weak transcription	HMEC	breast
10	chr21:17155000-17165200	Weak transcription	Brain Hippocampus Middle	brain
11	chr21:17155000-17166600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr21:17155000-17166800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr21:17155000-17171000	Weak transcription	Dnd41	blood
14	chr21:17155000-17179800	Weak transcription	Spleen	Spleen
15	chr21:17155000-17187400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr21:17155000-17188600	Weak transcription	HepG2	liver
17	chr21:17155200-17159400	Weak transcription	HUVEC	blood vessel
18	chr21:17155200-17160400	Weak transcription	Aorta	Aorta
19	chr21:17155200-17160600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr21:17155200-17160600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr21:17155200-17160600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:17155200-17160800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr21:17155200-17160800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr21:17155200-17160800	Weak transcription	Hela-S3	cervix
25	chr21:17155200-17160800	Weak transcription	NHDF-Ad	bronchial
26	chr21:17155200-17161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr21:17155200-17161000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr21:17155200-17161000	Weak transcription	NHLF	lung
29	chr21:17155200-17161200	Weak transcription	Adipose Nuclei	Adipose
30	chr21:17155200-17161200	Weak transcription	Osteobl	bone
31	chr21:17155200-17162400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:17155200-17163600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr21:17155200-17166000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr21:17155200-17166600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr21:17155200-17167600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr21:17155200-17168200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr21:17155200-17168600	Weak transcription	K562	blood
38	chr21:17155200-17169800	Weak transcription	Liver	Liver
39	chr21:17155200-17169800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr21:17155200-17177000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr21:17155200-17177000	Weak transcription	Brain Anterior Caudate	brain
42	chr21:17155200-17177000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr21:17155200-17177000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr21:17155200-17179200	Weak transcription	Fetal Intestine Large	intestine
45	chr21:17155200-17179200	Weak transcription	Left Ventricle	heart
46	chr21:17155200-17181200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr21:17155200-17181400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr21:17155200-17181400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr21:17155200-17182200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr21:17155200-17183200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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