Variant report

Variant	rs2823498
Chromosome Location	chr21:17182883-17182884
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10482875	0.83[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.83[TSI][hapmap]
rs10482876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11910884	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs1543299	0.91[CEU][hapmap];0.85[GIH][hapmap]
rs17241395	0.81[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17241409	0.83[EUR][1000 genomes]
rs17241416	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17241423	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17241430	1.00[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs17241444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17241460	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17241481	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17275511	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17307120	0.83[CEU][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.85[ASN][1000 genomes]
rs17307170	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17307176	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17307190	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17307197	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17307204	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2026853	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2205585	0.92[EUR][1000 genomes]
rs2205588	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2205589	0.89[EUR][1000 genomes]
rs2223176	0.92[EUR][1000 genomes]
rs2242676	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2242680	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2242681	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2245574	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs2404000	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2404001	0.83[CEU][hapmap]
rs2823455	0.91[CEU][hapmap];0.85[CHD][hapmap]
rs2823457	0.89[JPT][hapmap]
rs2823462	0.83[CEU][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2823463	0.83[CEU][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2823471	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs2823472	1.00[CEU][hapmap]
rs2823478	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs2823481	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2823483	0.90[ASN][1000 genomes]
rs2823484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2823489	1.00[CEU][hapmap]
rs2823491	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823493	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2823495	0.92[EUR][1000 genomes]
rs2823496	0.92[EUR][1000 genomes]
rs2823497	0.95[EUR][1000 genomes]
rs2823499	1.00[CEU][hapmap];0.85[TSI][hapmap];0.94[EUR][1000 genomes]
rs2823500	1.00[CEU][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs2823504	0.91[CEU][hapmap]
rs2823505	0.94[EUR][1000 genomes]
rs2823513	0.81[EUR][1000 genomes]
rs28627435	0.87[ASN][1000 genomes]
rs3787577	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4580465	0.82[ASN][1000 genomes]
rs56333224	0.83[ASN][1000 genomes]
rs56410772	0.81[AMR][1000 genomes]
rs56666611	0.92[ASN][1000 genomes]
rs57733106	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59084861	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60529604	0.81[ASN][1000 genomes]
rs6517609	1.00[CEU][hapmap]
rs6517613	1.00[CEU][hapmap]
rs6517648	1.00[CEU][hapmap]
rs6517652	1.00[CEU][hapmap]
rs6517675	0.94[EUR][1000 genomes]
rs7277807	0.83[CEU][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs7278428	0.83[CEU][hapmap];0.86[CHD][hapmap]
rs7278727	0.91[EUR][1000 genomes]
rs7281511	1.00[CEU][hapmap];0.82[CHB][hapmap];0.94[EUR][1000 genomes]
rs7282314	0.81[ASN][1000 genomes]
rs7283707	1.00[CEU][hapmap]
rs7283764	0.83[CEU][hapmap]
rs73346766	0.94[EUR][1000 genomes]
rs73346769	0.95[EUR][1000 genomes]
rs73355479	0.87[ASN][1000 genomes]
rs73357260	0.88[ASN][1000 genomes]
rs73892510	0.87[ASN][1000 genomes]
rs8127158	1.00[CEU][hapmap]
rs8128073	0.97[EUR][1000 genomes]
rs8128766	0.94[EUR][1000 genomes]
rs8133079	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8134327	0.91[CEU][hapmap]
rs9974210	0.94[EUR][1000 genomes]
rs9976815	0.95[EUR][1000 genomes]
rs9977000	0.95[EUR][1000 genomes]
rs9977069	0.81[EUR][1000 genomes]
rs9981766	0.92[EUR][1000 genomes]
rs9983248	0.94[EUR][1000 genomes]
rs9983385	0.94[EUR][1000 genomes]
rs9983858	0.94[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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17151800-17191000	Weak transcription	NH-A	brain
2	chr21:17155000-17187400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr21:17155000-17188600	Weak transcription	HepG2	liver
4	chr21:17155200-17183200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr21:17155200-17183200	Weak transcription	Placenta	Placenta
6	chr21:17155200-17184600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:17155200-17186200	Weak transcription	Fetal Thymus	thymus
8	chr21:17155200-17187200	Weak transcription	Thymus	Thymus
9	chr21:17155200-17187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:17155200-17187800	Weak transcription	Fetal Kidney	kidney
11	chr21:17155200-17189800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr21:17155200-17197600	Weak transcription	Fetal Heart	heart
13	chr21:17155200-17199200	Weak transcription	Right Ventricle	heart
14	chr21:17155200-17203800	Weak transcription	Colon Smooth Muscle	Colon
15	chr21:17155200-17209800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
17	chr21:17155800-17185400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:17155800-17186200	Weak transcription	Fetal Muscle Leg	muscle
19	chr21:17155800-17187200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr21:17161400-17187200	Weak transcription	Aorta	Aorta
21	chr21:17161600-17187400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:17164600-17183400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:17169000-17194200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr21:17169600-17183000	Weak transcription	HUVEC	blood vessel
25	chr21:17170000-17185000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr21:17170400-17183200	Weak transcription	GM12878-XiMat	blood
27	chr21:17170400-17185800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr21:17170800-17183200	Weak transcription	Liver	Liver
29	chr21:17171400-17187600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr21:17174400-17193000	Weak transcription	NHEK	skin
31	chr21:17174600-17187000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:17175800-17189800	Weak transcription	NHLF	lung
33	chr21:17176000-17198200	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr21:17176400-17183000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr21:17176600-17187200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:17177000-17184200	Strong transcription	Primary B cells from cord blood	blood
37	chr21:17177200-17186200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr21:17177200-17186400	Weak transcription	Brain Germinal Matrix	brain
39	chr21:17177200-17187200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr21:17177200-17187200	Weak transcription	Ovary	ovary
41	chr21:17177200-17189800	Weak transcription	Pancreas	Pancrea
42	chr21:17177200-17208800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr21:17177400-17185200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr21:17177400-17187200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr21:17177600-17184000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr21:17177600-17190000	Weak transcription	Brain Anterior Caudate	brain
47	chr21:17177800-17187400	Weak transcription	Gastric	stomach
48	chr21:17178000-17185000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr21:17178200-17185200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr21:17178400-17186000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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