Variant report

Variant	rs2404000
Chromosome Location	chr21:17185430-17185431
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17183890..17186142-chr21:17188084..17189942,2	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1022457	0.81[EUR][1000 genomes]
rs10482875	0.83[CEU][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes]
rs10482876	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11910884	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1543299	0.91[CEU][hapmap];0.85[GIH][hapmap]
rs17241395	0.85[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17241409	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17241416	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17241423	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17241430	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17241444	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17241460	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17241481	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17275511	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17307120	0.83[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17307170	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17307176	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17307190	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17307197	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17307204	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2026853	1.00[CEU][hapmap];0.84[TSI][hapmap];0.89[EUR][1000 genomes]
rs2205585	0.94[EUR][1000 genomes]
rs2205588	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2205589	0.90[EUR][1000 genomes]
rs2223176	0.94[EUR][1000 genomes]
rs2242676	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2242680	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2242681	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2245574	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs2404001	0.83[CEU][hapmap]
rs2823455	0.91[CEU][hapmap]
rs2823457	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2823462	0.83[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs2823463	0.83[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs2823471	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.90[ASN][1000 genomes]
rs2823472	1.00[CEU][hapmap]
rs2823478	1.00[CEU][hapmap];0.85[GIH][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs2823481	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2823483	0.89[ASN][1000 genomes]
rs2823484	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2823489	1.00[CEU][hapmap]
rs2823491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2823493	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2823495	0.94[EUR][1000 genomes]
rs2823496	0.94[EUR][1000 genomes]
rs2823497	0.94[EUR][1000 genomes]
rs2823498	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823499	1.00[CEU][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes]
rs2823500	1.00[CEU][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes]
rs2823504	0.91[CEU][hapmap]
rs2823505	0.95[EUR][1000 genomes]
rs2823510	0.81[EUR][1000 genomes]
rs2823511	0.81[EUR][1000 genomes]
rs2823513	0.83[EUR][1000 genomes]
rs28627435	0.89[ASN][1000 genomes]
rs3787577	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4580465	0.84[ASN][1000 genomes]
rs56333224	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56410772	0.90[AMR][1000 genomes]
rs56666611	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57733106	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59084861	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59420372	0.85[AMR][1000 genomes]
rs60529604	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6517609	1.00[CEU][hapmap]
rs6517613	1.00[CEU][hapmap]
rs6517648	1.00[CEU][hapmap]
rs6517652	1.00[CEU][hapmap]
rs6517675	0.95[EUR][1000 genomes]
rs7277807	0.83[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs7278428	0.83[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap]
rs7278727	0.93[EUR][1000 genomes]
rs7281511	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7282314	0.83[ASN][1000 genomes]
rs7283707	1.00[CEU][hapmap]
rs7283764	0.83[CEU][hapmap]
rs73346766	0.95[EUR][1000 genomes]
rs73346769	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73355479	0.89[ASN][1000 genomes]
rs73357260	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73892510	0.85[ASN][1000 genomes]
rs8127158	1.00[CEU][hapmap]
rs8128073	0.98[EUR][1000 genomes]
rs8128766	0.95[EUR][1000 genomes]
rs8133079	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8134327	0.91[CEU][hapmap]
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:112 , 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	chr21:17155200-17186200	Weak transcription	Fetal Thymus	thymus
5	chr21:17155200-17187200	Weak transcription	Thymus	Thymus
6	chr21:17155200-17187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr21:17155200-17187800	Weak transcription	Fetal Kidney	kidney
8	chr21:17155200-17189800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr21:17155200-17197600	Weak transcription	Fetal Heart	heart
10	chr21:17155200-17199200	Weak transcription	Right Ventricle	heart
11	chr21:17155200-17203800	Weak transcription	Colon Smooth Muscle	Colon
12	chr21:17155200-17209800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
14	chr21:17155800-17186200	Weak transcription	Fetal Muscle Leg	muscle
15	chr21:17155800-17187200	Weak transcription	Fetal Muscle Trunk	muscle
16	chr21:17161400-17187200	Weak transcription	Aorta	Aorta
17	chr21:17161600-17187400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr21:17169000-17194200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr21:17170400-17185800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr21:17171400-17187600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr21:17174400-17193000	Weak transcription	NHEK	skin
22	chr21:17174600-17187000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr21:17175800-17189800	Weak transcription	NHLF	lung
24	chr21:17176000-17198200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr21:17176600-17187200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:17177200-17186200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr21:17177200-17186400	Weak transcription	Brain Germinal Matrix	brain
28	chr21:17177200-17187200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr21:17177200-17187200	Weak transcription	Ovary	ovary
30	chr21:17177200-17189800	Weak transcription	Pancreas	Pancrea
31	chr21:17177200-17208800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr21:17177400-17187200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr21:17177600-17190000	Weak transcription	Brain Anterior Caudate	brain
34	chr21:17177800-17187400	Weak transcription	Gastric	stomach
35	chr21:17178400-17186000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr21:17178400-17248200	Weak transcription	Esophagus	oesophagus
37	chr21:17178400-17252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr21:17178600-17185600	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr21:17178800-17211400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr21:17179400-17187200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr21:17179800-17192400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr21:17180000-17186200	Weak transcription	Fetal Intestine Small	intestine
43	chr21:17180000-17187200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr21:17180000-17187200	Weak transcription	Fetal Stomach	stomach
45	chr21:17180000-17187200	Weak transcription	Spleen	Spleen
46	chr21:17180000-17187400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr21:17180200-17189800	Weak transcription	Left Ventricle	heart
48	chr21:17180400-17187400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr21:17180400-17193000	Weak transcription	NHDF-Ad	bronchial
50	chr21:17180600-17191200	Weak transcription	HMEC	breast

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