Variant report

Variant	rs8128766
Chromosome Location	chr21:17220320-17220321
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17211111..17214021-chr21:17219492..17221299,2	K562	blood:
2	chr21:17194147..17196646-chr21:17217995..17220572,2	K562	blood:

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

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

rs_ID	r²[population]
rs1022457	0.84[EUR][1000 genomes]
rs10482875	0.83[CEU][hapmap]
rs10482876	1.00[CEU][hapmap]
rs11910884	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1543299	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs17241409	0.81[EUR][1000 genomes]
rs17241416	1.00[CEU][hapmap]
rs17241423	1.00[CEU][hapmap]
rs17241430	1.00[CEU][hapmap]
rs17241444	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17241460	0.95[EUR][1000 genomes]
rs17241481	0.95[EUR][1000 genomes]
rs17275511	0.94[EUR][1000 genomes]
rs17307120	0.83[CEU][hapmap]
rs17307176	1.00[CEU][hapmap];0.85[JPT][hapmap];0.94[EUR][1000 genomes]
rs17307190	0.95[EUR][1000 genomes]
rs17307197	0.95[EUR][1000 genomes]
rs17307204	0.95[EUR][1000 genomes]
rs2026853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2205585	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2205588	0.95[EUR][1000 genomes]
rs2205589	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2223176	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2242676	1.00[CEU][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs2242680	0.95[EUR][1000 genomes]
rs2242681	0.95[EUR][1000 genomes]
rs2245574	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2404000	0.95[EUR][1000 genomes]
rs2404001	0.83[CEU][hapmap]
rs2823455	0.91[CEU][hapmap]
rs2823462	0.83[CEU][hapmap]
rs2823463	0.83[CEU][hapmap]
rs2823471	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2823472	0.91[CEU][hapmap];0.94[YRI][hapmap]
rs2823477	0.85[YRI][hapmap]
rs2823478	1.00[CEU][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs2823482	0.88[CHB][hapmap];0.90[YRI][hapmap]
rs2823489	0.91[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.94[YRI][hapmap]
rs2823491	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2823493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823495	0.82[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2823496	0.84[AFR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2823497	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823498	0.94[EUR][1000 genomes]
rs2823499	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823500	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2823502	0.88[AFR][1000 genomes]
rs2823503	0.88[AFR][1000 genomes]
rs2823504	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs2823505	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2823510	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2823511	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2823513	0.81[EUR][1000 genomes]
rs2823517	0.81[AFR][1000 genomes]
rs28469763	0.83[AFR][1000 genomes]
rs3787577	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs392203	0.84[AFR][1000 genomes]
rs56666611	0.82[EUR][1000 genomes]
rs59084861	0.95[EUR][1000 genomes]
rs6517609	0.91[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap]
rs6517613	0.91[CEU][hapmap];0.81[CHB][hapmap];0.90[YRI][hapmap]
rs6517648	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[YRI][hapmap]
rs6517652	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[YRI][hapmap]
rs6517675	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7277807	0.83[CEU][hapmap]
rs7278428	0.83[CEU][hapmap]
rs7278727	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7281511	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7283707	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[YRI][hapmap]
rs7283764	0.83[CEU][hapmap]
rs73346766	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73346769	0.93[EUR][1000 genomes]
rs73357260	0.82[EUR][1000 genomes]
rs8127158	0.91[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.90[YRI][hapmap]
rs8127570	0.81[EUR][1000 genomes]
rs8128073	0.94[EUR][1000 genomes]
rs8133079	0.95[EUR][1000 genomes]
rs8134327	0.91[CEU][hapmap];0.81[CHB][hapmap];0.90[YRI][hapmap]
rs9974210	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9976815	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9977000	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9977069	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9981766	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9983248	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9983385	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9983542	0.85[JPT][hapmap]
rs9983858	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
2	chr21:17178400-17248200	Weak transcription	Esophagus	oesophagus
3	chr21:17178400-17252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:17182400-17227800	Weak transcription	Psoas Muscle	Psoas
5	chr21:17188000-17229400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:17188000-17240200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr21:17188200-17246800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr21:17188400-17247200	Weak transcription	Ovary	ovary
9	chr21:17188400-17253200	Weak transcription	Fetal Brain Female	brain
10	chr21:17188800-17247000	Weak transcription	Brain Germinal Matrix	brain
11	chr21:17188800-17252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr21:17190200-17245400	Weak transcription	Lung	lung
13	chr21:17190200-17247200	Weak transcription	Pancreas	Pancrea
14	chr21:17190400-17247200	Weak transcription	Spleen	Spleen
15	chr21:17190400-17247400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr21:17191000-17227800	Weak transcription	Colonic Mucosa	Colon
17	chr21:17194200-17228000	Weak transcription	Small Intestine	intestine
18	chr21:17198000-17248000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr21:17199800-17246800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr21:17199800-17247200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:17200800-17245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr21:17201200-17230200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr21:17201400-17245400	Weak transcription	Fetal Stomach	stomach
24	chr21:17204400-17239000	Weak transcription	Brain Substantia Nigra	brain
25	chr21:17204400-17246400	Weak transcription	Brain Angular Gyrus	brain
26	chr21:17204400-17246800	Weak transcription	Brain Anterior Caudate	brain
27	chr21:17204600-17229200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr21:17204600-17230200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr21:17204600-17247800	Weak transcription	HepG2	liver
30	chr21:17204600-17252800	Weak transcription	Brain Hippocampus Middle	brain
31	chr21:17207200-17221000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr21:17207600-17229600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr21:17210400-17228600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr21:17210400-17252600	Weak transcription	Aorta	Aorta
35	chr21:17210600-17239000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr21:17210600-17245400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:17210600-17247200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr21:17211000-17245400	Weak transcription	Fetal Intestine Small	intestine
39	chr21:17211000-17246600	Weak transcription	Colon Smooth Muscle	Colon
40	chr21:17211600-17227800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr21:17213600-17227800	Weak transcription	GM12878-XiMat	blood
42	chr21:17214200-17222600	Weak transcription	NHLF	lung
43	chr21:17214200-17245400	Weak transcription	Gastric	stomach
44	chr21:17214600-17221600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr21:17214600-17237800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr21:17214800-17221400	Weak transcription	NHDF-Ad	bronchial
47	chr21:17215000-17220800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr21:17215000-17220800	Weak transcription	Osteobl	bone
49	chr21:17215000-17221000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr21:17215000-17226600	Weak transcription	Primary T cells from cord blood	blood

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