Variant report

Variant	rs1022457
Chromosome Location	chr21:17239731-17239732
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	chr21:17234653..17237049-chr21:17237537..17240783,4	K562	blood:
2	chr21:17234249..17236896-chr21:17237324..17240405,3	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10482876	0.91[CEU][hapmap]
rs11909953	0.80[YRI][hapmap]
rs11910884	0.90[CEU][hapmap];0.85[YRI][hapmap];0.83[EUR][1000 genomes]
rs1543299	0.82[CEU][hapmap]
rs17241416	0.91[CEU][hapmap]
rs17241423	0.89[CEU][hapmap]
rs17241430	0.91[CEU][hapmap]
rs17241444	0.91[CEU][hapmap]
rs17241460	0.81[EUR][1000 genomes]
rs17241481	0.81[EUR][1000 genomes]
rs17307176	0.91[CEU][hapmap]
rs17307190	0.81[EUR][1000 genomes]
rs17307197	0.81[EUR][1000 genomes]
rs17307204	0.81[EUR][1000 genomes]
rs2026853	0.94[ASW][hapmap];0.91[CEU][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs2205585	0.83[EUR][1000 genomes]
rs2205588	0.81[EUR][1000 genomes]
rs2223176	0.83[EUR][1000 genomes]
rs2242676	0.91[CEU][hapmap]
rs2242680	0.81[EUR][1000 genomes]
rs2242681	0.81[EUR][1000 genomes]
rs2245574	0.82[CEU][hapmap];0.86[YRI][hapmap];0.83[EUR][1000 genomes]
rs2404000	0.81[EUR][1000 genomes]
rs2404001	0.91[CEU][hapmap];0.89[CHB][hapmap];0.88[CHD][hapmap]
rs2823454	0.88[JPT][hapmap]
rs2823455	0.82[CEU][hapmap]
rs2823471	0.91[CEU][hapmap]
rs2823472	0.91[CEU][hapmap];0.89[YRI][hapmap]
rs2823477	0.86[YRI][hapmap]
rs2823478	0.91[CEU][hapmap]
rs2823482	0.86[YRI][hapmap]
rs2823487	0.80[YRI][hapmap]
rs2823489	0.91[CEU][hapmap];0.89[YRI][hapmap]
rs2823491	0.91[CEU][hapmap]
rs2823493	0.91[CEU][hapmap];0.83[YRI][hapmap];0.83[EUR][1000 genomes]
rs2823495	0.83[EUR][1000 genomes]
rs2823496	0.83[EUR][1000 genomes]
rs2823497	0.83[EUR][1000 genomes]
rs2823499	0.88[ASW][hapmap];0.91[CEU][hapmap];0.80[MKK][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap];0.84[EUR][1000 genomes]
rs2823500	0.91[CEU][hapmap];0.86[YRI][hapmap]
rs2823502	0.92[ASN][1000 genomes]
rs2823503	0.92[ASN][1000 genomes]
rs2823504	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823505	0.84[EUR][1000 genomes]
rs2823506	0.83[ASN][1000 genomes]
rs2823507	0.90[ASN][1000 genomes]
rs2823510	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823511	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823513	0.97[EUR][1000 genomes]
rs2823517	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823518	0.91[EUR][1000 genomes]
rs28469763	0.86[ASN][1000 genomes]
rs3787577	0.91[CEU][hapmap]
rs392203	0.91[ASN][1000 genomes]
rs463566	0.84[CEU][hapmap]
rs59084861	0.81[EUR][1000 genomes]
rs6517609	0.91[CEU][hapmap];0.86[YRI][hapmap]
rs6517612	0.80[YRI][hapmap]
rs6517613	0.91[CEU][hapmap];0.86[YRI][hapmap]
rs6517648	0.89[ASW][hapmap];0.91[CEU][hapmap];0.86[YRI][hapmap]
rs6517652	0.89[ASW][hapmap];0.91[CEU][hapmap];0.86[YRI][hapmap]
rs6517675	0.84[EUR][1000 genomes]
rs7278727	0.87[EUR][1000 genomes]
rs7281511	0.91[CEU][hapmap];0.96[YRI][hapmap];0.84[EUR][1000 genomes]
rs7283467	0.81[AMR][1000 genomes]
rs7283707	0.89[ASW][hapmap];0.91[CEU][hapmap];0.83[YRI][hapmap]
rs73346766	0.84[EUR][1000 genomes]
rs8127158	0.91[CEU][hapmap];0.86[YRI][hapmap]
rs8127570	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8127734	0.99[ASN][1000 genomes]
rs8128766	0.84[EUR][1000 genomes]
rs8130607	0.80[YRI][hapmap]
rs8133079	0.81[EUR][1000 genomes]
rs8134327	0.89[ASW][hapmap];0.82[CEU][hapmap];0.86[YRI][hapmap]
rs97928	0.88[JPT][hapmap]
rs9974210	0.84[EUR][1000 genomes]
rs9976815	0.83[EUR][1000 genomes]
rs9977000	0.83[EUR][1000 genomes]
rs9980260	0.91[ASN][1000 genomes]
rs9981766	0.83[EUR][1000 genomes]
rs9983248	0.84[EUR][1000 genomes]
rs9983385	0.84[EUR][1000 genomes]
rs9983858	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1022457	TACC2	cis	Temporal Cortex	GTEx

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	chr21:17188000-17240200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr21:17188200-17246800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr21:17188400-17247200	Weak transcription	Ovary	ovary
7	chr21:17188400-17253200	Weak transcription	Fetal Brain Female	brain
8	chr21:17188800-17247000	Weak transcription	Brain Germinal Matrix	brain
9	chr21:17188800-17252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr21:17190200-17245400	Weak transcription	Lung	lung
11	chr21:17190200-17247200	Weak transcription	Pancreas	Pancrea
12	chr21:17190400-17247200	Weak transcription	Spleen	Spleen
13	chr21:17190400-17247400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr21:17198000-17248000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr21:17199800-17246800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr21:17199800-17247200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:17200800-17245200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr21:17201400-17245400	Weak transcription	Fetal Stomach	stomach
19	chr21:17204400-17246400	Weak transcription	Brain Angular Gyrus	brain
20	chr21:17204400-17246800	Weak transcription	Brain Anterior Caudate	brain
21	chr21:17204600-17247800	Weak transcription	HepG2	liver
22	chr21:17204600-17252800	Weak transcription	Brain Hippocampus Middle	brain
23	chr21:17210400-17252600	Weak transcription	Aorta	Aorta
24	chr21:17210600-17245400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:17210600-17247200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr21:17211000-17245400	Weak transcription	Fetal Intestine Small	intestine
27	chr21:17211000-17246600	Weak transcription	Colon Smooth Muscle	Colon
28	chr21:17214200-17245400	Weak transcription	Gastric	stomach
29	chr21:17215000-17240600	Weak transcription	Fetal Muscle Leg	muscle
30	chr21:17215000-17240600	Weak transcription	HSMMtube	muscle
31	chr21:17215000-17245200	Weak transcription	Fetal Kidney	kidney
32	chr21:17215000-17245400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr21:17215200-17241000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr21:17215200-17245400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr21:17215600-17241200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr21:17215600-17252200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr21:17221000-17252800	Weak transcription	Thymus	Thymus
38	chr21:17222000-17246600	Weak transcription	HMEC	breast
39	chr21:17222200-17252600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:17223000-17257200	Weak transcription	NHLF	lung
41	chr21:17223400-17246800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr21:17223600-17246600	Weak transcription	Osteobl	bone
43	chr21:17223600-17264400	Weak transcription	NHEK	skin
44	chr21:17224800-17239800	Weak transcription	Hela-S3	cervix
45	chr21:17224800-17244200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr21:17225200-17252800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr21:17227200-17240200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:17228200-17240000	Weak transcription	Fetal Lung	lung
49	chr21:17228200-17245800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr21:17228200-17246800	Weak transcription	NHDF-Ad	bronchial

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