Variant report

Variant	rs226432
Chromosome Location	chr17:34043825-34043826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34037578..34041296-chr17:34042610..34046006,5	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1049379	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12150359	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12949341	0.82[ASN][1000 genomes]
rs1476553	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs161182	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs161183	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs161184	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1634684	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs170483	0.84[ASN][1000 genomes]
rs178649	0.84[EUR][1000 genomes]
rs225255	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs225269	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs225272	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs225273	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs225281	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs225282	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs225284	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs225290	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs225293	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs225297	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs225299	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs225302	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs226085	0.83[ASN][1000 genomes]
rs226086	0.82[ASN][1000 genomes]
rs226088	0.82[ASN][1000 genomes]
rs226428	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs226434	0.84[ASN][1000 genomes]
rs226439	0.84[ASN][1000 genomes]
rs226441	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285742	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2301730	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs321599	0.85[EUR][1000 genomes]
rs321601	0.80[EUR][1000 genomes]
rs321617	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs321618	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3890901	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4795085	0.83[EUR][1000 genomes]
rs4796103	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6505489	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6505490	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6505491	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6505492	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6505493	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67296463	0.83[ASN][1000 genomes]
rs71366475	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs720774	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7217565	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7221081	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7221096	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7406966	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8064556	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8067294	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8073375	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8078905	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9635770	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908080	chr17:34027964-34054044	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs226432	AP2B1	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:34018800-34050600	Weak transcription	Esophagus	oesophagus
3	chr17:34019000-34044000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:34023200-34044000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:34023200-34051600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr17:34023400-34044200	Weak transcription	Brain Germinal Matrix	brain
7	chr17:34024200-34056200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:34026600-34050200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr17:34032600-34055800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr17:34034800-34053400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr17:34034800-34055600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr17:34035400-34056200	Strong transcription	A549	lung
13	chr17:34035800-34053000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:34036000-34045800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr17:34036000-34047400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr17:34036000-34049000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr17:34036000-34055600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:34036200-34044000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:34036400-34052200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr17:34036600-34055800	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr17:34036800-34054800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr17:34037000-34047400	Strong transcription	Primary B cells from cord blood	blood
23	chr17:34037000-34053000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr17:34037200-34044000	Weak transcription	Colon Smooth Muscle	Colon
25	chr17:34037200-34044800	Strong transcription	HMEC	breast
26	chr17:34038000-34044000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:34039400-34044200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr17:34039800-34045200	Strong transcription	GM12878-XiMat	blood
29	chr17:34039800-34045800	Genic enhancers	Adipose Nuclei	Adipose
30	chr17:34040000-34052800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr17:34040200-34055000	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr17:34040400-34044200	Weak transcription	Left Ventricle	heart
33	chr17:34040400-34044600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr17:34040400-34047200	Weak transcription	Hela-S3	cervix
35	chr17:34040400-34049200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:34040400-34054400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr17:34040600-34044000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr17:34040600-34044400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:34040600-34044800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr17:34040600-34044800	Strong transcription	Fetal Intestine Large	intestine
41	chr17:34040600-34045400	Strong transcription	Primary hematopoietic stem cells	blood
42	chr17:34040600-34050800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:34040600-34054800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr17:34040600-34055200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:34040600-34055600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr17:34040800-34047000	Weak transcription	Fetal Intestine Small	intestine
47	chr17:34040800-34047200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr17:34040800-34047600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr17:34040800-34050200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:34040800-34050600	Weak transcription	Stomach Mucosa	stomach

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