Variant report

Variant	rs2285742
Chromosome Location	chr17:34018682-34018683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1049379	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12150359	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12949341	0.86[ASN][1000 genomes]
rs1476553	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs161182	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs161183	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs161184	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1634684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs170483	0.84[ASN][1000 genomes]
rs178649	0.86[EUR][1000 genomes]
rs225245	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs225255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs225269	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs225272	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs225273	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs225281	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs225282	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs225284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs225290	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs225293	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs225297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs225299	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs225302	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs226085	0.84[ASN][1000 genomes]
rs226086	0.86[ASN][1000 genomes]
rs226088	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs226426	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs226428	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs226432	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs226434	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs226439	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs226441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301730	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs321596	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs321599	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs321601	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes]
rs321616	0.85[CEU][hapmap]
rs321617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs321618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3890901	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4795085	0.85[EUR][1000 genomes]
rs4796103	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6505489	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6505490	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6505491	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6505492	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6505493	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67296463	0.84[ASN][1000 genomes]
rs71366475	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs720774	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7217565	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7221081	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7221096	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7406966	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8064556	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8067294	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8073375	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8078905	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9635770	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[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	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2285742	AP2B1	cis	Muscle Skeletal	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:33960000-34024600	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:33975000-34025800	Strong transcription	Primary B cells from peripheral blood	blood
6	chr17:33992800-34028200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:33995800-34024600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:33997400-34023200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:33997600-34024600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr17:33999400-34043400	Weak transcription	Fetal Brain Male	brain
11	chr17:34002000-34032200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr17:34002000-34036800	Weak transcription	Colonic Mucosa	Colon
13	chr17:34005400-34024400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:34005400-34028400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr17:34005600-34018800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr17:34005600-34024400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr17:34005800-34026600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr17:34006000-34024400	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr17:34006200-34018800	Strong transcription	Fetal Muscle Leg	muscle
20	chr17:34006200-34018800	Strong transcription	Dnd41	blood
21	chr17:34006400-34018800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr17:34006400-34019000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:34006400-34024200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:34006600-34018800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr17:34006600-34019000	Strong transcription	Fetal Intestine Large	intestine
26	chr17:34006600-34032800	Weak transcription	Stomach Mucosa	stomach
27	chr17:34006600-34039800	Weak transcription	Small Intestine	intestine
28	chr17:34007400-34018800	Strong transcription	Placenta	Placenta
29	chr17:34007400-34018800	Strong transcription	Thymus	Thymus
30	chr17:34007400-34019200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr17:34008000-34018800	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr17:34011000-34021800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr17:34011000-34022400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr17:34011000-34026600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr17:34011200-34019200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr17:34011200-34024400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr17:34011600-34021000	Weak transcription	Colon Smooth Muscle	Colon
38	chr17:34011800-34022400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr17:34011800-34036200	Weak transcription	Hela-S3	cervix
40	chr17:34012000-34020800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr17:34012000-34021800	Weak transcription	HSMMtube	muscle
42	chr17:34012000-34022400	Weak transcription	Psoas Muscle	Psoas
43	chr17:34012000-34024400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:34012200-34024400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:34012200-34024400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr17:34012400-34018800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr17:34012400-34019600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr17:34012400-34022200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr17:34012400-34022600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr17:34012800-34018800	Strong transcription	Liver	Liver

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