Variant report

Variant	rs720774
Chromosome Location	chr17:34017453-34017454
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:34015450..34018175-chr17:34061964..34063628,2	K562	blood:

Variant related genes	Relation type
ENSG00000141150	Chromatin interaction

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

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

rs_ID	r²[population]
rs1049379	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12150359	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12949341	0.84[ASN][1000 genomes]
rs1476553	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs161182	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs161183	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs161184	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1634684	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs170483	0.84[ASN][1000 genomes]
rs178649	0.85[EUR][1000 genomes]
rs225245	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs225255	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs225269	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs225272	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs225273	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs225281	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs225282	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs225284	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs225290	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs225293	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs225297	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs225299	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs225302	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs226085	0.86[ASN][1000 genomes]
rs226086	0.84[ASN][1000 genomes]
rs226088	0.91[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs226426	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs226428	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs226432	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs226434	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs226439	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs226441	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285742	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2301730	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs321596	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs321599	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs321601	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[EUR][1000 genomes]
rs321616	0.84[CEU][hapmap]
rs321617	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs321618	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3890901	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4795085	0.86[EUR][1000 genomes]
rs4796103	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6505489	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6505490	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6505491	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6505492	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6505493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67296463	0.86[ASN][1000 genomes]
rs71366475	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7217565	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7221081	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7221096	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7406966	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8064556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8067294	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8073375	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8078905	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9635770	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[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
rs720774	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	chr17:33999600-34018200	Weak transcription	Fetal Kidney	kidney
12	chr17:34001800-34018200	Weak transcription	Esophagus	oesophagus
13	chr17:34002000-34032200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr17:34002000-34036800	Weak transcription	Colonic Mucosa	Colon
15	chr17:34005400-34024400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr17:34005400-34028400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr17:34005600-34018800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:34005600-34024400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr17:34005800-34026600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr17:34006000-34024400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr17:34006200-34018800	Strong transcription	Fetal Muscle Leg	muscle
22	chr17:34006200-34018800	Strong transcription	Dnd41	blood
23	chr17:34006400-34018800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:34006400-34019000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr17:34006400-34024200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr17:34006600-34018800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr17:34006600-34019000	Strong transcription	Fetal Intestine Large	intestine
28	chr17:34006600-34032800	Weak transcription	Stomach Mucosa	stomach
29	chr17:34006600-34039800	Weak transcription	Small Intestine	intestine
30	chr17:34006800-34018600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr17:34007400-34018800	Strong transcription	Placenta	Placenta
32	chr17:34007400-34018800	Strong transcription	Thymus	Thymus
33	chr17:34007400-34019200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr17:34008000-34018200	Weak transcription	Pancreas	Pancrea
35	chr17:34008000-34018800	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr17:34010800-34018200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr17:34011000-34021800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:34011000-34022400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr17:34011000-34026600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr17:34011200-34019200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr17:34011200-34024400	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr17:34011600-34018200	Weak transcription	Gastric	stomach
43	chr17:34011600-34021000	Weak transcription	Colon Smooth Muscle	Colon
44	chr17:34011800-34022400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr17:34011800-34036200	Weak transcription	Hela-S3	cervix
46	chr17:34012000-34017600	Weak transcription	HepG2	liver
47	chr17:34012000-34018200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr17:34012000-34020800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr17:34012000-34021800	Weak transcription	HSMMtube	muscle
50	chr17:34012000-34022400	Weak transcription	Psoas Muscle	Psoas

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