Variant report

Variant	rs225273
Chromosome Location	chr17:33970935-33970936
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33958136..33960077-chr17:33969151..33971266,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1049379	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12150359	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1476553	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs161182	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs161183	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs161184	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1634684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs178649	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225245	0.89[CEU][hapmap];0.83[EUR][1000 genomes]
rs225255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs225269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225281	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs225282	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs225284	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225290	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225293	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225299	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225302	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs226088	0.91[CHB][hapmap];0.95[JPT][hapmap]
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];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs226432	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs226434	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs226439	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs226441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2285742	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2301730	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs321596	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs321599	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs321601	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs321616	0.85[CEU][hapmap]
rs321617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs321618	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3890901	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4795085	0.82[EUR][1000 genomes]
rs4796103	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6505489	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6505490	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6505491	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6505492	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6505493	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71366475	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs720774	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7217565	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7221081	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7221096	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7406966	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8064556	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8067294	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8073375	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8078905	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9635770	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1062793	chr17:33944732-33976685	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs225273	AP2B1	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
6	chr17:33948400-33973400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr17:33948600-33973600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr17:33948800-34010600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr17:33949000-33986400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr17:33949200-34001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr17:33950600-33973400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:33950800-33973400	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr17:33950800-33975400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr17:33950800-33975800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:33950800-33978800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:33951200-33971800	Strong transcription	Primary hematopoietic stem cells	blood
17	chr17:33951400-33973400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr17:33951400-33973600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr17:33954200-33982000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr17:33954600-34001800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr17:33954600-34006000	Weak transcription	Stomach Mucosa	stomach
22	chr17:33957800-33972600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr17:33958200-33981000	Strong transcription	A549	lung
24	chr17:33958200-33983000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr17:33958200-33992400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:33958200-33992400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:33959200-33978600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:33959400-33971400	Strong transcription	Osteobl	bone
29	chr17:33959600-33972600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr17:33960000-33973400	Strong transcription	K562	blood
31	chr17:33960000-33973800	Strong transcription	Primary B cells from cord blood	blood
32	chr17:33960000-34024600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr17:33960200-33973400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr17:33960200-33987600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr17:33960400-33972200	Strong transcription	Liver	Liver
36	chr17:33960400-33972800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr17:33960400-33975800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr17:33961000-33975400	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr17:33961200-33971200	Strong transcription	Brain Germinal Matrix	brain
40	chr17:33961200-33972600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr17:33961200-33973400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr17:33961200-33973400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr17:33961200-33973400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr17:33961200-33975600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr17:33961600-33971000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr17:33961600-33971200	Strong transcription	NH-A	brain
47	chr17:33961800-33971400	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr17:33961800-33972400	Strong transcription	Dnd41	blood
49	chr17:33961800-33973400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr17:33961800-33973600	Strong transcription	Adipose Nuclei	Adipose

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