Variant report

Variant	rs225293
Chromosome Location	chr17:33925906-33925907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:33923692-33926254	A549	lung:	n/a	n/a
2	POLR2A	chr17:33923083-33926653	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33925741..33928491-chr17:33933489..33935546,3	K562	blood:

Variant related genes	Relation type
ENSG00000267592	TF binding region
ENSG00000006125	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1049379	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12150359	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1476553	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs161182	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs161183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs161184	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1634684	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs167691	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs178649	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2124246	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2124247	0.84[ASN][1000 genomes]
rs225245	0.85[EUR][1000 genomes]
rs225255	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs225269	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225272	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225273	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225281	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs225282	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs225284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225290	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225299	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225302	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226428	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs226432	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs226441	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2285742	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2301730	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs321596	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs321599	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs321601	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs321607	0.83[ASN][1000 genomes]
rs321608	0.83[ASN][1000 genomes]
rs321617	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs321618	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890901	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4796103	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6505489	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6505490	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6505491	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6505492	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6505493	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71366475	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs720774	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7217565	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7221081	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7221096	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7406966	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8064556	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8067294	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8073375	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8078905	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9635770	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs225293	AP2B1	cis	Muscle Skeletal	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33915200-33930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:33915200-33932600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
4	chr17:33916000-33942000	Weak transcription	Right Atrium	heart
5	chr17:33916400-33944800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr17:33916800-33945400	Weak transcription	Stomach Mucosa	stomach
7	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr17:33917600-33934600	Weak transcription	Brain Angular Gyrus	brain
9	chr17:33919400-33940000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:33919600-33931000	Strong transcription	K562	blood
11	chr17:33920000-33937400	Strong transcription	A549	lung
12	chr17:33920400-33936400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr17:33920600-33926600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:33920600-33939800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr17:33920600-33939800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr17:33920600-33939800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:33920600-33940000	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr17:33920600-33940200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr17:33920600-33942200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:33920600-33942800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr17:33920600-33944000	Strong transcription	Dnd41	blood
22	chr17:33920600-33969800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:33920800-33926200	Strong transcription	Primary B cells from cord blood	blood
24	chr17:33920800-33931000	Strong transcription	GM12878-XiMat	blood
25	chr17:33920800-33931000	Strong transcription	Osteobl	bone
26	chr17:33920800-33938400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr17:33921000-33926600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr17:33921000-33926800	Strong transcription	HMEC	breast
30	chr17:33921000-33930600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr17:33921000-33930800	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr17:33921000-33930800	Strong transcription	NH-A	brain
33	chr17:33921000-33931400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr17:33921000-33931600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr17:33921000-33932000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:33921000-33937200	Strong transcription	Placenta	Placenta
37	chr17:33921000-33939800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr17:33921000-33939800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr17:33921000-33940400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:33921000-33941400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:33921000-33942200	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr17:33921000-33943000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr17:33921000-33946200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr17:33921000-33946600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:33921200-33926400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr17:33921200-33929200	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr17:33921200-33929200	Strong transcription	Stomach Smooth Muscle	stomach
49	chr17:33921200-33929800	Strong transcription	NHDF-Ad	bronchial
50	chr17:33921200-33931000	Strong transcription	HUVEC	blood vessel

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