Variant report

Variant	rs178649
Chromosome Location	chr17:33908197-33908198
allele	C/G
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	chr17:33907938-33908229	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:33903370..33909494-chr17:33910892..33920548,27	MCF-7	breast:

Variant related genes	Relation type
PEX12	TF binding region
ENSG00000006125	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1049379	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12150359	0.85[EUR][1000 genomes]
rs1476553	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs161182	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs161183	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs161184	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1634684	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs167691	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2124246	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2124247	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs225255	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs225269	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225272	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225273	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs225281	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs225282	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs225284	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs225290	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs225293	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs225297	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs225299	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs225302	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs226432	0.84[EUR][1000 genomes]
rs226441	0.85[EUR][1000 genomes]
rs2285742	0.86[EUR][1000 genomes]
rs2301730	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs321596	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs321599	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs321601	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs321607	0.86[ASN][1000 genomes]
rs321608	0.86[ASN][1000 genomes]
rs321616	0.81[EUR][1000 genomes]
rs321617	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs321618	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3890901	0.85[EUR][1000 genomes]
rs4796103	0.85[EUR][1000 genomes]
rs6505489	0.85[EUR][1000 genomes]
rs6505490	0.83[EUR][1000 genomes]
rs6505491	0.85[EUR][1000 genomes]
rs6505492	0.85[EUR][1000 genomes]
rs6505493	0.85[EUR][1000 genomes]
rs71366475	0.83[EUR][1000 genomes]
rs720774	0.85[EUR][1000 genomes]
rs7217565	0.83[EUR][1000 genomes]
rs7221081	0.85[EUR][1000 genomes]
rs7221096	0.84[EUR][1000 genomes]
rs7406966	0.85[EUR][1000 genomes]
rs8064556	0.85[EUR][1000 genomes]
rs8067294	0.85[EUR][1000 genomes]
rs8073375	0.84[EUR][1000 genomes]
rs8078905	0.81[EUR][1000 genomes]
rs9635770	0.84[EUR][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	esv3392862	chr17:33907589-33909537	Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs178649	AP2B1	cis	Muscle Skeletal	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33906400-33913800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:33906400-33913800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:33906600-33910600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr17:33906600-33911000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:33906600-33913400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr17:33906600-33913400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:33906600-33913400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr17:33906600-33913400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr17:33906600-33913400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:33906600-33913400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr17:33906600-33913400	Weak transcription	Liver	Liver
12	chr17:33906600-33913400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr17:33906600-33913400	Weak transcription	NHEK	skin
14	chr17:33906600-33913800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr17:33906600-33914000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:33906800-33910600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr17:33906800-33911000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:33906800-33913600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr17:33907200-33913600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr17:33907200-33913800	Weak transcription	HepG2	liver
21	chr17:33907400-33911400	Weak transcription	K562	blood

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