Variant report

Variant	rs161183
Chromosome Location	chr17:33919475-33919476
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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
ENSG00000108733	Chromatin interaction
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[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12150359	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1476553	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs161182	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs161184	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1634684	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	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs225269	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225272	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225273	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs225281	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs225282	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs225284	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225290	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225299	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs225302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs226428	0.84[EUR][1000 genomes]
rs226432	0.84[AFR][1000 genomes];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	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2301730	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	0.81[AFR][1000 genomes];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	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs321618	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3890901	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4796103	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6505489	0.83[AFR][1000 genomes];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	0.84[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	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71366475	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs720774	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7217565	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7221081	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7221096	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	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8067294	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8073375	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	0.83[AFR][1000 genomes];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
rs161183	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	chr17:33915000-33922000	Weak transcription	Spleen	Spleen
2	chr17:33915000-33923600	Weak transcription	Gastric	stomach
3	chr17:33915200-33921800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:33915200-33923400	Weak transcription	Colonic Mucosa	Colon
5	chr17:33915200-33923600	Weak transcription	Esophagus	oesophagus
6	chr17:33915200-33923600	Weak transcription	Pancreas	Pancrea
7	chr17:33915200-33930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:33915200-33932600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr17:33915400-33923600	Weak transcription	Aorta	Aorta
10	chr17:33915600-33920600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr17:33915600-33920800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr17:33915600-33921000	Weak transcription	Placenta	Placenta
13	chr17:33915600-33921200	Weak transcription	Fetal Thymus	thymus
14	chr17:33915600-33921800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr17:33915600-33922200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:33915600-33923600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
18	chr17:33915800-33921000	Weak transcription	HSMMtube	muscle
19	chr17:33915800-33921200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr17:33915800-33921800	Weak transcription	Thymus	Thymus
21	chr17:33915800-33922000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr17:33915800-33922000	Weak transcription	Fetal Muscle Leg	muscle
23	chr17:33915800-33923600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:33915800-33923600	Weak transcription	Right Ventricle	heart
25	chr17:33916000-33920600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr17:33916000-33920600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr17:33916000-33921800	Weak transcription	Psoas Muscle	Psoas
28	chr17:33916000-33923800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr17:33916000-33942000	Weak transcription	Right Atrium	heart
30	chr17:33916400-33920800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr17:33916400-33924200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr17:33916400-33944800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr17:33916600-33920600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr17:33916600-33920800	Weak transcription	Primary B cells from cord blood	blood
35	chr17:33916600-33920800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:33916600-33921200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr17:33916600-33921200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr17:33916600-33921600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:33916600-33921600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr17:33916600-33922000	Weak transcription	Brain Hippocampus Middle	brain
41	chr17:33916600-33923800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr17:33916800-33920600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr17:33916800-33920600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr17:33916800-33920600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr17:33916800-33920800	Weak transcription	Osteobl	bone
46	chr17:33916800-33921000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:33916800-33921000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr17:33916800-33921000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr17:33916800-33921000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:33916800-33921000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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