Variant report

Variant	rs1972503
Chromosome Location	chr17:16039912-16039913
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16039156..16040813-chr17:16042197..16044363,3	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10451230	0.83[EUR][1000 genomes]
rs1079533	0.80[EUR][1000 genomes]
rs10852833	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078328	0.80[EUR][1000 genomes]
rs11078330	0.82[EUR][1000 genomes]
rs11078332	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11078333	0.80[AMR][1000 genomes]
rs1125156	0.83[EUR][1000 genomes]
rs1126148	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1160109	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650678	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651290	0.80[EUR][1000 genomes]
rs11655773	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657912	0.80[EUR][1000 genomes]
rs11658564	0.80[EUR][1000 genomes]
rs11870608	0.80[EUR][1000 genomes]
rs11871961	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11872032	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12150017	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12449895	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12937088	0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs12939418	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12942295	0.81[EUR][1000 genomes]
rs12945546	0.80[EUR][1000 genomes]
rs12947205	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs178657	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178658	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs178659	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178662	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs178789	0.85[AMR][1000 genomes]
rs178790	0.87[AMR][1000 genomes]
rs178791	0.92[AMR][1000 genomes]
rs178792	0.92[AMR][1000 genomes]
rs178793	0.91[AMR][1000 genomes]
rs178794	0.84[AMR][1000 genomes]
rs178795	0.89[AMR][1000 genomes]
rs178796	0.92[AMR][1000 genomes]
rs178797	0.86[AMR][1000 genomes]
rs178798	0.93[AMR][1000 genomes]
rs178799	0.86[AMR][1000 genomes]
rs178800	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs178801	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs178802	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs178804	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs178805	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs178806	0.80[AMR][1000 genomes]
rs178809	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs178816	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs178817	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs178820	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs178829	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs178830	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs178834	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs178837	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1989856	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2051736	0.83[EUR][1000 genomes]
rs21180	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2285579	0.83[EUR][1000 genomes]
rs2324141	0.83[EUR][1000 genomes]
rs2324142	0.83[EUR][1000 genomes]
rs2875265	0.83[EUR][1000 genomes]
rs34243080	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34351630	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35160872	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35799415	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36001065	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3760293	0.83[EUR][1000 genomes]
rs3815038	0.81[EUR][1000 genomes]
rs3815039	0.80[EUR][1000 genomes]
rs4791661	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791662	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4792719	0.80[EUR][1000 genomes]
rs545738	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6502491	0.83[EUR][1000 genomes]
rs7207889	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7216834	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72833498	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8076864	0.80[EUR][1000 genomes]
rs8079969	0.83[EUR][1000 genomes]
rs8080706	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9652828	0.80[EUR][1000 genomes]
rs9891379	0.81[EUR][1000 genomes]
rs9891646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9897388	0.83[EUR][1000 genomes]
rs9898313	0.82[EUR][1000 genomes]
rs9902141	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9903464	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9905429	0.82[EUR][1000 genomes]
rs9907313	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9908591	0.83[EUR][1000 genomes]
rs9909697	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
5	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
7	nsv1062220	chr17:15869557-16093156	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1055173	chr17:15875935-16097241	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv1056157	chr17:15890584-16088473	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv833377	chr17:15912013-16104515	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv522169	chr17:15923709-16147821	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv907711	chr17:15978663-16092902	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv907712	chr17:15981874-16103426	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv907713	chr17:15981874-16127206	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	nsv907714	chr17:15990013-16110384	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs1972503	ADORA2B	cis	lung	GTEx
rs1972503	ADORA2B	cis	Muscle Skeletal	GTEx
rs1972503	ZSWIM7	cis	Muscle Skeletal	GTEx
rs1972503	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs1972503	ADORA2B	cis	Thyroid	GTEx
rs1972503	ADORA2B	cis	Artery Tibial	GTEx
rs1972503	CENPV	cis	Artery Tibial	GTEx
rs1972503	ADORA2B	cis	Esophagus Muscularis	GTEx
rs1972503	ADORA2B	cis	Adipose Subcutaneous	GTEx
rs1972503	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs1972503	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs1972503	ADORA2B	cis	Nerve Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15999400-16052400	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr17:15999800-16047600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:16006600-16064200	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr17:16015600-16077600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:16015800-16064400	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr17:16016400-16064200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr17:16016800-16048800	Strong transcription	Adipose Nuclei	Adipose
8	chr17:16017200-16064200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:16018600-16054600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr17:16019400-16040200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:16019400-16070400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr17:16019600-16042200	Strong transcription	Primary B cells from cord blood	blood
13	chr17:16019800-16056800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:16020200-16042600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr17:16020200-16064200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr17:16020400-16044000	Strong transcription	Dnd41	blood
17	chr17:16020400-16056000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr17:16020800-16051400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:16021400-16042800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr17:16021600-16049800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr17:16021800-16087600	Weak transcription	Fetal Brain Male	brain
22	chr17:16022200-16058400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr17:16025400-16046600	Weak transcription	Aorta	Aorta
24	chr17:16027200-16048600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:16028400-16048800	Strong transcription	Placenta	Placenta
26	chr17:16031000-16056000	Strong transcription	Fetal Thymus	thymus
27	chr17:16031200-16040400	Strong transcription	Primary T cells from cord blood	blood
28	chr17:16031200-16042200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:16031600-16046400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:16031800-16056800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:16032800-16042400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:16032800-16058400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:16033000-16058000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr17:16033200-16046200	Weak transcription	Fetal Heart	heart
35	chr17:16033200-16055400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr17:16033600-16042200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr17:16033600-16044000	Weak transcription	Small Intestine	intestine
38	chr17:16034800-16041000	Strong transcription	Liver	Liver
39	chr17:16034800-16042200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr17:16034800-16042200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr17:16034800-16058600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr17:16034800-16061800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr17:16035000-16042600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr17:16035000-16047400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr17:16035200-16040000	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr17:16035400-16064600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr17:16035800-16041200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr17:16035800-16103400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr17:16036200-16040000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr17:16036400-16040000	Strong transcription	Fetal Muscle Leg	muscle

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