Variant report

Variant	rs8075345
Chromosome Location	chr17:15918222-15918223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15911381..15914344-chr17:15917325..15919916,2	MCF-7	breast:
2	chr17:15910738..15912780-chr17:15917922..15919655,2	K562	blood:
3	chr17:15917993..15922048-chr17:15928334..15931723,4	MCF-7	breast:
4	chr17:15902512..15905942-chr17:15916093..15919124,5	K562	blood:
5	chr17:15918143..15920477-chr17:15921495..15924893,3	K562	blood:
6	chr17:15901865..15904758-chr17:15916069..15919403,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011295	Chromatin interaction
ENSG00000214941	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1045599	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1065822	0.80[EUR][1000 genomes]
rs1075901	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1079533	0.81[EUR][1000 genomes]
rs11078320	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11078327	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11078328	0.81[EUR][1000 genomes]
rs11078331	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11651290	0.81[EUR][1000 genomes]
rs11652025	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11654	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11655456	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11656046	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11657160	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11657912	0.81[EUR][1000 genomes]
rs11869450	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11869563	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12451075	0.82[EUR][1000 genomes]
rs12942295	0.80[EUR][1000 genomes]
rs12945463	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12945546	0.81[EUR][1000 genomes]
rs1860643	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1860644	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1860645	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2078050	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2109632	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2157990	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2157991	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2157992	0.80[EUR][1000 genomes]
rs2159643	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2285580	0.85[EUR][1000 genomes]
rs2285582	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2285583	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2286795	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2286796	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2535614	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2779207	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2779208	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2779210	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2779212	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35168566	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3760297	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3785628	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3785629	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3785631	0.81[EUR][1000 genomes]
rs3785632	0.84[EUR][1000 genomes]
rs3785633	0.82[EUR][1000 genomes]
rs3815038	0.80[EUR][1000 genomes]
rs3815039	0.81[EUR][1000 genomes]
rs3826360	0.81[EUR][1000 genomes]
rs4435297	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4792707	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4792708	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4792709	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4792712	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4792713	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4792715	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4792716	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4792717	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4792718	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4792719	0.81[EUR][1000 genomes]
rs6416868	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6502479	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6502480	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6502482	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6502488	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7207463	0.85[EUR][1000 genomes]
rs7209094	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7210655	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7214695	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7216949	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7222886	0.80[EUR][1000 genomes]
rs7223346	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8064702	0.92[EUR][1000 genomes]
rs8065190	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8070859	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8076669	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8076864	0.81[EUR][1000 genomes]
rs8080221	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8081406	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8081667	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9652827	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9652828	0.81[EUR][1000 genomes]
rs9709250	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9889822	0.81[EUR][1000 genomes]
rs9890012	0.81[EUR][1000 genomes]
rs9891379	0.80[EUR][1000 genomes]
rs9891938	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9896441	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9897542	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9899002	0.82[EUR][1000 genomes]
rs9899995	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9907273	0.80[EUR][1000 genomes]
rs9908031	0.81[EUR][1000 genomes]
rs9909615	0.81[EUR][1000 genomes]
rs9916868	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	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
7	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	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
9	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv907709	chr17:15851196-15937487	Weak transcription Genic enhancers Strong transcription Active TSS 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	28 gene(s)	inside rSNPs	diseases
11	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats 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	30 gene(s)	inside rSNPs	diseases
12	nsv1057493	chr17:15852125-15930718	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv543215	chr17:15852125-15930718	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	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

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs8075345	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs8075345	ADORA2B	cis	lung	GTEx
rs8075345	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs8075345	ADORA2B	cis	Esophagus Muscularis	GTEx
rs8075345	ZSWIM7	cis	Muscle Skeletal	GTEx
rs8075345	ADORA2B	cis	Adipose Subcutaneous	GTEx
rs8075345	ADORA2B	cis	Artery Tibial	GTEx
rs8075345	ADORA2B	cis	Nerve Tibial	GTEx
rs8075345	CENPV	cis	Artery Tibial	GTEx
rs8075345	ADORA2B	cis	Muscle Skeletal	GTEx
rs8075345	ADORA2B	cis	Heart Left Ventricle	GTEx
rs8075345	ADORA2B	cis	Thyroid	GTEx
rs8075345	NCOR1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15905000-15939600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr17:15905000-15946400	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr17:15905200-15918600	Strong transcription	Primary B cells from peripheral blood	blood
4	chr17:15905200-15919400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr17:15905200-15923200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:15905200-15986400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr17:15905400-15919800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:15905400-15931000	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr17:15905400-15946600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr17:15905600-15922600	Weak transcription	Fetal Heart	heart
11	chr17:15906400-15926400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:15906400-15939400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:15906600-15919000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr17:15907800-15935600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:15909000-15919800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr17:15909000-15928000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:15909000-15928200	Weak transcription	Gastric	stomach
18	chr17:15909000-15929800	Weak transcription	Esophagus	oesophagus
19	chr17:15911000-15928200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr17:15911400-15924800	Weak transcription	Small Intestine	intestine
21	chr17:15912000-15925400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr17:15912000-15929800	Weak transcription	Pancreas	Pancrea
23	chr17:15912200-15921800	Weak transcription	Brain Substantia Nigra	brain
24	chr17:15912200-15921800	Weak transcription	Lung	lung
25	chr17:15912200-15924000	Weak transcription	Aorta	Aorta
26	chr17:15912200-15928200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:15912200-15928200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:15912200-15928200	Weak transcription	Colonic Mucosa	Colon
29	chr17:15912200-15928200	Weak transcription	Spleen	Spleen
30	chr17:15912200-15928800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr17:15912600-15919200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr17:15912600-15922000	Weak transcription	HSMMtube	muscle
33	chr17:15912600-15922400	Weak transcription	Right Ventricle	heart
34	chr17:15912600-15922800	Weak transcription	Psoas Muscle	Psoas
35	chr17:15912600-15922800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr17:15912600-15928200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr17:15912600-15928200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr17:15912600-15928200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr17:15913800-15990800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr17:15914000-15918600	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr17:15914000-15918600	Genic enhancers	HUVEC	blood vessel
42	chr17:15914200-15918800	Strong transcription	Fetal Thymus	thymus
43	chr17:15914200-15918800	Strong transcription	Dnd41	blood
44	chr17:15914200-15926000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr17:15914400-15918600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr17:15914400-15918600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr17:15914400-15922800	Weak transcription	Brain Anterior Caudate	brain
48	chr17:15914400-15926200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr17:15914800-15919400	Strong transcription	Placenta	Placenta
50	chr17:15915000-15918400	Strong transcription	Primary monocytes fromperipheralblood	blood

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