Variant report

Variant	rs7176505
Chromosome Location	chr15:41581624-41581625
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41581502..41583044-chr15:41584915..41586594,2	K562	blood:
2	chr15:41579631..41582972-chr15:41599254..41603170,4	K562	blood:
3	chr15:41581131..41583433-chr15:41618949..41620567,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10152497	0.82[ASN][1000 genomes]
rs10152702	0.82[ASN][1000 genomes]
rs10153010	0.82[ASN][1000 genomes]
rs10467974	0.83[ASN][1000 genomes]
rs10518718	0.87[ASN][1000 genomes]
rs11549913	0.88[ASN][1000 genomes]
rs11630191	0.81[EUR][1000 genomes]
rs11633799	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11852609	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11857631	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12324291	0.84[ASN][1000 genomes]
rs16971767	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16971798	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2015781	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28393472	0.82[ASN][1000 genomes]
rs28526381	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28578057	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28583065	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28600680	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28643296	0.88[ASN][1000 genomes]
rs28716108	0.87[ASN][1000 genomes]
rs28792672	0.83[ASN][1000 genomes]
rs3743038	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55782852	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58335029	0.84[ASN][1000 genomes]
rs58910172	0.88[ASN][1000 genomes]
rs59590312	0.83[ASN][1000 genomes]
rs61037359	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61127691	0.88[ASN][1000 genomes]
rs6650519	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66538814	0.86[ASN][1000 genomes]
rs7161772	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7163649	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7163788	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7165675	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7167498	0.90[ASN][1000 genomes]
rs7167729	0.81[ASN][1000 genomes]
rs7168177	0.80[EUR][1000 genomes]
rs7175690	0.88[ASN][1000 genomes]
rs7175800	0.88[ASN][1000 genomes]
rs7176314	0.88[ASN][1000 genomes]
rs7176588	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7181560	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7181911	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7182667	0.87[ASN][1000 genomes]
rs7183337	0.84[ASN][1000 genomes]
rs73404980	0.87[ASN][1000 genomes]
rs73404987	0.87[ASN][1000 genomes]
rs73404994	0.82[ASN][1000 genomes]
rs73404995	0.82[ASN][1000 genomes]
rs73404996	0.82[ASN][1000 genomes]
rs73407109	0.82[ASN][1000 genomes]
rs8023619	0.92[ASN][1000 genomes]
rs8026197	0.81[ASN][1000 genomes]
rs8027626	0.81[ASN][1000 genomes]
rs8032838	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8034626	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8036498	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8037824	0.81[EUR][1000 genomes]
rs919961	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9302109	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9972288	0.83[ASN][1000 genomes]
rs9972547	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045455	chr15:41536624-41620534	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1044438	chr15:41560160-41745480	Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	esv3353891	chr15:41581060-41583108	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs7176505	OIP5-AS1	cis	Artery Tibial	GTEx
rs7176505	KRTAP4-7	Cis_1M	lymphoblastoid	RTeQTL
rs7176505	NDUFAF1	cis	Muscle Skeletal	GTEx
rs7176505	OIP5-AS1	cis	Adipose Subcutaneous	GTEx
rs7176505	NDUFAF1	cis	Thyroid	GTEx
rs7176505	OIP5-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs7176505	NDUFAF1	Cis_1M	lymphoblastoid	RTeQTL
rs7176505	OIP5-AS1	cis	Esophagus Muscularis	GTEx
rs7176505	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs7176505	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs7176505	LOC729082	Cis_1M	lymphoblastoid	RTeQTL
rs7176505	OIP5-AS1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41577000-41582400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:41577400-41584600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:41577400-41610600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:41577600-41606400	Weak transcription	Stomach Mucosa	stomach
5	chr15:41577800-41581800	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr15:41577800-41583600	Weak transcription	Aorta	Aorta
7	chr15:41577800-41583800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:41577800-41589000	Weak transcription	Esophagus	oesophagus
9	chr15:41577800-41591600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr15:41578000-41582400	Genic enhancers	Liver	Liver
11	chr15:41578000-41584000	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr15:41578000-41584000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:41578000-41584600	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr15:41578000-41584600	Strong transcription	Fetal Intestine Large	intestine
15	chr15:41578000-41588400	Weak transcription	Right Atrium	heart
16	chr15:41578000-41591600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:41578200-41581800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:41578200-41581800	Strong transcription	NHEK	skin
19	chr15:41578200-41582200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr15:41578200-41591800	Strong transcription	Fetal Stomach	stomach
21	chr15:41578200-41592600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr15:41578400-41592600	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr15:41578800-41582400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:41578800-41584400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:41578800-41587800	Strong transcription	Fetal Muscle Leg	muscle
26	chr15:41578800-41591800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:41579000-41581800	Genic enhancers	A549	lung
28	chr15:41579200-41581800	Strong transcription	HSMM	muscle
29	chr15:41579200-41584800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr15:41579200-41584800	Strong transcription	K562	blood
31	chr15:41579200-41593200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:41579200-41612400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:41579400-41581800	Strong transcription	Thymus	Thymus
34	chr15:41579800-41581800	Genic enhancers	Left Ventricle	heart
35	chr15:41580000-41581800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr15:41580000-41581800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr15:41580000-41592600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:41580400-41581800	Genic enhancers	Duodenum Mucosa	Duodenum
39	chr15:41580600-41583200	Strong transcription	Fetal Thymus	thymus
40	chr15:41580600-41584800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr15:41580600-41603200	Weak transcription	Psoas Muscle	Psoas
42	chr15:41580800-41584000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:41581000-41581800	Genic enhancers	Fetal Intestine Small	intestine
44	chr15:41581000-41582000	Strong transcription	Primary B cells from peripheral blood	blood
45	chr15:41581000-41586400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:41581000-41588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr15:41581000-41590000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:41581000-41593200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr15:41581200-41581800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:41581200-41581800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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