Variant report

Variant	rs8034626
Chromosome Location	chr15:41612894-41612895
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41605347..41607795-chr15:41612892..41615353,2	K562	blood:
2	chr15:41601722..41603239-chr15:41610507..41613182,2	K562	blood:
3	chr15:41612185..41616768-chr15:41623062..41627065,8	K562	blood:
4	chr15:41601722..41604409-chr15:41611682..41614263,2	K562	blood:

Variant related genes	Relation type
ENSG00000104147	Chromatin interaction
ENSG00000137804	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10152497	0.87[ASN][1000 genomes]
rs10153010	0.87[ASN][1000 genomes]
rs10467974	0.88[ASN][1000 genomes]
rs10518718	0.92[ASN][1000 genomes]
rs11549913	0.83[ASN][1000 genomes]
rs11630191	0.85[ASN][1000 genomes]
rs11631770	0.83[ASN][1000 genomes]
rs11633799	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11852609	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11857631	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12324291	0.90[ASN][1000 genomes]
rs16971767	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16971798	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16971806	0.82[ASN][1000 genomes]
rs2015781	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2777491	0.83[ASN][1000 genomes]
rs28393472	0.87[ASN][1000 genomes]
rs28526381	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28578057	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28583065	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28600680	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs28643296	0.93[ASN][1000 genomes]
rs28716108	0.92[ASN][1000 genomes]
rs28792672	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs316609	0.84[ASN][1000 genomes]
rs316613	0.81[ASN][1000 genomes]
rs316614	0.81[ASN][1000 genomes]
rs35826725	0.81[ASN][1000 genomes]
rs3743038	0.91[ASN][1000 genomes]
rs55782852	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58335029	0.90[ASN][1000 genomes]
rs58910172	0.93[ASN][1000 genomes]
rs59590312	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61037359	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61127691	0.93[ASN][1000 genomes]
rs6650519	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66538814	0.91[ASN][1000 genomes]
rs7161772	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7163649	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7163788	0.86[ASN][1000 genomes]
rs7165675	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7167498	0.92[ASN][1000 genomes]
rs7167729	0.86[ASN][1000 genomes]
rs7168177	0.85[ASN][1000 genomes]
rs7172148	0.81[ASN][1000 genomes]
rs7175690	0.93[ASN][1000 genomes]
rs7175800	0.93[ASN][1000 genomes]
rs7176314	0.93[ASN][1000 genomes]
rs7176505	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7176588	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7177641	0.83[ASN][1000 genomes]
rs7181560	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7181911	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7182667	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7182700	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7183337	0.90[ASN][1000 genomes]
rs73404980	0.87[ASN][1000 genomes]
rs73404987	0.92[ASN][1000 genomes]
rs73404994	0.87[ASN][1000 genomes]
rs73404995	0.87[ASN][1000 genomes]
rs73404996	0.87[ASN][1000 genomes]
rs73405000	0.84[ASN][1000 genomes]
rs73405001	0.84[ASN][1000 genomes]
rs73407109	0.87[ASN][1000 genomes]
rs8023619	0.90[ASN][1000 genomes]
rs8026197	0.86[ASN][1000 genomes]
rs8027626	0.86[ASN][1000 genomes]
rs8032838	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8034819	0.81[ASN][1000 genomes]
rs8036498	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8037824	0.85[ASN][1000 genomes]
rs919961	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9302109	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9672866	0.83[ASN][1000 genomes]
rs9972288	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9972547	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1038923	chr15:41585028-41754890	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv1045142	chr15:41585044-41738314	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	esv14767	chr15:41595813-41619355	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv977843	chr15:41608625-41625613	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs8034626	OIP5-AS1	cis	Adipose Subcutaneous	GTEx
rs8034626	NDUFAF1	cis	Esophagus Muscularis	GTEx
rs8034626	NDUFAF1	cis	Heart Left Ventricle	GTEx
rs8034626	OIP5-AS1	cis	Artery Tibial	GTEx
rs8034626	NDUFAF1	cis	Muscle Skeletal	GTEx
rs8034626	OIP5-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs8034626	OIP5-AS1	cis	Nerve Tibial	GTEx
rs8034626	OIP5-AS1	cis	Esophagus Muscularis	GTEx
rs8034626	NDUFAF1	cis	Thyroid	GTEx
rs8034626	NDUFAF1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41581200-41623600	Weak transcription	Fetal Brain Male	brain
2	chr15:41581600-41623600	Weak transcription	Fetal Kidney	kidney
3	chr15:41583200-41623600	Weak transcription	HSMM	muscle
4	chr15:41583800-41613000	Weak transcription	Right Ventricle	heart
5	chr15:41585600-41623600	Weak transcription	Primary B cells from cord blood	blood
6	chr15:41587600-41623000	Weak transcription	NHEK	skin
7	chr15:41589600-41624000	Weak transcription	Esophagus	oesophagus
8	chr15:41590200-41623600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:41590600-41623000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr15:41590800-41623000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr15:41591200-41623800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:41591200-41624000	Weak transcription	HSMMtube	muscle
13	chr15:41591600-41623200	Weak transcription	HUVEC	blood vessel
14	chr15:41591800-41624000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:41592000-41618400	Weak transcription	Fetal Brain Female	brain
16	chr15:41592400-41623000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr15:41592400-41623200	Weak transcription	Osteobl	bone
18	chr15:41592400-41624000	Weak transcription	Brain Angular Gyrus	brain
19	chr15:41592600-41623800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr15:41592800-41613200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr15:41593600-41623800	Weak transcription	NH-A	brain
22	chr15:41597200-41623000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:41597200-41623000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:41600600-41623600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr15:41602400-41623000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr15:41602400-41623600	Weak transcription	NHDF-Ad	bronchial
27	chr15:41603200-41613200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:41603400-41614000	Weak transcription	Primary T cells from cord blood	blood
29	chr15:41603400-41618600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr15:41603400-41622800	Weak transcription	HepG2	liver
31	chr15:41603400-41623000	Weak transcription	Brain Germinal Matrix	brain
32	chr15:41603400-41623400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr15:41603600-41618600	Weak transcription	A549	lung
34	chr15:41603800-41615000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:41603800-41623600	Weak transcription	Fetal Lung	lung
36	chr15:41604000-41623200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:41604200-41624000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr15:41605400-41623200	Weak transcription	HMEC	breast
39	chr15:41605800-41615400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr15:41605800-41623400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr15:41605800-41623800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:41605800-41623800	Weak transcription	Adipose Nuclei	Adipose
43	chr15:41606200-41623000	Weak transcription	Hela-S3	cervix
44	chr15:41606400-41623000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr15:41606400-41623600	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:41606800-41615600	Weak transcription	GM12878-XiMat	blood
47	chr15:41606800-41623000	Weak transcription	K562	blood
48	chr15:41607600-41618600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:41608200-41624200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:41608800-41623600	Weak transcription	Fetal Muscle Leg	muscle

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