Variant report

Variant	rs16958910
Chromosome Location	chr15:34564554-34564555
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34553058..34555521-chr15:34561938..34565007,3	K562	blood:
2	chr15:34558780..34560972-chr15:34563410..34565603,2	K562	blood:

Extended variants
information (count: 146 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs104017	0.81[ASN][1000 genomes]
rs1045238	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12591967	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12592443	0.83[ASN][1000 genomes]
rs12593384	0.82[ASN][1000 genomes]
rs12594569	0.88[ASN][1000 genomes]
rs168335	0.95[ASN][1000 genomes]
rs16958954	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16958989	0.86[ASN][1000 genomes]
rs16958995	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16959012	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16959014	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16959020	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16959021	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs180886	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1845773	0.82[ASN][1000 genomes]
rs186987	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2085966	0.85[ASN][1000 genomes]
rs2126420	0.89[ASN][1000 genomes]
rs2126421	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2219668	0.82[ASN][1000 genomes]
rs2644245	0.94[ASN][1000 genomes]
rs2644247	0.85[ASN][1000 genomes]
rs2644248	0.85[ASN][1000 genomes]
rs2705348	0.89[ASN][1000 genomes]
rs28539755	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3063	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34639726	0.82[ASN][1000 genomes]
rs347804	0.89[ASN][1000 genomes]
rs347805	0.98[ASN][1000 genomes]
rs347806	0.93[ASN][1000 genomes]
rs347807	0.93[ASN][1000 genomes]
rs347809	0.85[ASN][1000 genomes]
rs347810	0.85[ASN][1000 genomes]
rs347812	0.88[ASN][1000 genomes]
rs347813	0.88[ASN][1000 genomes]
rs347817	0.92[ASN][1000 genomes]
rs347818	0.87[ASN][1000 genomes]
rs347819	0.90[ASN][1000 genomes]
rs347822	0.90[ASN][1000 genomes]
rs347823	0.85[ASN][1000 genomes]
rs347824	0.90[ASN][1000 genomes]
rs347830	0.81[ASN][1000 genomes]
rs347831	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs347832	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs347833	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs347834	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs347836	0.81[ASN][1000 genomes]
rs347842	0.96[ASN][1000 genomes]
rs347843	0.96[ASN][1000 genomes]
rs347845	0.89[ASN][1000 genomes]
rs347846	0.85[ASN][1000 genomes]
rs347847	0.93[ASN][1000 genomes]
rs347848	0.89[ASN][1000 genomes]
rs347849	0.93[ASN][1000 genomes]
rs347851	0.93[ASN][1000 genomes]
rs347856	0.89[ASN][1000 genomes]
rs347858	0.97[ASN][1000 genomes]
rs347860	0.86[ASN][1000 genomes]
rs347861	0.85[ASN][1000 genomes]
rs347866	0.83[ASN][1000 genomes]
rs347867	0.86[ASN][1000 genomes]
rs380248	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs383029	0.88[ASN][1000 genomes]
rs405080	0.97[ASN][1000 genomes]
rs419179	0.88[ASN][1000 genomes]
rs426634	0.94[ASN][1000 genomes]
rs436552	0.85[ASN][1000 genomes]
rs4387570	0.88[ASN][1000 genomes]
rs440025	0.94[ASN][1000 genomes]
rs442006	0.85[ASN][1000 genomes]
rs449053	0.94[ASN][1000 genomes]
rs4569235	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs55745608	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56057955	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs56207527	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56388838	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56762274	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs57715165	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57875866	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58343025	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59452641	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59802332	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59861881	0.82[ASN][1000 genomes]
rs60114685	0.98[ASN][1000 genomes]
rs60156693	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60539207	0.98[ASN][1000 genomes]
rs61376537	0.81[ASN][1000 genomes]
rs6495660	0.92[ASN][1000 genomes]
rs6495661	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6495662	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7163195	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7163919	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7164902	0.84[ASN][1000 genomes]
rs7166066	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7175028	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7176009	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7176426	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7181260	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7182584	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7183269	0.83[ASN][1000 genomes]
rs72486679	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs73374434	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73374455	0.87[ASN][1000 genomes]
rs73374473	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73374475	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73374477	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73374490	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73374491	0.85[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs73374493	0.85[ASN][1000 genomes]
rs73374500	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs73374502	0.82[ASN][1000 genomes]
rs73390084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73392004	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7495538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs756086	0.81[ASN][1000 genomes]
rs8023583	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8025057	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8031145	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8031147	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8031958	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8033032	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8037379	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8038177	0.81[ASN][1000 genomes]
rs8041425	0.90[ASN][1000 genomes]
rs8042163	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8043005	0.97[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs924065	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9630418	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9972305	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9972323	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052804	chr15:34498529-34841447	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv542341	chr15:34498529-34841447	Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1045173	chr15:34501055-34596995	Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv1798578	chr15:34543021-34988247	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	esv1804312	chr15:34543021-34988247	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1821622	chr15:34543021-34988247	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv1850950	chr15:34543021-34988247	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	esv2758376	chr15:34543021-34988247	Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	esv2760024	chr15:34543021-34988247	Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
10	nsv428303	chr15:34543021-34988247	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv1036475	chr15:34552879-34841587	Bivalent/Poised TSS Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv542342	chr15:34552879-34841587	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
13	nsv1048550	chr15:34553078-34841447	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
14	nsv542343	chr15:34553078-34841447	Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
15	nsv471682	chr15:34560451-34882630	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs16958910	NOP10	cis	Thyroid	GTEx
rs16958910	NOP10	cis	Skin Sun Exposed Lower leg	GTEx
rs16958910	NOP10	cis	Muscle Skeletal	GTEx
rs16958910	NOP10	cis	Stomach	GTEx
rs16958910	NOP10	cis	Artery Tibial	GTEx
rs16958910	NOP10	cis	Esophagus Muscularis	GTEx
rs16958910	NOP10	cis	Heart Left Ventricle	GTEx
rs16958910	SLC12A6	cis	Thyroid	GTEx
rs16958910	NOP10	cis	Esophagus Mucosa	GTEx
rs16958910	NOP10	cis	Nerve Tibial	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34518000-34571800	Weak transcription	Stomach Mucosa	stomach
2	chr15:34543000-34568200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:34546800-34567400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:34546800-34568000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:34546800-34569400	Weak transcription	Ovary	ovary
6	chr15:34546800-34571800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:34546800-34573800	Weak transcription	HUVEC	blood vessel
8	chr15:34547600-34591200	Weak transcription	Aorta	Aorta
9	chr15:34548200-34592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:34548600-34565400	Weak transcription	Fetal Intestine Large	intestine
11	chr15:34549200-34567400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:34549200-34571200	Weak transcription	Left Ventricle	heart
13	chr15:34550000-34587400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr15:34551000-34565600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr15:34551000-34567400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:34551200-34565600	Weak transcription	Liver	Liver
17	chr15:34551200-34567400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:34551200-34569400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr15:34551200-34577000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:34551200-34608800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr15:34551400-34577200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:34552200-34566000	Weak transcription	Adipose Nuclei	Adipose
23	chr15:34552200-34566000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr15:34552200-34567200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:34552200-34570800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:34553600-34567200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr15:34555200-34584200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr15:34555200-34584600	Weak transcription	Esophagus	oesophagus
29	chr15:34555200-34606600	Weak transcription	Thymus	Thymus
30	chr15:34555600-34565800	Weak transcription	Fetal Intestine Small	intestine
31	chr15:34559800-34567400	Weak transcription	A549	lung
32	chr15:34560200-34568000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr15:34561600-34565200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr15:34561600-34565200	Strong transcription	GM12878-XiMat	blood
35	chr15:34561600-34565600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:34562200-34565200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr15:34562400-34584000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr15:34562600-34566200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr15:34563000-34565200	Strong transcription	Primary B cells from cord blood	blood
40	chr15:34563000-34569400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr15:34563400-34564800	Enhancers	Hela-S3	cervix
42	chr15:34563600-34564600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr15:34563800-34566200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr15:34563800-34566400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:34563800-34567400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:34564000-34567400	Weak transcription	NHEK	skin
47	chr15:34564000-34567600	Weak transcription	NHDF-Ad	bronchial
48	chr15:34564000-34577000	Weak transcription	Fetal Heart	heart
49	chr15:34564200-34564600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr15:34564200-34564600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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