Variant report

Variant	rs73388020
Chromosome Location	chr15:34527085-34527086
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:34515561..34517210-chr15:34526096..34527969,2	K562	blood:
2	chr15:34512144..34514985-chr15:34525295..34527428,3	K562	blood:
3	chr15:34524299..34528095-chr15:34529028..34532690,4	K562	blood:
4	chr15:34516899..34518721-chr15:34526418..34530376,3	MCF-7	breast:
5	chr15:34526514..34531481-chr15:34531605..34533762,5	K562	blood:

Variant related genes	Relation type
ENSG00000128463	Chromatin interaction
ENSG00000140199	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10851964	0.89[ASN][1000 genomes]
rs1133154	0.88[ASN][1000 genomes]
rs12050753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16958878	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17236763	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17236777	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17236784	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17236798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17236819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17817800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17817806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2244040	0.92[ASN][1000 genomes]
rs2290940	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2290941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2290942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2705343	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs4238572	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4577050	0.89[ASN][1000 genomes]
rs4780233	0.88[ASN][1000 genomes]
rs4780234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56761496	0.90[ASN][1000 genomes]
rs57494441	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59023791	0.88[ASN][1000 genomes]
rs59091709	0.88[ASN][1000 genomes]
rs59209438	0.88[ASN][1000 genomes]
rs59712831	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60165224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60604568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61549125	0.90[ASN][1000 genomes]
rs6495639	0.94[ASN][1000 genomes]
rs6495646	0.92[ASN][1000 genomes]
rs73386033	0.88[ASN][1000 genomes]
rs73386037	0.88[ASN][1000 genomes]
rs73386038	0.88[ASN][1000 genomes]
rs73388003	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73388027	0.85[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs73388046	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73388049	0.97[ASN][1000 genomes]
rs8035954	0.81[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	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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs73388020	NOP10	cis	Heart Left Ventricle	GTEx
rs73388020	NOP10	cis	Thyroid	GTEx
rs73388020	NOP10	cis	Nerve Tibial	GTEx
rs73388020	NOP10	cis	Artery Tibial	GTEx
rs73388020	NOP10	cis	Esophagus Muscularis	GTEx
rs73388020	SLC12A6	cis	Thyroid	GTEx
rs73388020	NOP10	cis	Muscle Skeletal	GTEx
rs73388020	NOP10	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34517800-34531200	Weak transcription	Small Intestine	intestine
2	chr15:34518000-34528000	Weak transcription	Aorta	Aorta
3	chr15:34518000-34532800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:34518000-34571800	Weak transcription	Stomach Mucosa	stomach
5	chr15:34518200-34528800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr15:34518400-34531000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:34518800-34529000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:34518800-34548200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr15:34519000-34552400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr15:34519200-34530200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr15:34519200-34533200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr15:34519200-34534000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:34519200-34552200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:34519200-34553600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr15:34519400-34530200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:34519400-34533200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr15:34519400-34540800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:34519400-34552200	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr15:34519400-34552200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:34519600-34531800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr15:34519600-34533400	Strong transcription	Duodenum Mucosa	Duodenum
22	chr15:34519600-34533400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr15:34519600-34533600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr15:34519600-34533600	Strong transcription	Fetal Muscle Leg	muscle
25	chr15:34519600-34538400	Strong transcription	Fetal Intestine Large	intestine
26	chr15:34519600-34544200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr15:34519600-34553600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr15:34519800-34531200	Strong transcription	GM12878-XiMat	blood
29	chr15:34519800-34533000	Strong transcription	Brain Anterior Caudate	brain
30	chr15:34519800-34540000	Strong transcription	Liver	Liver
31	chr15:34519800-34544800	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr15:34520000-34528000	Weak transcription	Fetal Kidney	kidney
33	chr15:34520000-34529600	Weak transcription	Fetal Heart	heart
34	chr15:34520000-34531400	Strong transcription	Fetal Brain Female	brain
35	chr15:34520200-34530200	Weak transcription	Psoas Muscle	Psoas
36	chr15:34520200-34555600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr15:34520800-34530800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr15:34521000-34532800	Weak transcription	K562	blood
39	chr15:34521000-34547800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:34521800-34528000	Weak transcription	Gastric	stomach
41	chr15:34521800-34528000	Weak transcription	Pancreas	Pancrea
42	chr15:34521800-34531000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr15:34522000-34527200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr15:34522000-34527800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:34522200-34528000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr15:34522600-34528000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr15:34522600-34528000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:34522800-34528000	Weak transcription	Fetal Brain Male	brain
49	chr15:34523000-34527200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:34523000-34528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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