Variant report

Variant	rs59611916
Chromosome Location	chr15:34444494-34444495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11072998	0.81[ASN][1000 genomes]
rs12594077	0.85[ASN][1000 genomes]
rs16958829	0.82[ASN][1000 genomes]
rs16958835	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16958836	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2339368	0.82[ASN][1000 genomes]
rs2339369	0.81[ASN][1000 genomes]
rs56936283	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57699120	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57715967	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6495558	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7166360	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7172480	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7175168	0.82[ASN][1000 genomes]
rs73376156	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73376164	0.85[ASN][1000 genomes]
rs73376168	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73376178	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73376181	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73376192	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73376193	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73376196	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73378126	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73378144	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73380107	0.82[ASN][1000 genomes]
rs8025730	0.83[ASN][1000 genomes]
rs8031102	0.83[ASN][1000 genomes]
rs8036791	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8040732	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035579	chr15:34363159-34501115	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs59611916	NOP10	cis	Esophagus Muscularis	GTEx
rs59611916	NOP10	cis	Muscle Skeletal	GTEx
rs59611916	NOP10	cis	Esophagus Mucosa	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34424400-34446400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:34427800-34446400	Weak transcription	Psoas Muscle	Psoas
3	chr15:34429200-34446200	Strong transcription	Placenta	Placenta
4	chr15:34429400-34445400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:34429400-34445600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:34429400-34445800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:34429600-34444800	Strong transcription	Adipose Nuclei	Adipose
8	chr15:34429600-34446400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr15:34429800-34446400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:34429800-34456800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:34430200-34445600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr15:34430200-34446000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:34430600-34446600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:34431000-34446200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr15:34431000-34446400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:34431200-34445600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:34431200-34446400	Weak transcription	K562	blood
18	chr15:34431200-34453200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr15:34431400-34446000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:34431400-34446800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:34432000-34446400	Weak transcription	Brain Substantia Nigra	brain
22	chr15:34432800-34446400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr15:34433000-34446600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr15:34433000-34446800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr15:34433200-34448200	Weak transcription	Gastric	stomach
26	chr15:34433400-34446400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr15:34433400-34453200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr15:34434000-34453000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:34434200-34446200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr15:34434200-34446400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:34434400-34446400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:34434400-34450200	Strong transcription	Fetal Muscle Trunk	muscle
33	chr15:34434600-34446600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr15:34434800-34444800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:34435000-34446400	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr15:34435400-34445800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:34435800-34453000	Weak transcription	Stomach Mucosa	stomach
38	chr15:34437000-34445000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr15:34437200-34446800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr15:34437200-34449600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr15:34437400-34446400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr15:34437600-34446800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr15:34437800-34444600	Weak transcription	HMEC	breast
44	chr15:34438000-34446400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr15:34438000-34446600	Weak transcription	Hela-S3	cervix
46	chr15:34438200-34444800	Strong transcription	Fetal Thymus	thymus
47	chr15:34438200-34445000	Strong transcription	Primary hematopoietic stem cells	blood
48	chr15:34438200-34445200	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr15:34438200-34447000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:34438400-34445800	Strong transcription	HUES6 Cell Line	embryonic stem cell

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