Variant report

Variant	rs9436122
Chromosome Location	chr1:150476023-150476024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150473817..150476498-chr1:150487522..150489354,2	MCF-7	breast:
2	chr1:150475757..150478254-chr1:150479608..150481543,2	K562	blood:
3	chr1:150474284..150478423-chr1:150479020..150481342,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143369	Chromatin interaction
ENSG00000228126	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10888583	0.82[ASN][1000 genomes]
rs10888584	0.89[ASN][1000 genomes]
rs11205375	0.81[ASN][1000 genomes]
rs11205382	0.82[ASN][1000 genomes]
rs11581786	0.81[ASN][1000 genomes]
rs12023277	0.86[ASN][1000 genomes]
rs12049177	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12731296	0.81[ASN][1000 genomes]
rs12736375	0.81[ASN][1000 genomes]
rs1566225	0.81[ASN][1000 genomes]
rs1815545	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2012751	0.80[ASN][1000 genomes]
rs2275246	0.86[ASN][1000 genomes]
rs35705743	0.83[ASN][1000 genomes]
rs3754214	0.87[ASN][1000 genomes]
rs3754217	0.87[ASN][1000 genomes]
rs3850844	0.81[ASN][1000 genomes]
rs4970922	0.86[ASN][1000 genomes]
rs4970963	0.83[ASN][1000 genomes]
rs4970964	0.86[ASN][1000 genomes]
rs4970979	0.80[ASN][1000 genomes]
rs5011187	0.81[ASN][1000 genomes]
rs6664703	0.86[ASN][1000 genomes]
rs6684939	0.82[ASN][1000 genomes]
rs6699093	0.82[ASN][1000 genomes]
rs7411534	0.85[ASN][1000 genomes]
rs7513182	0.82[ASN][1000 genomes]
rs7513247	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7553647	0.87[ASN][1000 genomes]
rs875514	0.81[ASN][1000 genomes]
rs9436009	0.86[ASN][1000 genomes]
rs9436116	0.85[ASN][1000 genomes]
rs9436118	0.86[ASN][1000 genomes]
rs9436120	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9436122	MRPS21	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150460600-150480200	Weak transcription	Right Atrium	heart
2	chr1:150460600-150480200	Weak transcription	Stomach Mucosa	stomach
3	chr1:150460800-150476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:150460800-150478000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:150460800-150480000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
7	chr1:150461200-150478200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:150461200-150478600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:150461400-150480000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:150461400-150480400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:150461400-150480400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr1:150461400-150480600	Strong transcription	Fetal Intestine Large	intestine
13	chr1:150462000-150480000	Strong transcription	Fetal Stomach	stomach
14	chr1:150462000-150480600	Strong transcription	Fetal Intestine Small	intestine
15	chr1:150462000-150485800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:150463200-150479800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:150463400-150477600	Weak transcription	Fetal Kidney	kidney
18	chr1:150464000-150477000	Weak transcription	HUVEC	blood vessel
19	chr1:150464200-150476800	Weak transcription	Psoas Muscle	Psoas
20	chr1:150464800-150480200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:150466000-150477800	Weak transcription	Small Intestine	intestine
22	chr1:150466400-150476600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr1:150468000-150479800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:150468000-150480800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:150468200-150478000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:150468200-150480200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:150468400-150477400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:150468400-150479600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:150468400-150479800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:150468400-150479800	Strong transcription	Fetal Thymus	thymus
31	chr1:150468400-150480200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:150468400-150480200	Strong transcription	Fetal Muscle Leg	muscle
33	chr1:150468400-150480800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:150468600-150478200	Strong transcription	Placenta	Placenta
35	chr1:150468600-150479600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr1:150468600-150479800	Strong transcription	Adipose Nuclei	Adipose
37	chr1:150468600-150480200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr1:150468600-150481000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:150468600-150481000	Strong transcription	Thymus	Thymus
40	chr1:150468800-150479800	Strong transcription	Lung	lung
41	chr1:150468800-150480000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:150468800-150483800	Strong transcription	Brain Germinal Matrix	brain
43	chr1:150470400-150478600	Strong transcription	Osteobl	bone
44	chr1:150471200-150478400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:150471400-150478000	Weak transcription	HMEC	breast
46	chr1:150471600-150480800	Strong transcription	Liver	Liver
47	chr1:150471800-150476600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:150471800-150476800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:150471800-150476800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:150471800-150476800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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