Variant report

Variant	rs1776265
Chromosome Location	chr1:150323522-150323523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150292478..150295575-chr1:150323034..150326109,3	MCF-7	breast:
2	chr1:150322416..150329853-chr1:150334337..150340134,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163125	Chromatin interaction
ENSG00000117360	Chromatin interaction

Extended variants
information (count: 124 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10157197	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10788873	0.87[ASN][1000 genomes]
rs10888578	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10888579	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10888583	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1097066	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1097069	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1097071	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11205355	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11205359	0.92[EUR][1000 genomes]
rs11205370	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11205371	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11205373	0.84[EUR][1000 genomes]
rs11205375	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11205382	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11581786	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11590406	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11811885	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12023277	0.86[ASN][1000 genomes]
rs12049177	0.83[ASN][1000 genomes]
rs12093148	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1260373	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1260385	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1260391	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1260398	0.92[EUR][1000 genomes]
rs1260401	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1260403	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1260404	0.95[EUR][1000 genomes]
rs1260407	0.95[EUR][1000 genomes]
rs1260408	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1260409	0.95[EUR][1000 genomes]
rs1260419	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1260420	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1260424	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1260457	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1260458	0.92[EUR][1000 genomes]
rs1262432	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12731296	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12736375	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12739706	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1313568	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1313569	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1313570	0.95[EUR][1000 genomes]
rs13374465	0.86[ASN][1000 genomes]
rs1566225	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1694364	0.97[EUR][1000 genomes]
rs1694379	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1694380	0.94[EUR][1000 genomes]
rs1694381	0.94[EUR][1000 genomes]
rs1694386	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1747927	0.93[EUR][1000 genomes]
rs1776270	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1776272	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1776273	0.91[EUR][1000 genomes]
rs1776275	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1776276	0.93[EUR][1000 genomes]
rs2012751	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2133129	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2264417	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2275246	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2454285	0.93[EUR][1000 genomes]
rs2762860	0.88[EUR][1000 genomes]
rs2794680	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3125808	0.94[EUR][1000 genomes]
rs35705743	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35784258	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35915849	0.82[EUR][1000 genomes]
rs3818978	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3850844	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs471738	0.92[EUR][1000 genomes]
rs488271	0.92[EUR][1000 genomes]
rs4926395	0.84[EUR][1000 genomes]
rs4926422	0.93[EUR][1000 genomes]
rs4926435	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs494041	0.82[EUR][1000 genomes]
rs494952	0.84[EUR][1000 genomes]
rs4970922	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4970963	0.83[ASN][1000 genomes]
rs4970964	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs497128	0.85[EUR][1000 genomes]
rs5011187	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs519126	0.92[EUR][1000 genomes]
rs543179	0.92[EUR][1000 genomes]
rs573351	0.84[EUR][1000 genomes]
rs578353	0.94[EUR][1000 genomes]
rs580159	0.92[EUR][1000 genomes]
rs6664703	0.86[ASN][1000 genomes]
rs6678973	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6684939	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6685252	0.87[EUR][1000 genomes]
rs6687311	0.81[AMR][1000 genomes]
rs6693697	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6699093	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs696615	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs696617	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs698914	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698917	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698918	0.88[EUR][1000 genomes]
rs698920	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs698921	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs698922	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7411534	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7513182	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7544900	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7553647	0.84[ASN][1000 genomes]
rs7554686	0.89[EUR][1000 genomes]
rs8006	0.92[EUR][1000 genomes]
rs828784	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs832621	0.84[EUR][1000 genomes]
rs834225	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs834234	0.90[EUR][1000 genomes]
rs834235	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs834237	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs834238	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs834241	0.81[EUR][1000 genomes]
rs834242	0.84[EUR][1000 genomes]
rs834243	0.95[EUR][1000 genomes]
rs863862	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9126	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9436009	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9436116	0.85[ASN][1000 genomes]
rs9436118	0.86[ASN][1000 genomes]
rs9436120	0.81[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1776265	MRPS21	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150295200-150331800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:150295400-150329600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:150295600-150328200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr1:150295800-150329800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:150296000-150329800	Strong transcription	Fetal Intestine Large	intestine
6	chr1:150296000-150329800	Strong transcription	Fetal Thymus	thymus
7	chr1:150296200-150326800	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:150296400-150328600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:150296400-150328600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:150296600-150326800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:150296600-150327200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:150296600-150327200	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr1:150296600-150328400	Strong transcription	Placenta	Placenta
14	chr1:150296600-150328600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:150296600-150328600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:150296600-150328800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:150296600-150329600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:150296800-150328400	Strong transcription	Liver	Liver
19	chr1:150296800-150328600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:150296800-150328600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:150296800-150328600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:150296800-150329800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:150297000-150328000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:150297000-150328200	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr1:150297000-150328600	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr1:150297000-150330000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:150297000-150330800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:150297200-150326600	Strong transcription	Fetal Lung	lung
29	chr1:150297200-150328400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:150297200-150329200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr1:150297200-150329600	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:150297400-150324600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:150297400-150327600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:150297400-150327600	Strong transcription	Thymus	Thymus
35	chr1:150297400-150327800	Strong transcription	Fetal Muscle Leg	muscle
36	chr1:150297400-150328000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:150297400-150328000	Strong transcription	Duodenum Mucosa	Duodenum
38	chr1:150297400-150328200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:150297400-150328600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr1:150297400-150328600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:150297400-150329000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr1:150297400-150329600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:150298000-150328600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:150298600-150328400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:150299000-150326400	Strong transcription	Dnd41	blood
46	chr1:150299000-150326600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:150300600-150328000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr1:150300800-150328000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:150303800-150327600	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:150305200-150328000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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