Variant report

Variant	rs698914
Chromosome Location	chr1:150298750-150298751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150296995..150298900-chr1:150319856..150322164,2	MCF-7	breast:
2	chr1:150291489..150302169-chr1:150333998..150340807,28	MCF-7	breast:
3	chr1:150296747..150298839-chr1:150303335..150306497,3	MCF-7	breast:
4	chr1:150297383..150299658-chr1:150314813..150316807,2	MCF-7	breast:
5	chr1:150206524..150209622-chr1:150296394..150298865,3	K562	blood:
6	chr1:150297591..150299496-chr1:150301624..150303136,2	MCF-7	breast:
7	chr1:150297292..150298867-chr1:150320567..150322957,2	K562	blood:
8	chr1:149857927..149859969-chr1:150298511..150301626,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184678	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000117360	Chromatin interaction

Extended variants
information (count: 136 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10157197	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10788873	0.94[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs10888578	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10888579	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10888583	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10888584	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1097066	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1097069	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1097071	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11205355	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11205359	0.98[EUR][1000 genomes]
rs11205370	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11205371	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11205373	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11205375	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11205382	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11205387	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs11581786	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11590406	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11811885	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12023277	0.86[ASN][1000 genomes]
rs12049177	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12093148	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1260373	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1260385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1260391	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1260398	0.98[EUR][1000 genomes]
rs1260401	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1260403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1260404	0.99[EUR][1000 genomes]
rs1260407	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1260408	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1260409	0.98[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	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1260458	0.91[EUR][1000 genomes]
rs1262432	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12731296	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];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];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12747669	0.85[EUR][1000 genomes]
rs1313568	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1313569	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1313570	0.95[EUR][1000 genomes]
rs13374465	0.86[ASN][1000 genomes]
rs1566225	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1694364	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1694379	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1694380	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1694381	0.99[EUR][1000 genomes]
rs1694386	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1747927	0.99[EUR][1000 genomes]
rs1776265	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1776270	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1776272	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1776273	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1776275	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1776276	0.99[EUR][1000 genomes]
rs1932934	1.00[CEU][hapmap]
rs2012751	0.87[ASN][1000 genomes]
rs2133129	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2264417	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2275246	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2454285	0.99[EUR][1000 genomes]
rs2762860	0.94[EUR][1000 genomes]
rs2794680	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3125808	0.98[EUR][1000 genomes]
rs35705743	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35784258	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35915849	0.87[EUR][1000 genomes]
rs3754214	0.96[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs3754217	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs3818978	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3850844	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4446975	1.00[CEU][hapmap]
rs4451552	1.00[CEU][hapmap]
rs471738	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs488271	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs4926395	0.83[EUR][1000 genomes]
rs4926422	0.97[EUR][1000 genomes]
rs4926435	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs494041	0.87[EUR][1000 genomes]
rs494952	0.90[EUR][1000 genomes]
rs4970922	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4970963	0.83[ASN][1000 genomes]
rs4970964	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs497128	0.91[EUR][1000 genomes]
rs5011187	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs509345	0.81[CEU][hapmap]
rs519126	0.98[EUR][1000 genomes]
rs543179	0.98[EUR][1000 genomes]
rs573351	0.89[EUR][1000 genomes]
rs578353	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs580159	0.98[EUR][1000 genomes]
rs6664703	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6678973	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6684939	0.87[ASN][1000 genomes]
rs6685252	0.92[EUR][1000 genomes]
rs6693697	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6699093	0.87[ASN][1000 genomes]
rs696615	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];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]
rs698913	1.00[CEU][hapmap]
rs698917	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698918	0.87[EUR][1000 genomes]
rs698920	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs698921	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs698922	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7411534	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7513182	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7544900	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7548085	1.00[CEU][hapmap]
rs7553647	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7554686	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs8006	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs828784	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs832621	0.83[EUR][1000 genomes]
rs834225	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs834234	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs834235	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs834237	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs834238	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs834242	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs834243	0.95[EUR][1000 genomes]
rs863862	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs875514	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]
rs9126	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9436009	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];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]
rs9661040	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]

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	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs698914	MRPS21	cis	lung	GTEx
rs698914	MRPS21	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150294600-150299200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:150294600-150301200	Weak transcription	Pancreas	Pancrea
3	chr1:150294800-150299200	Weak transcription	Aorta	Aorta
4	chr1:150294800-150305400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:150295000-150299200	Weak transcription	Gastric	stomach
6	chr1:150295000-150300400	Weak transcription	Esophagus	oesophagus
7	chr1:150295000-150304800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:150295000-150304800	Weak transcription	Fetal Heart	heart
9	chr1:150295200-150304800	Weak transcription	Stomach Mucosa	stomach
10	chr1:150295200-150331800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:150295400-150304800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:150295400-150321200	Strong transcription	Fetal Stomach	stomach
13	chr1:150295400-150329600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:150295600-150299000	Genic enhancers	Dnd41	blood
15	chr1:150295600-150299400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:150295600-150321400	Strong transcription	Fetal Intestine Small	intestine
17	chr1:150295600-150328200	Strong transcription	Primary B cells from peripheral blood	blood
18	chr1:150295800-150329800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:150296000-150301000	Strong transcription	HSMM	muscle
20	chr1:150296000-150302200	Strong transcription	GM12878-XiMat	blood
21	chr1:150296000-150329800	Strong transcription	Fetal Intestine Large	intestine
22	chr1:150296000-150329800	Strong transcription	Fetal Thymus	thymus
23	chr1:150296200-150326800	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:150296400-150328600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:150296400-150328600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:150296600-150302400	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr1:150296600-150305200	Strong transcription	Brain Angular Gyrus	brain
28	chr1:150296600-150322400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:150296600-150326800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:150296600-150327200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:150296600-150327200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr1:150296600-150328400	Strong transcription	Placenta	Placenta
33	chr1:150296600-150328600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:150296600-150328600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:150296600-150328800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:150296600-150329600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr1:150296800-150302000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr1:150296800-150302400	Strong transcription	Primary hematopoietic stem cells	blood
39	chr1:150296800-150302800	Strong transcription	Primary T cells from cord blood	blood
40	chr1:150296800-150302800	Strong transcription	A549	lung
41	chr1:150296800-150319800	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr1:150296800-150321600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:150296800-150323200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:150296800-150328400	Strong transcription	Liver	Liver
45	chr1:150296800-150328600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:150296800-150328600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr1:150296800-150328600	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:150296800-150329800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:150297000-150309000	Strong transcription	NHEK	skin
50	chr1:150297000-150328000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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