Variant report

Variant	rs573351
Chromosome Location	chr1:150271080-150271081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150269191..150272405-chr1:150292812..150295253,3	MCF-7	breast:
2	chr1:150270358..150272850-chr1:150276338..150279284,2	K562	blood:
3	chr1:150269403..150271858-chr1:150275044..150277838,2	K562	blood:
4	chr1:150232480..150234963-chr1:150270250..150271855,2	K562	blood:
5	chr1:150270315..150271818-chr1:150274900..150276885,2	MCF-7	breast:
6	chr1:150264435..150268272-chr1:150270315..150275864,5	K562	blood:

Variant related genes	Relation type
ENSG00000117360	Chromatin interaction
ENSG00000238526	Chromatin interaction
ENSG00000187145	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10157197	0.81[EUR][1000 genomes]
rs10888578	0.87[EUR][1000 genomes]
rs10888579	0.88[EUR][1000 genomes]
rs1097066	0.86[EUR][1000 genomes]
rs1097069	0.85[EUR][1000 genomes]
rs1097071	0.80[EUR][1000 genomes]
rs11205355	0.81[EUR][1000 genomes]
rs11205357	0.84[ASN][1000 genomes]
rs11205359	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1122967	0.83[ASN][1000 genomes]
rs11811885	0.90[EUR][1000 genomes]
rs12093148	0.89[EUR][1000 genomes]
rs1260373	0.83[EUR][1000 genomes]
rs1260385	0.88[EUR][1000 genomes]
rs1260396	0.82[ASN][1000 genomes]
rs1260398	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1260401	0.86[EUR][1000 genomes]
rs1260403	0.88[EUR][1000 genomes]
rs1260404	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1260407	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1260408	0.88[EUR][1000 genomes]
rs1260409	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1260457	0.81[EUR][1000 genomes]
rs1260458	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12739706	0.87[EUR][1000 genomes]
rs12747669	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1313568	0.84[EUR][1000 genomes]
rs1313569	0.84[EUR][1000 genomes]
rs1313570	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1694364	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1694370	0.81[ASN][1000 genomes]
rs1694379	0.90[EUR][1000 genomes]
rs1694380	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1694381	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1747927	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1776265	0.84[EUR][1000 genomes]
rs1776272	0.88[EUR][1000 genomes]
rs1776273	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1776274	0.84[ASN][1000 genomes]
rs1776275	0.90[EUR][1000 genomes]
rs1776276	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2133129	0.80[EUR][1000 genomes]
rs2147324	0.80[ASN][1000 genomes]
rs2274127	0.80[ASN][1000 genomes]
rs2454285	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2762860	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3125808	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35915849	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3818978	0.88[EUR][1000 genomes]
rs4581308	0.82[ASN][1000 genomes]
rs471464	0.81[ASN][1000 genomes]
rs471738	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs488271	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4926422	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs494041	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs494952	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs497128	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs509345	0.83[ASN][1000 genomes]
rs519126	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs543179	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs578353	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs580060	0.82[ASN][1000 genomes]
rs580159	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6685252	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6693697	0.81[EUR][1000 genomes]
rs696615	0.84[EUR][1000 genomes]
rs698914	0.89[EUR][1000 genomes]
rs698917	0.87[EUR][1000 genomes]
rs7512552	0.83[ASN][1000 genomes]
rs7544900	0.89[EUR][1000 genomes]
rs7554686	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8006	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs828784	0.83[EUR][1000 genomes]
rs834225	0.89[EUR][1000 genomes]
rs834243	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs863862	0.80[EUR][1000 genomes]
rs9126	0.87[EUR][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	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
3	nsv1011223	chr1:150229205-150279380	Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs573351	MRPS21	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150267000-150271200	Weak transcription	Colonic Mucosa	Colon
2	chr1:150267000-150272200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:150267000-150272400	Weak transcription	Left Ventricle	heart
4	chr1:150267000-150272800	Weak transcription	Primary T cells from cord blood	blood
5	chr1:150267000-150273800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:150267000-150274000	Weak transcription	Aorta	Aorta
7	chr1:150267000-150274200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:150267000-150274400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:150267000-150274400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:150267000-150274600	Weak transcription	Gastric	stomach
11	chr1:150267000-150274600	Weak transcription	Ovary	ovary
12	chr1:150267000-150280000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:150267000-150280000	Weak transcription	Small Intestine	intestine
14	chr1:150267000-150284000	Weak transcription	Brain Substantia Nigra	brain
15	chr1:150267000-150293200	Weak transcription	Stomach Mucosa	stomach
16	chr1:150267200-150272200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:150267200-150273000	Weak transcription	NH-A	brain
18	chr1:150267200-150273400	Weak transcription	Primary B cells from cord blood	blood
19	chr1:150267200-150273800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:150267200-150273800	Weak transcription	Right Ventricle	heart
21	chr1:150267200-150274400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:150267200-150274400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:150267200-150274400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:150267200-150274400	Weak transcription	Fetal Kidney	kidney
25	chr1:150267200-150275600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:150267200-150276000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:150267200-150280000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:150267200-150280000	Weak transcription	Esophagus	oesophagus
29	chr1:150267200-150286400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:150267400-150272400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:150267400-150273600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:150267600-150273400	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr1:150267600-150274400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:150267600-150274400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:150267600-150274400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:150267600-150275200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:150267600-150275400	Strong transcription	Fetal Stomach	stomach
38	chr1:150267600-150276400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr1:150267600-150277800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:150267800-150271600	Strong transcription	H9 Cell Line	embryonic stem cell
41	chr1:150267800-150271600	Strong transcription	Placenta	Placenta
42	chr1:150267800-150273000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:150267800-150273200	Strong transcription	Brain Hippocampus Middle	brain
44	chr1:150267800-150274400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr1:150267800-150276400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:150267800-150277000	Strong transcription	Adipose Nuclei	Adipose
47	chr1:150267800-150280800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:150267800-150281400	Strong transcription	Liver	Liver
49	chr1:150267800-150282000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr1:150268000-150274000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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