Variant report

Variant	rs11811885
Chromosome Location	chr1:150268461-150268462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150204882..150207260-chr1:150266148..150269015,2	MCF-7	breast:
2	chr1:150264700..150268461-chr1:150290358..150296338,12	MCF-7	breast:
3	chr1:150242514..150245022-chr1:150266520..150269823,3	K562	blood:
4	chr1:150264496..150269056-chr1:150292330..150296241,7	MCF-7	breast:
5	chr1:150266649..150270690-chr1:150280933..150283523,3	K562	blood:
6	chr1:150266239..150267873-chr1:150268229..150269796,2	MCF-7	breast:
7	chr1:150206170..150208675-chr1:150264452..150269195,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187145	Chromatin interaction
ENSG00000117360	Chromatin interaction
ENSG00000143401	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10157197	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10788873	0.94[ASN][1000 genomes]
rs10888578	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10888579	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1097066	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1097069	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1097071	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11205355	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11205359	0.97[EUR][1000 genomes]
rs11205370	0.84[ASN][1000 genomes]
rs11205371	0.84[ASN][1000 genomes]
rs11205375	0.81[ASN][1000 genomes]
rs11581786	0.81[ASN][1000 genomes]
rs11590406	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12093148	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1260373	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1260385	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1260391	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260398	0.97[EUR][1000 genomes]
rs1260401	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1260403	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1260404	0.94[EUR][1000 genomes]
rs1260407	0.94[EUR][1000 genomes]
rs1260408	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1260409	0.93[EUR][1000 genomes]
rs1260419	0.83[ASN][1000 genomes]
rs1260420	0.83[ASN][1000 genomes]
rs1260424	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1260457	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1260458	0.87[EUR][1000 genomes]
rs1262432	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12731296	0.81[ASN][1000 genomes]
rs12736375	0.81[ASN][1000 genomes]
rs12739706	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12747669	0.90[EUR][1000 genomes]
rs1313568	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1313569	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1313570	0.90[EUR][1000 genomes]
rs1566225	0.81[ASN][1000 genomes]
rs1694364	0.92[EUR][1000 genomes]
rs1694379	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1694380	0.96[EUR][1000 genomes]
rs1694381	0.95[EUR][1000 genomes]
rs1694386	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1747927	0.95[EUR][1000 genomes]
rs1776265	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1776270	0.87[ASN][1000 genomes]
rs1776272	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1776273	0.98[EUR][1000 genomes]
rs1776275	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1776276	0.95[EUR][1000 genomes]
rs2133129	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2264417	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2454285	0.95[EUR][1000 genomes]
rs2762860	0.92[EUR][1000 genomes]
rs2794680	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3125808	0.94[EUR][1000 genomes]
rs35784258	0.84[ASN][1000 genomes]
rs35915849	0.87[EUR][1000 genomes]
rs3818978	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850844	0.81[ASN][1000 genomes]
rs471738	0.97[EUR][1000 genomes]
rs488271	0.97[EUR][1000 genomes]
rs4926422	0.93[EUR][1000 genomes]
rs494041	0.87[EUR][1000 genomes]
rs494952	0.90[EUR][1000 genomes]
rs497128	0.91[EUR][1000 genomes]
rs5011187	0.81[ASN][1000 genomes]
rs519126	0.95[EUR][1000 genomes]
rs543179	0.97[EUR][1000 genomes]
rs573351	0.90[EUR][1000 genomes]
rs578353	0.96[EUR][1000 genomes]
rs580159	0.97[EUR][1000 genomes]
rs6678973	0.83[ASN][1000 genomes]
rs6685252	0.95[EUR][1000 genomes]
rs6693697	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs696615	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs696617	0.87[ASN][1000 genomes]
rs698914	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs698917	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs698918	0.82[EUR][1000 genomes]
rs698921	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs698922	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7544900	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7554686	0.99[EUR][1000 genomes]
rs8006	0.97[EUR][1000 genomes]
rs828784	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs834225	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs834234	0.85[EUR][1000 genomes]
rs834235	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs834237	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs834238	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs834243	0.90[EUR][1000 genomes]
rs863862	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9126	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1009508	chr1:150211112-150270830	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11811885	MRPS21	cis	Thyroid	GTEx
rs11811885	MRPS21	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150267000-150268600	Enhancers	Fetal Brain Male	brain
2	chr1:150267000-150268600	Weak transcription	Fetal Lung	lung
3	chr1:150267000-150269200	Weak transcription	Right Atrium	heart
4	chr1:150267000-150270400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:150267000-150271200	Weak transcription	Colonic Mucosa	Colon
6	chr1:150267000-150272200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:150267000-150272400	Weak transcription	Left Ventricle	heart
8	chr1:150267000-150272800	Weak transcription	Primary T cells from cord blood	blood
9	chr1:150267000-150273800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:150267000-150274000	Weak transcription	Aorta	Aorta
11	chr1:150267000-150274200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:150267000-150274400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:150267000-150274400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:150267000-150274600	Weak transcription	Gastric	stomach
15	chr1:150267000-150274600	Weak transcription	Ovary	ovary
16	chr1:150267000-150280000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:150267000-150280000	Weak transcription	Small Intestine	intestine
18	chr1:150267000-150284000	Weak transcription	Brain Substantia Nigra	brain
19	chr1:150267000-150293200	Weak transcription	Stomach Mucosa	stomach
20	chr1:150267200-150268600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:150267200-150268800	Weak transcription	Lung	lung
22	chr1:150267200-150269000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:150267200-150269600	Weak transcription	HSMMtube	muscle
24	chr1:150267200-150269800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:150267200-150269800	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:150267200-150269800	Weak transcription	Psoas Muscle	Psoas
27	chr1:150267200-150272200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:150267200-150273000	Weak transcription	NH-A	brain
29	chr1:150267200-150273400	Weak transcription	Primary B cells from cord blood	blood
30	chr1:150267200-150273800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:150267200-150273800	Weak transcription	Right Ventricle	heart
32	chr1:150267200-150274400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:150267200-150274400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:150267200-150274400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:150267200-150274400	Weak transcription	Fetal Kidney	kidney
36	chr1:150267200-150275600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:150267200-150276000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:150267200-150280000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:150267200-150280000	Weak transcription	Esophagus	oesophagus
40	chr1:150267200-150286400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr1:150267400-150268600	Enhancers	Fetal Brain Female	brain
42	chr1:150267400-150268800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:150267400-150269000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:150267400-150269000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:150267400-150269000	Genic enhancers	Fetal Thymus	thymus
46	chr1:150267400-150269400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:150267400-150270200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:150267400-150270600	Weak transcription	Fetal Intestine Large	intestine
49	chr1:150267400-150272400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:150267400-150273600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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