Variant report

Variant	rs1097071
Chromosome Location	chr1:150332870-150332871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150332870-150332927	HepG2	liver:	n/a	n/a
2	POLR2A	chr1:150332727-150333713	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150331050..150333036-chr1:150346783..150348333,2	MCF-7	breast:
2	chr1:150325534..150329741-chr1:150331165..150334243,4	MCF-7	breast:
3	chr1:150330080..150333038-chr1:150335056..150338856,5	MCF-7	breast:

Variant related genes	Relation type
RPRD2	TF binding region
ENSG00000163125	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10157197	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10788873	0.86[ASN][1000 genomes]
rs10888578	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10888579	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10888583	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1097066	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1097069	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11205355	0.88[ASN][1000 genomes]
rs11205359	0.89[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];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11205382	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11581786	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11590406	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11811885	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12023277	0.86[ASN][1000 genomes]
rs12049177	0.83[ASN][1000 genomes]
rs12093148	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1260373	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1260385	0.96[AMR][1000 genomes];0.91[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	0.89[EUR][1000 genomes]
rs1260401	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1260403	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1260404	0.91[EUR][1000 genomes]
rs1260407	0.91[EUR][1000 genomes]
rs1260408	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1260409	0.91[EUR][1000 genomes]
rs1260419	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1260420	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1260424	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1260457	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1260458	0.93[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];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12736375	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12739706	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1313568	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1313569	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1313570	0.96[EUR][1000 genomes]
rs13374465	0.86[ASN][1000 genomes]
rs1566225	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1694364	0.94[EUR][1000 genomes]
rs1694379	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1694380	0.90[EUR][1000 genomes]
rs1694381	0.89[EUR][1000 genomes]
rs1694386	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1747927	0.89[EUR][1000 genomes]
rs1776265	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1776270	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1776272	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1776273	0.88[EUR][1000 genomes]
rs1776275	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1776276	0.89[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	0.89[EUR][1000 genomes]
rs2762860	0.85[EUR][1000 genomes]
rs2794680	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3125808	0.90[EUR][1000 genomes]
rs35705743	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35784258	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3818978	0.88[AMR][1000 genomes];0.85[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	0.89[EUR][1000 genomes]
rs488271	0.89[EUR][1000 genomes]
rs4926395	0.84[EUR][1000 genomes]
rs4926422	0.89[EUR][1000 genomes]
rs4926435	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs494952	0.81[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	0.82[EUR][1000 genomes]
rs5011187	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs519126	0.89[EUR][1000 genomes]
rs543179	0.89[EUR][1000 genomes]
rs573351	0.80[EUR][1000 genomes]
rs578353	0.90[EUR][1000 genomes]
rs580159	0.89[EUR][1000 genomes]
rs6664703	0.86[ASN][1000 genomes]
rs6678973	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6684939	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6685252	0.84[EUR][1000 genomes]
rs6693697	0.80[AMR][1000 genomes]
rs6699093	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs696615	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs696617	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs698914	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698917	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698918	0.85[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];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7544900	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7553647	0.84[ASN][1000 genomes]
rs7554686	0.86[EUR][1000 genomes]
rs8006	0.89[EUR][1000 genomes]
rs828784	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs832621	0.84[EUR][1000 genomes]
rs834225	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs834234	0.91[EUR][1000 genomes]
rs834235	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs834237	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs834238	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs834242	0.85[EUR][1000 genomes]
rs834243	0.96[EUR][1000 genomes]
rs863862	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9126	0.85[AMR][1000 genomes];0.84[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
rs1097071	MRPS21	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150305600-150336200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:150308200-150335600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:150314000-150335200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:150319000-150335200	Weak transcription	Stomach Mucosa	stomach
5	chr1:150319200-150335600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:150320200-150333800	Weak transcription	HepG2	liver
7	chr1:150320200-150335400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:150320200-150335400	Weak transcription	Right Ventricle	heart
9	chr1:150320200-150336200	Weak transcription	Gastric	stomach
10	chr1:150320800-150335000	Weak transcription	Psoas Muscle	Psoas
11	chr1:150324800-150335400	Weak transcription	Colonic Mucosa	Colon
12	chr1:150325600-150335600	Weak transcription	Small Intestine	intestine
13	chr1:150326000-150335400	Weak transcription	Brain Substantia Nigra	brain
14	chr1:150326200-150335000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:150326200-150335200	Weak transcription	Brain Angular Gyrus	brain
16	chr1:150326200-150335200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:150326200-150335200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:150326200-150335200	Weak transcription	Pancreas	Pancrea
19	chr1:150326200-150335200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:150326200-150335400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:150326200-150335400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:150326200-150335400	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:150326200-150335600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:150326200-150335600	Weak transcription	Aorta	Aorta
25	chr1:150326200-150336000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:150326400-150334400	Weak transcription	K562	blood
27	chr1:150326400-150334800	Weak transcription	Dnd41	blood
28	chr1:150326400-150335200	Weak transcription	Fetal Brain Male	brain
29	chr1:150326400-150335200	Weak transcription	Fetal Kidney	kidney
30	chr1:150326400-150335400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:150326400-150335400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr1:150326400-150335400	Weak transcription	Brain Anterior Caudate	brain
33	chr1:150326600-150335000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:150326600-150335000	Weak transcription	Hela-S3	cervix
35	chr1:150326600-150335200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:150326600-150335200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:150326600-150335200	Weak transcription	Fetal Lung	lung
38	chr1:150326600-150335200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr1:150326600-150335200	Weak transcription	GM12878-XiMat	blood
40	chr1:150326600-150335200	Weak transcription	NHEK	skin
41	chr1:150326600-150335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:150326600-150335400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:150326600-150335400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr1:150326600-150335400	Weak transcription	NHLF	lung
45	chr1:150326600-150335600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:150326600-150335600	Weak transcription	Primary B cells from cord blood	blood
47	chr1:150326600-150335600	Weak transcription	Colon Smooth Muscle	Colon
48	chr1:150326800-150335400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:150327000-150336000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:150327200-150335400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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