Variant report

Variant	rs2794614
Chromosome Location	chr1:150311948-150311949
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150311528-150312191	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150306365..150308587-chr1:150311291..150314130,2	K562	blood:
2	chr1:150306365..150308699-chr1:150311408..150314130,2	K562	blood:
3	chr1:150294499..150296589-chr1:150311548..150313994,2	MCF-7	breast:
4	chr1:150311477..150313380-chr1:150315604..150318472,2	MCF-7	breast:
5	chr1:150304129..150306296-chr1:150310354..150312300,2	K562	blood:
6	chr1:150309217..150316448-chr1:150334640..150338012,6	MCF-7	breast:

No data

Variant related genes	Relation type
PRPF3	TF binding region
ENSG00000163125	Chromatin interaction
ENSG00000117360	Chromatin interaction

Extended variants
information (count: 153 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs1097067	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1097068	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1097070	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1103115	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11205357	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11205359	0.83[ASN][1000 genomes]
rs11205373	0.87[ASN][1000 genomes]
rs1122967	0.80[ASN][1000 genomes]
rs1145583	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11577600	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11577843	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11581351	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11587116	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11587575	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11587758	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11590324	0.82[EUR][1000 genomes]
rs11590787	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12023378	0.82[ASN][1000 genomes]
rs12028001	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12040949	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12042229	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12045304	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12046446	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1260367	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1260368	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1260378	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260386	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1260388	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1260389	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1260394	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1260396	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1260398	0.83[ASN][1000 genomes]
rs1260400	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1260404	0.92[ASN][1000 genomes]
rs1260405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1260406	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1260407	0.92[ASN][1000 genomes]
rs1260409	0.90[ASN][1000 genomes]
rs1260411	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1260421	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1260422	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1260458	0.91[ASN][1000 genomes]
rs1260459	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1313570	0.91[ASN][1000 genomes]
rs1498308	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1614039	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1617829	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1625468	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1627235	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1631973	0.87[ASN][1000 genomes]
rs1694362	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1694363	0.82[ASN][1000 genomes]
rs1694364	0.91[ASN][1000 genomes]
rs1694369	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1694370	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1694375	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1694377	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1694380	0.88[ASN][1000 genomes]
rs1694381	0.89[ASN][1000 genomes]
rs1694385	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1694390	0.85[ASN][1000 genomes]
rs1747927	0.88[ASN][1000 genomes]
rs17596326	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1776273	0.81[ASN][1000 genomes]
rs1776274	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1776276	0.86[ASN][1000 genomes]
rs1972031	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2264418	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2454285	0.87[ASN][1000 genomes]
rs2454286	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2477121	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2794615	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2794678	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2794679	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2794681	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2794682	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2794684	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2794685	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2797653	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2867893	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2867894	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2873669	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3125808	0.92[ASN][1000 genomes]
rs35057759	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3820544	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3896342	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4333886	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4446975	0.80[ASN][1000 genomes]
rs4451552	0.80[ASN][1000 genomes]
rs45595332	0.82[ASN][1000 genomes]
rs4581308	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs471464	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs471738	0.83[ASN][1000 genomes]
rs486275	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs488271	0.88[ASN][1000 genomes]
rs4926394	0.87[ASN][1000 genomes]
rs4926395	0.87[ASN][1000 genomes]
rs4926422	0.92[ASN][1000 genomes]
rs4926436	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4926437	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4970971	0.80[ASN][1000 genomes]
rs500812	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs509345	0.84[ASN][1000 genomes]
rs519126	0.87[ASN][1000 genomes]
rs521607	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs522435	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs543179	0.81[ASN][1000 genomes]
rs55742549	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55823828	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56214461	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs578353	0.88[ASN][1000 genomes]
rs580060	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs580159	0.83[ASN][1000 genomes]
rs6662108	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6672808	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6703652	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs696616	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs698916	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs698918	0.89[ASN][1000 genomes]
rs698919	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs698923	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7002	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72696885	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72696900	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7512552	0.80[ASN][1000 genomes]
rs7517441	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7523428	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7538981	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7539458	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8006	0.83[ASN][1000 genomes]
rs828783	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs832621	0.87[ASN][1000 genomes]
rs832622	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs834228	0.85[ASN][1000 genomes]
rs834229	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs834230	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs834231	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs834232	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs834233	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs834234	0.89[ASN][1000 genomes]
rs834236	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs834241	0.87[ASN][1000 genomes]
rs834242	0.87[ASN][1000 genomes]
rs834243	0.89[ASN][1000 genomes]
rs844309	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9435997	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9436007	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9436008	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9436108	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9436112	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9436115	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9436119	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
rs2794614	MRPS21	Cis_1M	lymphoblastoid	RTeQTL

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	chr1:150295400-150321200	Strong transcription	Fetal Stomach	stomach
3	chr1:150295400-150329600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:150295600-150321400	Strong transcription	Fetal Intestine Small	intestine
5	chr1:150295600-150328200	Strong transcription	Primary B cells from peripheral blood	blood
6	chr1:150295800-150329800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:150296000-150329800	Strong transcription	Fetal Intestine Large	intestine
8	chr1:150296000-150329800	Strong transcription	Fetal Thymus	thymus
9	chr1:150296200-150326800	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:150296400-150328600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:150296400-150328600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:150296600-150322400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:150296600-150326800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:150296600-150327200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:150296600-150327200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr1:150296600-150328400	Strong transcription	Placenta	Placenta
17	chr1:150296600-150328600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:150296600-150328600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:150296600-150328800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:150296600-150329600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr1:150296800-150319800	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr1:150296800-150321600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
23	chr1:150296800-150323200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:150296800-150328400	Strong transcription	Liver	Liver
25	chr1:150296800-150328600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:150296800-150328600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr1:150296800-150328600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:150296800-150329800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:150297000-150328000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:150297000-150328200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr1:150297000-150328600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr1:150297000-150330000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:150297000-150330800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:150297200-150321800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr1:150297200-150326600	Strong transcription	Fetal Lung	lung
36	chr1:150297200-150328400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:150297200-150329200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr1:150297200-150329600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:150297400-150314000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr1:150297400-150314400	Strong transcription	Colon Smooth Muscle	Colon
41	chr1:150297400-150315200	Strong transcription	Lung	lung
42	chr1:150297400-150317000	Strong transcription	Ovary	ovary
43	chr1:150297400-150321600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr1:150297400-150322200	Strong transcription	Brain Germinal Matrix	brain
45	chr1:150297400-150322200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:150297400-150322200	Strong transcription	Fetal Brain Female	brain
47	chr1:150297400-150322200	Strong transcription	NH-A	brain
48	chr1:150297400-150322200	Strong transcription	Osteobl	bone
49	chr1:150297400-150324600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:150297400-150327600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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