Variant report

Variant	rs11587758
Chromosome Location	chr1:150327106-150327107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150325534..150329741-chr1:150331165..150334243,4	MCF-7	breast:
2	chr1:150314701..150316382-chr1:150326014..150328018,2	K562	blood:
3	chr1:150322416..150329853-chr1:150334337..150340134,8	MCF-7	breast:
4	chr1:150323928..150327904-chr1:150334060..150337308,4	K562	blood:
5	chr1:150325867..150328035-chr1:150335218..150337437,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117360	Chromatin interaction
ENSG00000163125	Chromatin interaction

Extended variants
information (count: 168 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:167)

rs_ID	r²[population]
rs1097067	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1097068	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1097070	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1103115	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205357	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11205359	0.87[ASN][1000 genomes]
rs11205373	0.94[ASN][1000 genomes]
rs11205385	0.83[ASN][1000 genomes]
rs1122967	0.85[ASN][1000 genomes]
rs1145583	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577600	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11577843	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11581351	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11587116	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11587575	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11590324	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11590787	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12023378	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12028001	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12040949	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12042229	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12042579	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12045304	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12046446	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1260367	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1260368	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1260378	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1260386	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1260388	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1260389	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1260394	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1260396	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1260398	0.87[ASN][1000 genomes]
rs1260400	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1260404	0.97[ASN][1000 genomes]
rs1260405	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1260406	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1260407	0.97[ASN][1000 genomes]
rs1260409	0.95[ASN][1000 genomes]
rs1260411	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1260421	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1260422	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1260458	0.98[ASN][1000 genomes]
rs1260459	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1313570	0.98[ASN][1000 genomes]
rs1498308	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1614039	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1617829	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1625468	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1627235	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1631973	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1694362	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1694363	0.88[ASN][1000 genomes]
rs1694364	0.98[ASN][1000 genomes]
rs1694369	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1694370	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1694375	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1694377	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1694380	0.93[ASN][1000 genomes]
rs1694381	0.94[ASN][1000 genomes]
rs1694385	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1694390	0.92[ASN][1000 genomes]
rs1747927	0.93[ASN][1000 genomes]
rs17596326	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17597088	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1776273	0.85[ASN][1000 genomes]
rs1776274	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1776276	0.91[ASN][1000 genomes]
rs1932934	0.85[ASN][1000 genomes]
rs1972031	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2147324	0.84[ASN][1000 genomes]
rs2264418	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274127	0.84[ASN][1000 genomes]
rs2454285	0.92[ASN][1000 genomes]
rs2454286	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2477121	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2762860	0.82[ASN][1000 genomes]
rs2794614	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2794615	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2794678	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794679	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794681	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794682	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2794684	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2794685	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797653	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2867893	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2867894	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2873669	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3125808	0.97[ASN][1000 genomes]
rs35057759	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3738487	0.83[ASN][1000 genomes]
rs3820544	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3896342	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4333886	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4446975	0.86[ASN][1000 genomes]
rs4451552	0.86[ASN][1000 genomes]
rs45595332	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4581308	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs471464	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs471738	0.87[ASN][1000 genomes]
rs486275	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs488271	0.93[ASN][1000 genomes]
rs4926394	0.94[ASN][1000 genomes]
rs4926395	0.94[ASN][1000 genomes]
rs4926422	0.97[ASN][1000 genomes]
rs4926436	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4926437	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4970971	0.86[ASN][1000 genomes]
rs500812	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs509345	0.88[ASN][1000 genomes]
rs519126	0.92[ASN][1000 genomes]
rs521607	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs522435	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs543179	0.85[ASN][1000 genomes]
rs55742549	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55823828	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs55928222	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55996928	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56214461	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs578353	0.93[ASN][1000 genomes]
rs580060	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs580159	0.87[ASN][1000 genomes]
rs61819386	0.84[ASN][1000 genomes]
rs6662108	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6672808	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6685252	0.84[ASN][1000 genomes]
rs6703652	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs696616	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs698916	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs698918	0.96[ASN][1000 genomes]
rs698919	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs698923	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7002	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72696885	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72696900	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7512552	0.85[ASN][1000 genomes]
rs7513205	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7517441	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7523428	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7538981	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7539458	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7553867	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7554686	0.83[ASN][1000 genomes]
rs8006	0.87[ASN][1000 genomes]
rs828783	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs832621	0.94[ASN][1000 genomes]
rs832622	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs834228	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs834229	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs834230	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs834231	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs834232	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs834233	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs834234	0.96[ASN][1000 genomes]
rs834236	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs834241	0.94[ASN][1000 genomes]
rs834242	0.94[ASN][1000 genomes]
rs834243	0.96[ASN][1000 genomes]
rs844309	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9435997	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9436007	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9436008	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9436108	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9436112	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9436115	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9436119	0.87[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
rs11587758	MRPS21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 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	chr1:150295400-150329600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:150295600-150328200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr1:150295800-150329800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:150296000-150329800	Strong transcription	Fetal Intestine Large	intestine
6	chr1:150296000-150329800	Strong transcription	Fetal Thymus	thymus
7	chr1:150296400-150328600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:150296400-150328600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:150296600-150327200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:150296600-150327200	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr1:150296600-150328400	Strong transcription	Placenta	Placenta
12	chr1:150296600-150328600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:150296600-150328600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:150296600-150328800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:150296600-150329600	Strong transcription	Fetal Muscle Trunk	muscle
16	chr1:150296800-150328400	Strong transcription	Liver	Liver
17	chr1:150296800-150328600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:150296800-150328600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr1:150296800-150328600	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:150296800-150329800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:150297000-150328000	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:150297000-150328200	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr1:150297000-150328600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:150297000-150330000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:150297000-150330800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:150297200-150328400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:150297200-150329200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:150297200-150329600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:150297400-150327600	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:150297400-150327600	Strong transcription	Thymus	Thymus
31	chr1:150297400-150327800	Strong transcription	Fetal Muscle Leg	muscle
32	chr1:150297400-150328000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:150297400-150328000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr1:150297400-150328200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:150297400-150328600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:150297400-150328600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:150297400-150329000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:150297400-150329600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:150298000-150328600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:150298600-150328400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:150300600-150328000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:150300800-150328000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:150303800-150327600	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:150305200-150328000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:150305600-150336200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:150308200-150335600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr1:150314000-150335200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr1:150314800-150328000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr1:150317800-150327600	Strong transcription	Lung	lung
50	chr1:150319000-150335200	Weak transcription	Stomach Mucosa	stomach

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