Variant report

Variant	rs45595332
Chromosome Location	chr1:150446067-150446068
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150444253..150446450-chr1:150524781..150526459,2	MCF-7	breast:
2	chr1:150336027..150337761-chr1:150445451..150447777,4	MCF-7	breast:
3	chr1:150445355..150447262-chr1:150481016..150482567,2	K562	blood:
4	chr1:150445504..150448744-chr1:150458410..150461712,4	MCF-7	breast:
5	chr1:150320576..150322982-chr1:150444540..150446368,2	MCF-7	breast:
6	chr1:150444025..150446244-chr1:150455724..150457707,2	MCF-7	breast:
7	chr1:150445243..150447699-chr1:150521039..150523176,2	K562	blood:
8	chr1:150443594..150446191-chr1:150534079..150536704,3	K562	blood:
9	chr1:150436574..150438712-chr1:150444665..150447303,2	MCF-7	breast:
10	chr1:150438167..150440380-chr1:150446055..150448397,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163125	Chromatin interaction
ENSG00000117360	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000143369	Chromatin interaction
ENSG00000143382	Chromatin interaction
ENSG00000225996	Chromatin interaction

Extended variants
information (count: 147 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs1097067	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1097068	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1097070	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1103115	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11205357	0.81[AMR][1000 genomes]
rs11205373	0.90[ASN][1000 genomes]
rs11205385	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1145583	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11577600	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11577843	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11581351	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11587116	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11587575	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11587758	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11590324	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11590787	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12023378	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12028001	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12040949	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12042229	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12042579	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12045304	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12046446	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1260367	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1260368	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1260378	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1260386	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1260388	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1260389	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1260400	0.85[ASN][1000 genomes]
rs1260404	0.85[ASN][1000 genomes]
rs1260405	0.87[ASN][1000 genomes]
rs1260406	0.87[ASN][1000 genomes]
rs1260407	0.85[ASN][1000 genomes]
rs1260409	0.83[ASN][1000 genomes]
rs1260411	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1260421	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1260422	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1260458	0.86[ASN][1000 genomes]
rs1260459	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1313570	0.86[ASN][1000 genomes]
rs13294	0.81[ASN][1000 genomes]
rs1498308	0.85[ASN][1000 genomes]
rs1617829	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1625468	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1627235	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1631973	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1694362	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1694363	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1694364	0.86[ASN][1000 genomes]
rs1694369	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1694377	0.83[ASN][1000 genomes]
rs1694380	0.82[ASN][1000 genomes]
rs1694381	0.83[ASN][1000 genomes]
rs1694385	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1694390	0.88[ASN][1000 genomes]
rs1747927	0.82[ASN][1000 genomes]
rs17596326	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17597088	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1815544	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1932934	0.95[ASN][1000 genomes]
rs1972031	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2264418	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2454285	0.81[ASN][1000 genomes]
rs2454286	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2794614	0.82[ASN][1000 genomes]
rs2794615	0.83[ASN][1000 genomes]
rs2794678	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2794679	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2794681	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2794682	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2794684	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2794685	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2797653	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2867893	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2867894	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2873669	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3125808	0.85[ASN][1000 genomes]
rs35057759	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3738487	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3820544	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3896342	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4333886	0.83[ASN][1000 genomes]
rs4446975	0.96[ASN][1000 genomes]
rs4451552	0.96[ASN][1000 genomes]
rs486275	0.82[ASN][1000 genomes]
rs488271	0.82[ASN][1000 genomes]
rs4926394	0.90[ASN][1000 genomes]
rs4926395	0.90[ASN][1000 genomes]
rs4926422	0.85[ASN][1000 genomes]
rs4926436	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4926437	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4970971	0.96[ASN][1000 genomes]
rs519126	0.81[ASN][1000 genomes]
rs521607	0.82[ASN][1000 genomes]
rs55742549	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55823828	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55928222	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55996928	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56214461	0.83[ASN][1000 genomes]
rs578353	0.82[ASN][1000 genomes]
rs59898460	0.84[AMR][1000 genomes]
rs61819386	0.93[ASN][1000 genomes]
rs6662108	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6672808	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6703652	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs696616	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs698916	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs698918	0.86[ASN][1000 genomes]
rs698919	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs698923	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7002	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72696885	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72696900	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7513205	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7517441	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7523428	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7538981	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7539458	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7548085	0.85[ASN][1000 genomes]
rs7553867	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs828783	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs832621	0.90[ASN][1000 genomes]
rs832622	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs834228	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs834229	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs834230	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs834231	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs834232	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs834233	0.87[ASN][1000 genomes]
rs834234	0.88[ASN][1000 genomes]
rs834236	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs834241	0.90[ASN][1000 genomes]
rs834242	0.90[ASN][1000 genomes]
rs834243	0.84[ASN][1000 genomes]
rs844309	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9435997	0.83[ASN][1000 genomes]
rs9436007	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9436008	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9436108	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9436112	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9436115	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9436119	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9436125	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9436127	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs45595332	MRPS21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150401400-150448200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:150411200-150446400	Strong transcription	Dnd41	blood
3	chr1:150413600-150446200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:150413600-150446400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr1:150414000-150446400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:150422800-150446400	Strong transcription	Fetal Stomach	stomach
7	chr1:150423800-150447200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:150424800-150446600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:150425200-150446200	Strong transcription	Fetal Muscle Trunk	muscle
10	chr1:150425800-150447000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:150426800-150446400	Strong transcription	Fetal Intestine Small	intestine
12	chr1:150428600-150446400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:150429600-150447000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:150433800-150446400	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:150435200-150446600	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr1:150435200-150447200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr1:150435600-150446400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:150436200-150447600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:150436800-150446600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:150437200-150446400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr1:150437400-150447200	Strong transcription	Fetal Thymus	thymus
22	chr1:150439400-150446600	Strong transcription	Primary T cells from cord blood	blood
23	chr1:150439400-150447000	Strong transcription	Fetal Brain Female	brain
24	chr1:150440600-150446800	Strong transcription	Primary B cells from cord blood	blood
25	chr1:150441600-150446600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:150442200-150446200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:150442200-150446200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:150442200-150446400	Strong transcription	Fetal Intestine Large	intestine
29	chr1:150442200-150446400	Strong transcription	HSMMtube	muscle
30	chr1:150442200-150446800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:150442200-150446800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr1:150442400-150446600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:150442400-150446800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:150442600-150446200	Strong transcription	Brain Anterior Caudate	brain
35	chr1:150442800-150446400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr1:150442800-150447200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:150443000-150446200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:150443000-150446400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:150443000-150446400	Strong transcription	Rectal Smooth Muscle	rectum
40	chr1:150443000-150446400	Strong transcription	NHLF	lung
41	chr1:150443200-150446400	Strong transcription	Brain Angular Gyrus	brain
42	chr1:150443200-150446400	Strong transcription	Esophagus	oesophagus
43	chr1:150443200-150446400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr1:150443200-150446400	Strong transcription	Osteobl	bone
45	chr1:150443200-150446600	Strong transcription	NHDF-Ad	bronchial
46	chr1:150443200-150446800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:150444800-150446200	Weak transcription	K562	blood
48	chr1:150444800-150447000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:150444800-150447200	Enhancers	Fetal Heart	heart
50	chr1:150444800-150459000	Weak transcription	GM12878-XiMat	blood

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