Variant report

Variant	rs834243
Chromosome Location	chr1:150339290-150339291
allele	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	chr1:150292363..150295488-chr1:150335350..150339295,4	K562	blood:
2	chr1:150339029..150341486-chr1:150354364..150356096,2	MCF-7	breast:
3	chr1:150339168..150340156-chr1:150402020..150402622,3	MCF-7	breast:
4	chr1:150205245..150207369-chr1:150337736..150339520,2	MCF-7	breast:
5	chr1:150337553..150340155-chr11:65265008..65266738,2	MCF-7	breast:
6	chr1:150203436..150211066-chr1:150333611..150339492,20	K562	blood:
7	chr1:149856073..149860566-chr1:150334860..150339370,4	K562	blood:
8	chr1:150324607..150326424-chr1:150338818..150340910,2	K562	blood:
9	chr1:150291489..150302169-chr1:150333998..150340807,28	MCF-7	breast:
10	chr1:150292375..150296656-chr1:150333833..150339442,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117360	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000222222	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000143401	Chromatin interaction

Extended variants
information (count: 244 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:243)

rs_ID	r²[population]
rs10157197	0.82[EUR][1000 genomes]
rs10888578	0.88[EUR][1000 genomes]
rs10888579	0.89[EUR][1000 genomes]
rs10888583	0.85[EUR][1000 genomes]
rs1097066	0.98[EUR][1000 genomes]
rs1097067	0.93[ASN][1000 genomes]
rs1097068	0.93[ASN][1000 genomes]
rs1097069	0.99[EUR][1000 genomes]
rs1097070	0.93[ASN][1000 genomes]
rs1097071	0.96[EUR][1000 genomes]
rs1103115	0.96[ASN][1000 genomes]
rs11205355	0.82[EUR][1000 genomes]
rs11205357	0.83[ASN][1000 genomes]
rs11205359	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11205370	0.88[EUR][1000 genomes]
rs11205371	0.88[EUR][1000 genomes]
rs11205373	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11205375	0.88[EUR][1000 genomes]
rs11205382	0.85[EUR][1000 genomes]
rs1122967	0.83[ASN][1000 genomes]
rs1145583	0.96[ASN][1000 genomes]
rs11577600	0.91[ASN][1000 genomes]
rs11577843	0.92[ASN][1000 genomes]
rs11581351	0.86[ASN][1000 genomes]
rs11581786	0.87[EUR][1000 genomes]
rs11587116	0.84[ASN][1000 genomes]
rs11587575	0.83[ASN][1000 genomes]
rs11587758	0.96[ASN][1000 genomes]
rs11590324	0.83[ASN][1000 genomes]
rs11590406	0.88[EUR][1000 genomes]
rs11590787	0.92[ASN][1000 genomes]
rs11811885	0.90[EUR][1000 genomes]
rs12023277	0.80[EUR][1000 genomes]
rs12023378	0.84[ASN][1000 genomes]
rs12028001	0.91[ASN][1000 genomes]
rs12040949	0.85[ASN][1000 genomes]
rs12042229	0.85[ASN][1000 genomes]
rs12042579	0.86[ASN][1000 genomes]
rs12045304	0.92[ASN][1000 genomes]
rs12046446	0.84[ASN][1000 genomes]
rs12093148	0.88[EUR][1000 genomes]
rs1260367	0.96[ASN][1000 genomes]
rs1260368	0.96[ASN][1000 genomes]
rs1260373	0.98[EUR][1000 genomes]
rs1260378	0.90[ASN][1000 genomes]
rs1260385	0.96[EUR][1000 genomes]
rs1260386	0.92[ASN][1000 genomes]
rs1260388	0.92[ASN][1000 genomes]
rs1260389	0.92[ASN][1000 genomes]
rs1260391	0.92[EUR][1000 genomes]
rs1260396	0.85[ASN][1000 genomes]
rs1260398	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260400	0.97[ASN][1000 genomes]
rs1260401	0.94[EUR][1000 genomes]
rs1260403	0.96[EUR][1000 genomes]
rs1260404	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1260405	0.95[ASN][1000 genomes]
rs1260406	0.95[ASN][1000 genomes]
rs1260407	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1260408	0.96[EUR][1000 genomes]
rs1260409	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1260411	0.92[ASN][1000 genomes]
rs1260419	0.86[EUR][1000 genomes]
rs1260420	0.88[EUR][1000 genomes]
rs1260421	0.92[ASN][1000 genomes]
rs1260422	0.88[ASN][1000 genomes]
rs1260424	0.93[EUR][1000 genomes]
rs1260457	0.97[EUR][1000 genomes]
rs1260458	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1260459	0.96[ASN][1000 genomes]
rs1262432	0.92[EUR][1000 genomes]
rs12731296	0.88[EUR][1000 genomes]
rs12736375	0.88[EUR][1000 genomes]
rs12739706	0.88[EUR][1000 genomes]
rs12747669	0.80[EUR][1000 genomes]
rs1313568	0.99[EUR][1000 genomes]
rs1313569	0.99[EUR][1000 genomes]
rs1313570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1498308	0.93[ASN][1000 genomes]
rs1566225	0.86[EUR][1000 genomes]
rs1617829	0.88[ASN][1000 genomes]
rs1625468	0.96[ASN][1000 genomes]
rs1627235	0.92[ASN][1000 genomes]
rs1631973	0.90[ASN][1000 genomes]
rs1694362	0.92[ASN][1000 genomes]
rs1694363	0.84[ASN][1000 genomes]
rs1694364	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1694369	0.96[ASN][1000 genomes]
rs1694370	0.81[ASN][1000 genomes]
rs1694375	0.83[ASN][1000 genomes]
rs1694377	0.91[ASN][1000 genomes]
rs1694379	0.94[EUR][1000 genomes]
rs1694380	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1694381	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1694385	0.92[ASN][1000 genomes]
rs1694386	0.90[EUR][1000 genomes]
rs1694390	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1747927	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17596326	0.86[ASN][1000 genomes]
rs17597088	0.83[ASN][1000 genomes]
rs1776265	0.95[EUR][1000 genomes]
rs1776270	0.83[EUR][1000 genomes]
rs1776272	0.96[EUR][1000 genomes]
rs1776273	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1776274	0.83[ASN][1000 genomes]
rs1776275	0.90[EUR][1000 genomes]
rs1776276	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1932934	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1972031	0.86[ASN][1000 genomes]
rs2133129	0.96[EUR][1000 genomes]
rs2147324	0.82[ASN][1000 genomes]
rs2264417	0.92[EUR][1000 genomes]
rs2264418	0.92[ASN][1000 genomes]
rs2274127	0.82[ASN][1000 genomes]
rs2275246	0.84[EUR][1000 genomes]
rs2454285	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2454286	0.93[ASN][1000 genomes]
rs2477121	0.85[ASN][1000 genomes]
rs2762860	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2794614	0.89[ASN][1000 genomes]
rs2794615	0.90[ASN][1000 genomes]
rs2794678	0.96[ASN][1000 genomes]
rs2794679	0.96[ASN][1000 genomes]
rs2794680	0.90[EUR][1000 genomes]
rs2794681	0.96[ASN][1000 genomes]
rs2794682	0.94[ASN][1000 genomes]
rs2794684	0.95[ASN][1000 genomes]
rs2794685	0.95[ASN][1000 genomes]
rs2797653	0.96[ASN][1000 genomes]
rs2867893	0.84[ASN][1000 genomes]
rs2867894	0.84[ASN][1000 genomes]
rs2873669	0.88[ASN][1000 genomes]
rs3125808	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35057759	0.92[ASN][1000 genomes]
rs35705743	0.84[EUR][1000 genomes]
rs35784258	0.86[EUR][1000 genomes]
rs35915849	0.83[EUR][1000 genomes]
rs3818978	0.89[EUR][1000 genomes]
rs3820544	0.84[ASN][1000 genomes]
rs3850844	0.87[EUR][1000 genomes]
rs3896342	0.88[ASN][1000 genomes]
rs4333886	0.91[ASN][1000 genomes]
rs4446975	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4451552	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs45595332	0.84[ASN][1000 genomes]
rs4581308	0.85[ASN][1000 genomes]
rs471464	0.84[ASN][1000 genomes]
rs471738	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs486275	0.89[ASN][1000 genomes]
rs488271	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4926394	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4926395	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4926422	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4926435	0.84[EUR][1000 genomes]
rs4926436	0.88[ASN][1000 genomes]
rs4926437	0.86[ASN][1000 genomes]
rs494041	0.83[EUR][1000 genomes]
rs494952	0.85[EUR][1000 genomes]
rs4970922	0.84[EUR][1000 genomes]
rs4970964	0.84[EUR][1000 genomes]
rs4970971	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs497128	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5011187	0.87[EUR][1000 genomes]
rs509345	0.86[ASN][1000 genomes]
rs519126	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs521607	0.89[ASN][1000 genomes]
rs522435	0.88[ASN][1000 genomes]
rs543179	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55742549	0.92[ASN][1000 genomes]
rs55823828	0.84[ASN][1000 genomes]
rs56214461	0.91[ASN][1000 genomes]
rs573351	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs578353	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs580060	0.85[ASN][1000 genomes]
rs580159	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61819386	0.84[ASN][1000 genomes]
rs6662108	0.88[ASN][1000 genomes]
rs6664703	0.83[EUR][1000 genomes]
rs6672808	0.88[ASN][1000 genomes]
rs6678973	0.87[EUR][1000 genomes]
rs6684939	0.85[EUR][1000 genomes]
rs6685252	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6693697	0.81[EUR][1000 genomes]
rs6699093	0.85[EUR][1000 genomes]
rs6703652	0.84[ASN][1000 genomes]
rs696615	1.00[EUR][1000 genomes]
rs696616	0.95[ASN][1000 genomes]
rs696617	0.89[EUR][1000 genomes]
rs698914	0.95[EUR][1000 genomes]
rs698916	0.92[ASN][1000 genomes]
rs698917	0.97[EUR][1000 genomes]
rs698918	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs698919	0.92[ASN][1000 genomes]
rs698920	0.81[EUR][1000 genomes]
rs698921	0.89[EUR][1000 genomes]
rs698922	0.89[EUR][1000 genomes]
rs698923	0.90[ASN][1000 genomes]
rs7002	0.85[ASN][1000 genomes]
rs72696885	0.85[ASN][1000 genomes]
rs72696900	0.88[ASN][1000 genomes]
rs7411534	0.84[EUR][1000 genomes]
rs7512552	0.83[ASN][1000 genomes]
rs7513182	0.85[EUR][1000 genomes]
rs7513205	0.83[ASN][1000 genomes]
rs7517441	0.91[ASN][1000 genomes]
rs7523428	0.86[ASN][1000 genomes]
rs7538981	0.84[ASN][1000 genomes]
rs7539458	0.86[ASN][1000 genomes]
rs7544900	0.90[EUR][1000 genomes]
rs7553867	0.83[ASN][1000 genomes]
rs7554686	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8006	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs828783	0.90[ASN][1000 genomes]
rs828784	0.99[EUR][1000 genomes]
rs832621	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs832622	0.92[ASN][1000 genomes]
rs834225	0.95[EUR][1000 genomes]
rs834228	0.88[ASN][1000 genomes]
rs834229	0.92[ASN][1000 genomes]
rs834230	0.92[ASN][1000 genomes]
rs834231	0.92[ASN][1000 genomes]
rs834232	0.93[ASN][1000 genomes]
rs834233	0.90[ASN][1000 genomes]
rs834234	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs834235	0.93[EUR][1000 genomes]
rs834236	0.92[ASN][1000 genomes]
rs834237	0.92[EUR][1000 genomes]
rs834238	0.93[EUR][1000 genomes]
rs834241	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs834242	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs844309	0.92[ASN][1000 genomes]
rs863862	0.96[EUR][1000 genomes]
rs9126	0.88[EUR][1000 genomes]
rs9435997	0.91[ASN][1000 genomes]
rs9436007	0.84[ASN][1000 genomes]
rs9436008	0.86[ASN][1000 genomes]
rs9436009	0.83[EUR][1000 genomes]
rs9436108	0.90[ASN][1000 genomes]
rs9436112	0.92[ASN][1000 genomes]
rs9436115	0.86[ASN][1000 genomes]
rs9436116	0.83[EUR][1000 genomes]
rs9436118	0.84[EUR][1000 genomes]
rs9436119	0.84[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs834243	MRPS21	cis	Heart Left Ventricle	GTEx
rs834243	MRPS21	cis	lung	GTEx
rs834243	MRPS21	cis	Thyroid	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150334800-150339800	Active TSS	Thymus	Thymus
2	chr1:150335200-150339400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr1:150335200-150339600	Active TSS	Stomach Smooth Muscle	stomach
4	chr1:150335400-150339400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:150335400-150339400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:150335400-150339400	Active TSS	Pancreas	Pancrea
7	chr1:150335400-150339600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr1:150335400-150339600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:150335400-150339600	Active TSS	Fetal Intestine Small	intestine
10	chr1:150335400-150339600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr1:150335600-150339400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr1:150335600-150339600	Active TSS	Aorta	Aorta
13	chr1:150335600-150339600	Active TSS	Left Ventricle	heart
14	chr1:150335600-150339600	Active TSS	Ovary	ovary
15	chr1:150335600-150339600	Active TSS	Psoas Muscle	Psoas
16	chr1:150335600-150339600	Active TSS	Right Atrium	heart
17	chr1:150335600-150339800	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:150335600-150339800	Active TSS	Right Ventricle	heart
19	chr1:150335600-150340000	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:150335600-150340000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr1:150335800-150339400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:150335800-150339400	Active TSS	Primary T cells fromperipheralblood	blood
23	chr1:150335800-150339400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:150335800-150339400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:150335800-150339600	Active TSS	H1 Cell Line	embryonic stem cell
26	chr1:150335800-150339600	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr1:150335800-150339600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:150335800-150339600	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr1:150335800-150339600	Active TSS	Fetal Intestine Large	intestine
30	chr1:150335800-150339600	Active TSS	Fetal Stomach	stomach
31	chr1:150335800-150339600	Active TSS	Fetal Thymus	thymus
32	chr1:150335800-150339600	Active TSS	HSMMtube	muscle
33	chr1:150335800-150339800	Active TSS	NHDF-Ad	bronchial
34	chr1:150335800-150340000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:150335800-150340000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:150335800-150340000	Active TSS	HMEC	breast
37	chr1:150335800-150340000	Active TSS	K562	blood
38	chr1:150335800-150340200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:150335800-150340600	Active TSS	GM12878-XiMat	blood
40	chr1:150336000-150339400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:150336000-150339400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:150336000-150339400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:150336000-150339600	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr1:150336000-150339600	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr1:150336000-150339600	Active TSS	Brain Angular Gyrus	brain
46	chr1:150336000-150339800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:150336000-150340000	Active TSS	A549	lung
48	chr1:150336000-150340000	Active TSS	NHLF	lung
49	chr1:150336000-150340400	Active TSS	Hela-S3	cervix
50	chr1:150336200-150339400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links