Variant report

Variant	rs4970979
Chromosome Location	chr1:150483840-150483841
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150458274..150463765-chr1:150483214..150490747,8	K562	blood:
2	chr1:150482969..150486051-chr1:150520372..150524446,3	K562	blood:

Variant related genes	Relation type
ENSG00000143382	Chromatin interaction
ENSG00000264553	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000143374	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10888583	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10888584	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11205370	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11205371	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11205373	0.81[EUR][1000 genomes]
rs11205375	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11205382	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11205384	0.84[AMR][1000 genomes]
rs11205387	0.94[ASN][1000 genomes]
rs11581786	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12023277	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12031973	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12049177	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1260391	0.81[AMR][1000 genomes]
rs1260419	0.83[AMR][1000 genomes]
rs1260420	0.83[AMR][1000 genomes]
rs1260424	0.83[AMR][1000 genomes]
rs1262432	0.83[AMR][1000 genomes]
rs12731296	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12736375	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1566225	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1776270	0.80[AMR][1000 genomes]
rs1815545	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1932934	0.84[EUR][1000 genomes]
rs2012751	0.87[AMR][1000 genomes]
rs2133129	0.81[AMR][1000 genomes]
rs2264417	0.83[AMR][1000 genomes]
rs2275246	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35705743	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35784258	0.82[AMR][1000 genomes]
rs3754214	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3754217	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3850844	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4446975	0.85[EUR][1000 genomes]
rs4451552	0.85[EUR][1000 genomes]
rs4926395	0.81[EUR][1000 genomes]
rs4926435	0.88[AMR][1000 genomes]
rs4970922	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4970963	0.82[ASN][1000 genomes]
rs4970964	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4970971	0.85[EUR][1000 genomes]
rs5011187	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6664703	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6678973	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6684939	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6687311	0.86[AMR][1000 genomes]
rs6699093	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs696617	0.82[AMR][1000 genomes]
rs698920	0.83[AMR][1000 genomes]
rs698921	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs698922	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7411534	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7513182	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7513247	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7553647	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs832621	0.81[EUR][1000 genomes]
rs834235	0.83[AMR][1000 genomes]
rs834237	0.83[AMR][1000 genomes]
rs834238	0.83[AMR][1000 genomes]
rs863862	0.81[AMR][1000 genomes]
rs875514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9436009	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9436010	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9436116	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9436118	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9436120	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9436122	0.80[ASN][1000 genomes]
rs9661040	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4970979	MRPS21	cis	lung	GTEx
rs4970979	MRPS21	cis	Thyroid	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
2	chr1:150462000-150485800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:150471800-150487400	Weak transcription	Fetal Brain Male	brain
4	chr1:150475000-150485400	Strong transcription	Fetal Brain Female	brain
5	chr1:150476200-150486200	Strong transcription	Ovary	ovary
6	chr1:150477800-150487400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:150478200-150487400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:150478800-150487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:150478800-150487400	Weak transcription	Psoas Muscle	Psoas
10	chr1:150478800-150487600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:150479000-150484200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:150479000-150487400	Weak transcription	Fetal Lung	lung
13	chr1:150479000-150487600	Weak transcription	Aorta	Aorta
14	chr1:150479400-150487400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:150479400-150487600	Weak transcription	Fetal Kidney	kidney
16	chr1:150479600-150487200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:150479600-150487200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:150479600-150487400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:150479600-150487400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:150479600-150487400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:150479600-150487400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:150479600-150487400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:150479600-150487400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:150479600-150487400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:150479600-150487600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:150479800-150485600	Weak transcription	Fetal Thymus	thymus
27	chr1:150479800-150487200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:150479800-150487400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:150479800-150487400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr1:150480000-150487200	Weak transcription	Primary B cells from cord blood	blood
31	chr1:150480000-150487200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:150480200-150487200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:150480400-150485400	Genic enhancers	Spleen	Spleen
34	chr1:150480400-150487400	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:150480600-150487200	Weak transcription	Fetal Intestine Large	intestine
36	chr1:150480600-150487400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr1:150480800-150484200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:150480800-150485000	Transcr. at gene 5' and 3'	Esophagus	oesophagus
39	chr1:150480800-150487400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:150480800-150487400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:150480800-150487400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr1:150480800-150487400	Weak transcription	Dnd41	blood
43	chr1:150481000-150484200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr1:150481000-150484200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:150481000-150484400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:150481000-150485800	Weak transcription	HMEC	breast
47	chr1:150481000-150486200	Weak transcription	HepG2	liver
48	chr1:150481000-150487200	Weak transcription	Thymus	Thymus
49	chr1:150481000-150487400	Weak transcription	A549	lung
50	chr1:150481000-150487400	Weak transcription	Monocytes-CD14+_RO01746	blood

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