Variant report

Variant	rs7521042
Chromosome Location	chr1:78164339-78164340
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78161787..78164582-chr1:78467867..78470552,2	K562	blood:
2	chr1:78161944..78164582-chr1:78468935..78470552,2	K562	blood:

Variant related genes	Relation type
ENSG00000273338	Chromatin interaction
ENSG00000162616	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1038983	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10873951	0.86[ASN][1000 genomes]
rs11162365	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11162366	0.84[EUR][1000 genomes]
rs11162369	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11162372	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11162380	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11578805	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1166584	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12026939	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12128041	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12142671	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12717767	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1565852	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1977900	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2147318	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2274123	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs278833	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs278836	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs278838	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs278843	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs278845	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs278847	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs278852	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs278854	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs278857	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs278858	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs278859	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs278862	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs278864	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs366467	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs370335	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs371076	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4949661	0.85[EUR][1000 genomes]
rs4949814	0.84[EUR][1000 genomes]
rs4949816	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4949822	0.82[AMR][1000 genomes]
rs5025902	0.81[ASN][1000 genomes]
rs6603955	0.85[EUR][1000 genomes]
rs6603956	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6657290	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6670660	0.85[EUR][1000 genomes]
rs6672200	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6674638	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6691317	0.85[EUR][1000 genomes]
rs6693100	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6698151	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7513619	0.85[ASN][1000 genomes]
rs7545175	0.85[EUR][1000 genomes]
rs7552291	0.82[EUR][1000 genomes]
rs9662527	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
6	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7521042	USP33	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78149600-78175000	Weak transcription	Gastric	stomach
2	chr1:78149600-78177800	Weak transcription	Spleen	Spleen
3	chr1:78149800-78165600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:78149800-78165600	Weak transcription	Esophagus	oesophagus
5	chr1:78149800-78165600	Weak transcription	Lung	lung
6	chr1:78149800-78171800	Weak transcription	Fetal Brain Male	brain
7	chr1:78149800-78173000	Weak transcription	Colonic Mucosa	Colon
8	chr1:78149800-78173800	Weak transcription	Aorta	Aorta
9	chr1:78149800-78178000	Weak transcription	Small Intestine	intestine
10	chr1:78150000-78165200	Weak transcription	Brain Angular Gyrus	brain
11	chr1:78150000-78166000	Weak transcription	HSMMtube	muscle
12	chr1:78150000-78172800	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:78150000-78173000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr1:78150000-78173000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:78150000-78173600	Weak transcription	Psoas Muscle	Psoas
16	chr1:78150000-78174000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:78150000-78175600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:78150200-78170400	Weak transcription	HUVEC	blood vessel
19	chr1:78150200-78172600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:78150200-78173400	Weak transcription	HMEC	breast
21	chr1:78150200-78175600	Weak transcription	Brain Substantia Nigra	brain
22	chr1:78150400-78165000	Weak transcription	Brain Anterior Caudate	brain
23	chr1:78150400-78165600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:78150400-78172400	Weak transcription	Hela-S3	cervix
25	chr1:78150400-78174000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:78150600-78165000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr1:78150800-78170400	Weak transcription	K562	blood
28	chr1:78151200-78165400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:78151200-78165600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:78151200-78172400	Weak transcription	A549	lung
31	chr1:78151400-78172400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:78153400-78165000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:78153400-78175600	Weak transcription	HepG2	liver
34	chr1:78153600-78173600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:78153800-78165000	Weak transcription	Thymus	Thymus
36	chr1:78153800-78165400	Weak transcription	Fetal Kidney	kidney
37	chr1:78153800-78165600	Weak transcription	Ovary	ovary
38	chr1:78153800-78168200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:78153800-78173000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:78153800-78173000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:78153800-78173800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:78153800-78173800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:78153800-78174600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:78153800-78175400	Weak transcription	NHEK	skin
45	chr1:78153800-78177000	Weak transcription	Right Ventricle	heart
46	chr1:78153800-78178000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:78154000-78165600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:78154000-78167200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:78154000-78173600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:78154000-78173800	Weak transcription	H1 Cell Line	embryonic stem cell

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