Variant report

Variant	rs60942590
Chromosome Location	chr3:53016421-53016422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53010212..53012138-chr3:53016313..53018065,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10510761	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11705797	0.82[ASN][1000 genomes]
rs11706035	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11707575	0.84[EUR][1000 genomes]
rs11707780	0.89[EUR][1000 genomes]
rs11708337	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11710292	0.84[EUR][1000 genomes]
rs11710394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710707	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11711773	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11712653	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11713171	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11713206	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11713324	0.84[AFR][1000 genomes]
rs11713376	0.82[ASN][1000 genomes]
rs11713479	0.84[AFR][1000 genomes]
rs11713859	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11714037	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11714876	0.84[EUR][1000 genomes]
rs11714902	0.84[EUR][1000 genomes]
rs11715231	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11715498	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11716506	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11716612	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11717132	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11717619	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11717715	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11718388	0.89[EUR][1000 genomes]
rs11718538	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11718752	0.84[EUR][1000 genomes]
rs11718834	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11720191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11720488	0.82[ASN][1000 genomes]
rs13058817	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13062228	0.82[ASN][1000 genomes]
rs13067373	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13069006	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13072395	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13072457	0.84[EUR][1000 genomes]
rs13072818	0.89[EUR][1000 genomes]
rs13074524	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13078834	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13078971	0.84[EUR][1000 genomes]
rs13084937	0.84[EUR][1000 genomes]
rs13085514	0.84[EUR][1000 genomes]
rs13085544	0.81[EUR][1000 genomes]
rs13089969	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13091844	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13092352	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13095705	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13320044	0.84[EUR][1000 genomes]
rs1346719	0.89[EUR][1000 genomes]
rs17052727	0.89[EUR][1000 genomes]
rs2336540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2336541	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2564926	0.82[EUR][1000 genomes]
rs2581807	0.82[EUR][1000 genomes]
rs3097417	0.82[EUR][1000 genomes]
rs34121720	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34238610	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34244302	0.84[EUR][1000 genomes]
rs34313969	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34340609	0.89[EUR][1000 genomes]
rs34493168	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34872575	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34933390	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34943350	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34979715	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35076015	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35163227	0.84[EUR][1000 genomes]
rs35174175	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35230793	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35378159	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35384050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35385050	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35404467	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35507120	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35569457	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs35720014	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35737577	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35849389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36090694	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36126605	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3733034	0.82[ASN][1000 genomes]
rs3733035	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs3796352	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3806692	0.89[EUR][1000 genomes]
rs3821872	0.89[EUR][1000 genomes]
rs4478072	0.84[EUR][1000 genomes]
rs4608686	0.92[AFR][1000 genomes]
rs56231111	0.88[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs58515094	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58660500	0.89[EUR][1000 genomes]
rs59583591	0.84[EUR][1000 genomes]
rs60887045	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61172708	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61473083	0.82[ASN][1000 genomes]
rs6445555	0.81[EUR][1000 genomes]
rs6445556	0.87[EUR][1000 genomes]
rs6445557	0.87[EUR][1000 genomes]
rs6762260	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs71299622	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71299700	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71301804	0.87[EUR][1000 genomes]
rs71301808	0.89[EUR][1000 genomes]
rs71301809	0.84[EUR][1000 genomes]
rs71301811	0.82[EUR][1000 genomes]
rs71301814	0.84[EUR][1000 genomes]
rs71617204	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73839535	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs750474	0.87[EUR][1000 genomes]
rs7622420	0.84[EUR][1000 genomes]
rs7625448	0.84[EUR][1000 genomes]
rs7640293	0.84[EUR][1000 genomes]
rs7645611	0.84[EUR][1000 genomes]
rs9756317	0.82[EUR][1000 genomes]
rs9875573	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv1818974	chr3:52966316-53096394	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv3823	chr3:53003659-53051063	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2756989	chr3:53006055-53039455	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2759149	chr3:53006055-53039455	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv998445	chr3:53008146-53023199	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1001449	chr3:53009379-53039104	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv998180	chr3:53011207-53039267	Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv1802390	chr3:53011741-53039205	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1008590	chr3:53011741-53039267	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1002814	chr3:53011741-53039665	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1011757	chr3:53012195-53039104	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60942590	TMEM110	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52965000-53039800	Weak transcription	Left Ventricle	heart
2	chr3:52977600-53017000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:52987200-53017400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:52987800-53017000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:52987800-53017000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr3:52993800-53016800	Weak transcription	Primary B cells from cord blood	blood
7	chr3:53002000-53017600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:53003400-53017000	Weak transcription	Dnd41	blood
9	chr3:53008400-53031000	Weak transcription	Hela-S3	cervix
10	chr3:53009800-53017600	Weak transcription	HepG2	liver
11	chr3:53012400-53017400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:53012600-53017600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:53012600-53019600	Weak transcription	Psoas Muscle	Psoas
14	chr3:53012600-53032600	Weak transcription	Pancreas	Pancrea
15	chr3:53014400-53017600	Weak transcription	Liver	Liver
16	chr3:53015600-53017000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:53015600-53017600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:53015800-53016600	Enhancers	Fetal Heart	heart
19	chr3:53015800-53017400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr3:53015800-53017800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:53015800-53018000	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr3:53016000-53017800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr3:53016000-53017800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr3:53016000-53019000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr3:53016000-53019800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr3:53016200-53017000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr3:53016200-53017800	Enhancers	Primary T cells from cord blood	blood
28	chr3:53016200-53019400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr3:53016200-53019800	Enhancers	Primary B cells from peripheral blood	blood
30	chr3:53016200-53029400	Weak transcription	Fetal Intestine Small	intestine

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