Variant report

Variant	rs17133554
Chromosome Location	chr7:3599108-3599109
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3598045..3599826-chr7:3607481..3609986,2	K562	blood:
2	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs10215541	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215554	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10215632	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10216009	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10227151	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236989	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10238783	0.84[ASN][1000 genomes]
rs10241070	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10243981	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10263702	0.83[ASN][1000 genomes]
rs10264275	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10272876	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277776	0.93[ASN][1000 genomes]
rs1114778	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1114779	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1114780	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11531491	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11531493	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12111969	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12670592	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12672248	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1403160	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1403161	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1522505	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1608136	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16870870	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16870900	0.80[ASN][1000 genomes]
rs17133426	0.82[AMR][1000 genomes]
rs17133432	0.82[AMR][1000 genomes]
rs17133439	0.83[AMR][1000 genomes]
rs17133445	0.83[AMR][1000 genomes]
rs17133497	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17133501	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17133520	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17133523	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17133529	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17133533	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17133535	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17133555	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17133566	0.94[ASN][1000 genomes]
rs17133591	0.80[ASN][1000 genomes]
rs1882427	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1882428	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1882429	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1922017	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1922019	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1991758	0.80[ASN][1000 genomes]
rs2016197	0.82[ASN][1000 genomes]
rs2141825	0.93[ASN][1000 genomes]
rs2177168	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2178626	0.93[ASN][1000 genomes]
rs2272526	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2272527	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28412607	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28451147	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28709062	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28832366	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35791987	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4291167	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4496870	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5022333	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs55878136	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55933090	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56134531	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56234403	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56329315	0.81[ASN][1000 genomes]
rs56341242	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56995955	0.80[ASN][1000 genomes]
rs57462209	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57480717	0.81[ASN][1000 genomes]
rs57704507	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57743735	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58028517	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58498999	0.81[ASN][1000 genomes]
rs58601265	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58748813	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58979693	0.80[EUR][1000 genomes]
rs59228270	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59465686	0.80[ASN][1000 genomes]
rs60268542	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60867986	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61425932	0.81[ASN][1000 genomes]
rs61605079	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6462126	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6462127	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6462128	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67253031	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67540761	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67955951	0.81[ASN][1000 genomes]
rs68004656	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68143552	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6947615	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6961261	0.80[ASN][1000 genomes]
rs6962132	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6966652	0.94[ASN][1000 genomes]
rs6971989	0.81[ASN][1000 genomes]
rs73035954	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73035962	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73035977	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73293551	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73671854	0.82[AMR][1000 genomes]
rs73673633	0.81[ASN][1000 genomes]
rs73673634	0.81[ASN][1000 genomes]
rs7779462	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7780340	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7782934	0.81[ASN][1000 genomes]
rs7787559	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7789656	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7791215	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7794992	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7795323	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7802868	0.81[ASN][1000 genomes]
rs7805283	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7805598	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7808972	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs957360	0.80[ASN][1000 genomes]
rs9638859	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9639598	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9654994	0.90[ASN][1000 genomes]
rs9771445	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2764026	chr7:3365002-3618361	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv916071	chr7:3423207-3697428	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1034716	chr7:3512406-3616155	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv887334	chr7:3531275-3635105	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1023888	chr7:3539750-3638242	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1034298	chr7:3539750-3646251	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1029264	chr7:3549193-3622532	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1032031	chr7:3554760-3609584	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv538675	chr7:3554760-3609584	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv464271	chr7:3556132-3605340	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv605905	chr7:3556132-3605340	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1025623	chr7:3558521-3606640	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv605906	chr7:3559826-3605340	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1027274	chr7:3561252-3602457	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv538676	chr7:3561252-3602457	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1034671	chr7:3565156-3607294	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv538677	chr7:3565156-3607294	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv1028274	chr7:3565356-3607155	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv538678	chr7:3565356-3607155	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv830888	chr7:3577214-3776276	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	esv1840932	chr7:3585560-3618827	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv1792280	chr7:3592290-3668229	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv605907	chr7:3598581-3614784	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv2460274	chr7:3599108-3599108	Active TSS Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3577600-3600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3595600-3599200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:3597400-3599800	Enhancers	Fetal Lung	lung
4	chr7:3597600-3599200	Enhancers	Fetal Stomach	stomach
5	chr7:3597600-3599600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:3597800-3599600	Enhancers	HSMM	muscle
7	chr7:3597800-3599800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:3597800-3600200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:3598000-3599800	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:3598200-3599200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:3598200-3599600	Enhancers	Adipose Nuclei	Adipose
12	chr7:3598400-3599600	Weak transcription	Fetal Muscle Leg	muscle
13	chr7:3598400-3600200	Weak transcription	Gastric	stomach
14	chr7:3598400-3600200	Weak transcription	Pancreas	Pancrea
15	chr7:3598400-3600600	Enhancers	Fetal Brain Male	brain
16	chr7:3598800-3599400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:3598800-3599600	Flanking Active TSS	HUVEC	blood vessel
18	chr7:3598800-3599600	Enhancers	NHEK	skin
19	chr7:3599000-3599200	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr7:3599000-3599200	Enhancers	Fetal Intestine Small	intestine
21	chr7:3599000-3599400	Active TSS	Muscle Satellite Cultured Cells	--
22	chr7:3599000-3599400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:3599000-3599400	Active TSS	HSMMtube	muscle

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