Variant report

Variant	rs73115380
Chromosome Location	chr1:221749509-221749510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10495165	0.82[AFR][1000 genomes]
rs10495166	0.82[AFR][1000 genomes]
rs10495167	0.82[AFR][1000 genomes]
rs10495168	0.82[AFR][1000 genomes]
rs11807981	1.00[EUR][1000 genomes]
rs12403055	0.82[AFR][1000 genomes]
rs12405504	0.82[AFR][1000 genomes]
rs12410562	0.82[AFR][1000 genomes]
rs17010272	0.87[AFR][1000 genomes]
rs17041852	0.87[AFR][1000 genomes]
rs17041853	0.87[AFR][1000 genomes]
rs35291151	1.00[EUR][1000 genomes]
rs56740608	1.00[AMR][1000 genomes]
rs57715531	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57764824	1.00[EUR][1000 genomes]
rs57966484	1.00[AMR][1000 genomes]
rs58002157	0.82[AFR][1000 genomes]
rs58467896	0.82[AFR][1000 genomes]
rs58516053	0.82[AFR][1000 genomes]
rs58659812	0.82[AFR][1000 genomes]
rs58696164	0.82[AFR][1000 genomes]
rs58909975	1.00[AMR][1000 genomes]
rs59465641	1.00[EUR][1000 genomes]
rs60888785	1.00[EUR][1000 genomes]
rs61551078	1.00[EUR][1000 genomes]
rs73100441	1.00[EUR][1000 genomes]
rs73100458	1.00[EUR][1000 genomes]
rs73106612	0.82[AFR][1000 genomes]
rs73106614	0.82[AFR][1000 genomes]
rs73106616	0.82[AFR][1000 genomes]
rs73106619	0.82[AFR][1000 genomes]
rs73106621	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73106624	0.82[AFR][1000 genomes]
rs73106634	0.87[AFR][1000 genomes]
rs73108905	1.00[AMR][1000 genomes]
rs73108910	1.00[AMR][1000 genomes]
rs73108925	1.00[AMR][1000 genomes]
rs73108947	1.00[AMR][1000 genomes]
rs73108957	1.00[AMR][1000 genomes]
rs73110047	1.00[EUR][1000 genomes]
rs73110074	1.00[EUR][1000 genomes]
rs73110077	1.00[EUR][1000 genomes]
rs73110082	1.00[EUR][1000 genomes]
rs73110084	1.00[EUR][1000 genomes]
rs73115363	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73115368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73115373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73115383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73117537	1.00[AMR][1000 genomes]
rs73117543	1.00[AMR][1000 genomes]
rs73117544	1.00[AMR][1000 genomes]
rs73119929	0.82[AFR][1000 genomes]
rs73119932	0.82[AFR][1000 genomes]
rs73119935	0.82[AFR][1000 genomes]
rs73119938	0.82[AFR][1000 genomes]
rs73119939	0.82[AFR][1000 genomes]
rs73119947	0.82[AFR][1000 genomes]
rs73119948	0.82[AFR][1000 genomes]
rs73121116	1.00[AMR][1000 genomes]
rs73121119	1.00[AMR][1000 genomes]
rs73121125	1.00[AMR][1000 genomes]
rs73123136	1.00[AMR][1000 genomes]
rs73123139	1.00[EUR][1000 genomes]
rs73123141	1.00[AMR][1000 genomes]
rs73123147	1.00[AMR][1000 genomes]
rs73123162	1.00[AMR][1000 genomes]
rs73123166	1.00[AMR][1000 genomes]
rs7355120	1.00[EUR][1000 genomes]
rs7552125	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1009838	chr1:221692621-221773945	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv535301	chr1:221692621-221773945	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1809909	chr1:221740539-221754260	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv2760080	chr1:221742890-221763387	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3452707	chr1:221743835-221754556	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3452709	chr1:221743953-221754426	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv11257	chr1:221743956-221754422	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1808490	chr1:221743979-221779026	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv1804329	chr1:221746038-221753597	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv1805310	chr1:221746038-221753597	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1807047	chr1:221746038-221756526	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1806301	chr1:221746050-221753609	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1806766	chr1:221746050-221753609	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv1807384	chr1:221746050-221753609	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv441739	chr1:221746050-221753609	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv2421475	chr1:221746050-221753645	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv1805810	chr1:221746140-221753981	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv1806865	chr1:221746140-221753981	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv1807648	chr1:221746140-221753981	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv1808522	chr1:221746140-221753981	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv1810177	chr1:221746140-221753981	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv1810412	chr1:221746140-221753981	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv1814839	chr1:221746140-221753981	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv1811498	chr1:221746140-221758568	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv1814250	chr1:221746140-221772404	Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	esv1810033	chr1:221747848-221753597	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	esv1813773	chr1:221747848-221756526	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221746800-221749600	Enhancers	Fetal Heart	heart
2	chr1:221748000-221750200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:221748200-221750200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:221748200-221750200	Enhancers	NH-A	brain
5	chr1:221748200-221750400	Enhancers	NHLF	lung
6	chr1:221749400-221749800	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:221749400-221750000	Enhancers	Colon Smooth Muscle	Colon

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