Variant report

Variant	rs4471550
Chromosome Location	chr13:39750811-39750812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11620043	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12870208	0.86[AMR][1000 genomes]
rs1333440	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1333441	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1333443	0.84[AFR][1000 genomes]
rs1333445	0.84[AMR][1000 genomes]
rs1930817	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1930818	0.87[AMR][1000 genomes]
rs1981060	0.87[AMR][1000 genomes]
rs1981061	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3927575	0.98[AFR][1000 genomes]
rs3927576	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3927577	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296143	0.97[AFR][1000 genomes]
rs7982609	0.86[AMR][1000 genomes]
rs7983684	0.86[AMR][1000 genomes]
rs7989681	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7992745	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7999969	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1048391	chr13:39735088-39832358	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1036124	chr13:39735088-39837566	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1047276	chr13:39735088-39839257	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3509263	chr13:39745852-39751850	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
6	esv1805490	chr13:39746260-39752044	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
7	esv1809236	chr13:39746260-39752044	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
8	esv1805783	chr13:39746260-39764128	Enhancers Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3509241	chr13:39747380-39751730	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
10	esv3509274	chr13:39747428-39751706	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
11	esv3509252	chr13:39747449-39751666	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
12	esv3509286	chr13:39747470-39751693	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
13	esv3509297	chr13:39747517-39751625	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
14	esv17002	chr13:39747517-39751641	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
15	esv2421658	chr13:39747763-39751136	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
16	nsv442668	chr13:39747763-39751136	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
17	esv1806677	chr13:39747792-39751227	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
18	esv1808468	chr13:39747792-39751227	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
19	esv1809237	chr13:39747792-39751227	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
20	esv1809760	chr13:39747792-39751227	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
21	esv1810988	chr13:39747792-39751227	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
22	esv1814503	chr13:39747792-39751227	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
23	esv1814939	chr13:39747792-39751227	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
24	esv1807665	chr13:39747792-39751612	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
25	esv1808475	chr13:39747792-39751612	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
26	esv1811993	chr13:39747792-39751612	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
27	esv1814014	chr13:39747792-39751612	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
28	esv1809485	chr13:39747792-39752044	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
29	esv1811846	chr13:39747792-39752044	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
30	esv1814292	chr13:39747792-39752044	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39739000-39764000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:39750800-39751000	Enhancers	Left Ventricle	heart

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