Variant report

Variant	rs7893515
Chromosome Location	chr10:49201772-49201773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs7893532	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7895826	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7914526	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758218	chr10:48593396-49299273	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv2759748	chr10:48593396-49299273	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1048083	chr10:48663587-49292521	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv895347	chr10:48664066-49299273	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1041008	chr10:48714571-49287591	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1051932	chr10:48714571-49292521	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1039125	chr10:48714571-49299273	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1045833	chr10:48722696-49292521	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1048052	chr10:48771938-49292521	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	TF binding region CpG island lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv895355	chr10:49002272-49201964	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv895352	chr10:49002272-49210024	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv895353	chr10:49002272-49210024	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv895354	chr10:49002272-49227624	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
14	esv1799719	chr10:49002272-49245227	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv1812360	chr10:49002272-49256217	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv1831372	chr10:49002272-49256217	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv1846492	chr10:49002272-49256217	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
18	esv1829098	chr10:49002272-49257969	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
19	esv1845539	chr10:49002272-49262927	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
20	esv1819051	chr10:49002272-49265711	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
21	esv1843433	chr10:49002272-49265711	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
22	esv1833079	chr10:49002272-49265911	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
23	esv1824063	chr10:49002272-49267477	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
24	esv1821312	chr10:49002272-49271312	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
25	esv1816526	chr10:49002272-49271724	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
26	esv1848040	chr10:49002272-49271724	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
27	esv1812124	chr10:49002272-49276934	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
28	esv1818342	chr10:49002272-49276934	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
29	esv1806428	chr10:49002272-49279835	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
30	esv1829638	chr10:49002272-49282297	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
31	esv1813538	chr10:49002272-49282705	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
32	esv1833209	chr10:49002272-49282705	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
33	nsv895351	chr10:49002272-49282705	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	8 gene(s)	inside rSNPs	diseases
34	nsv1037887	chr10:49002272-49322869	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
35	nsv1045121	chr10:49002272-49322869	Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
36	nsv1035447	chr10:49002272-49333393	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
37	nsv1039152	chr10:49002272-49333393	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
38	nsv1041899	chr10:49002272-49333393	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
39	nsv1043047	chr10:49002272-49333393	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
40	nsv1035424	chr10:49002272-49363009	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
41	nsv1035603	chr10:49002272-49363009	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
42	nsv1039406	chr10:49002272-49363009	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
43	nsv1040941	chr10:49002272-49363009	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
44	nsv1049130	chr10:49002272-49363009	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
45	nsv1051254	chr10:49002272-49363009	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
46	nsv1051336	chr10:49002272-49363009	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island lncRNA	9 gene(s)	inside rSNPs	diseases
47	nsv1041109	chr10:49002272-49389956	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
48	nsv1047986	chr10:49002272-49389956	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
49	nsv1040389	chr10:49002272-49391473	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
50	nsv895349	chr10:49002272-49402084	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7893515	CTGLF12P	cis	Artery Tibial	GTEx
rs7893515	CTGLF12P	cis	Skin Sun Exposed Lower leg	GTEx
rs7893515	CTGLF12P	cis	Artery Aorta	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49200200-49202000	Enhancers	HMEC	breast
2	chr10:49200400-49201800	Enhancers	A549	lung
3	chr10:49201000-49202000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:49201000-49205600	Weak transcription	NHEK	skin
5	chr10:49201600-49201800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:49201600-49201800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr10:49201600-49201800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:49201600-49202200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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