Variant report

Variant	rs150013691
Chromosome Location	chr10:49319300-49319301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:49318432-49319379	K562	blood:	n/a	n/a

Variant related genes	Relation type
PTPN20CP	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 6 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	nsv1037726	chr10:49002272-49404608	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv497860	chr10:49002272-49431037	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv895361	chr10:49059803-49333393	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv895362	chr10:49059803-49402084	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv469669	chr10:49195537-49340887	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv482261	chr10:49195537-49340887	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
24	esv18884	chr10:49195571-49390721	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	nsv820931	chr10:49195571-49390721	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
26	esv2763891	chr10:49201820-49363009	Enhancers Weak transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
27	nsv831863	chr10:49219301-49349433	Enhancers	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
28	esv3452864	chr10:49232746-49364894	Weak transcription Enhancers	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
29	esv3452875	chr10:49232746-49364894	Enhancers Weak transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
30	esv2760150	chr10:49241479-49363009	Enhancers Weak transcription	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
31	nsv895363	chr10:49246290-49381635	Enhancers Weak transcription	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
32	nsv895364	chr10:49246290-49402084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
33	nsv947975	chr10:49272407-49389558	Enhancers Weak transcription	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
34	nsv550808	chr10:49276342-49363009	Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
35	nsv550809	chr10:49299274-49358482	Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
36	nsv550810	chr10:49299274-49360392	Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
37	nsv831864	chr10:49299274-49450299	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
38	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs150013691	CTGLF12P	cis	Artery Tibial	GTEx
rs150013691	CTGLF12P	cis	Skin Sun Exposed Lower leg	GTEx
rs150013691	CTGLF12P	cis	Heart Left Ventricle	GTEx
rs150013691	CTGLF12P	cis	Muscle Skeletal	GTEx
rs150013691	CTGLF12P	cis	Esophagus Mucosa	GTEx
rs150013691	CTGLF12P	cis	Thyroid	GTEx

Chromatin state (count:0 , 50 per page) page:

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