Variant report

Variant	rs73032248
Chromosome Location	chr19:28138016-28138017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11665672	1.00[ASN][1000 genomes]
rs11665757	1.00[ASN][1000 genomes]
rs11666634	1.00[ASN][1000 genomes]
rs11666844	1.00[ASN][1000 genomes]
rs11667445	1.00[ASN][1000 genomes]
rs11667490	1.00[ASN][1000 genomes]
rs11668375	1.00[ASN][1000 genomes]
rs11669594	1.00[ASN][1000 genomes]
rs11670363	1.00[ASN][1000 genomes]
rs11670416	1.00[ASN][1000 genomes]
rs11671105	1.00[ASN][1000 genomes]
rs11671795	1.00[ASN][1000 genomes]
rs11672030	1.00[ASN][1000 genomes]
rs11672926	1.00[ASN][1000 genomes]
rs1544602	1.00[ASN][1000 genomes]
rs1594018	1.00[ASN][1000 genomes]
rs1594020	1.00[ASN][1000 genomes]
rs17687460	1.00[ASN][1000 genomes]
rs1835070	1.00[ASN][1000 genomes]
rs4378721	1.00[ASN][1000 genomes]
rs73014609	1.00[ASN][1000 genomes]
rs73014670	1.00[ASN][1000 genomes]
rs73014693	1.00[ASN][1000 genomes]
rs73014697	1.00[ASN][1000 genomes]
rs73014700	1.00[ASN][1000 genomes]
rs73016608	1.00[ASN][1000 genomes]
rs73016611	1.00[ASN][1000 genomes]
rs73016615	1.00[ASN][1000 genomes]
rs73018707	1.00[ASN][1000 genomes]
rs73018714	1.00[ASN][1000 genomes]
rs73018758	1.00[ASN][1000 genomes]
rs73018762	1.00[ASN][1000 genomes]
rs73018790	1.00[ASN][1000 genomes]
rs73020750	1.00[ASN][1000 genomes]
rs73020753	1.00[ASN][1000 genomes]
rs73020775	1.00[ASN][1000 genomes]
rs73020789	1.00[ASN][1000 genomes]
rs73022706	1.00[ASN][1000 genomes]
rs73024749	1.00[ASN][1000 genomes]
rs73024764	1.00[ASN][1000 genomes]
rs73024769	1.00[ASN][1000 genomes]
rs73024774	1.00[ASN][1000 genomes]
rs73026546	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73026847	1.00[ASN][1000 genomes]
rs73026853	1.00[ASN][1000 genomes]
rs73026867	1.00[ASN][1000 genomes]
rs73026884	1.00[ASN][1000 genomes]
rs73026890	1.00[ASN][1000 genomes]
rs73028959	1.00[ASN][1000 genomes]
rs73028970	1.00[ASN][1000 genomes]
rs73030427	1.00[AFR][1000 genomes]
rs73030472	1.00[ASN][1000 genomes]
rs73030498	1.00[ASN][1000 genomes]
rs73032204	1.00[ASN][1000 genomes]
rs73032210	1.00[ASN][1000 genomes]
rs73032213	1.00[ASN][1000 genomes]
rs73032250	1.00[ASN][1000 genomes]
rs73032265	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv961285	chr19:27731783-28407818	Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv579125	chr19:27736063-28172667	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv1062493	chr19:27747981-28144500	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1064177	chr19:27747981-28150676	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1066251	chr19:27747981-28163448	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1067376	chr19:27747981-28173873	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1056628	chr19:27747981-28180915	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1060972	chr19:27747981-28195015	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1060017	chr19:27747981-28249070	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1060889	chr19:27747981-28256350	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1066699	chr19:27747981-28273601	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv1060674	chr19:27747981-28299996	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv1065481	chr19:27747981-28413175	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv1059366	chr19:27747981-28414634	Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv1058373	chr19:27747981-28491356	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv1061090	chr19:27747981-28682929	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
17	nsv911509	chr19:27763440-28269366	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv911510	chr19:27763440-28330908	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
19	nsv911511	chr19:27763440-28468209	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
20	nsv911512	chr19:27763440-28484676	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
21	nsv911513	chr19:27763440-28491875	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
22	nsv911514	chr19:27763440-28496053	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
23	nsv911518	chr19:27778828-28144500	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv579127	chr19:27778828-28274509	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv1055513	chr19:27780944-28178642	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	nsv911522	chr19:27794208-28144500	ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv911523	chr19:27794208-28468209	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
28	nsv911524	chr19:27794208-28484676	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
29	nsv911525	chr19:27794208-28491875	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
30	nsv911526	chr19:27794208-28496053	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
31	esv1805402	chr19:27801814-28217887	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
32	esv1807139	chr19:27801814-28231750	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
33	nsv1063232	chr19:27853206-28569858	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
34	nsv543972	chr19:27853206-28569858	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
35	nsv1055749	chr19:27853206-28740895	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
36	nsv543973	chr19:27853206-28740895	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
37	nsv1067798	chr19:27853207-28431843	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
38	nsv498156	chr19:27853207-28431843	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
39	nsv868982	chr19:27853207-28483508	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
40	nsv930989	chr19:27853207-28569857	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
41	nsv532819	chr19:27853207-28664723	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
42	nsv530474	chr19:27853207-28740894	Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
43	nsv916250	chr19:27853209-28483527	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
44	nsv911534	chr19:27861995-28144500	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
45	nsv911535	chr19:27861995-28491875	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
46	nsv911536	chr19:27861995-28496053	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
47	esv2762966	chr19:27881186-28539281	Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
48	nsv911538	chr19:27884796-28200288	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
49	nsv911541	chr19:27893661-28144500	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
50	nsv911542	chr19:27893661-28269366	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs73032248	CTC-459F4.1	cis	Artery Aorta	GTEx
rs73032248	CTC-459F4.1	cis	Thyroid	GTEx
rs73032248	CTC-459F4.1	cis	Nerve Tibial	GTEx
rs73032248	CTC-459F4.1	cis	Heart Left Ventricle	GTEx
rs73032248	CTC-459F4.1	cis	Artery Tibial	GTEx
rs73032248	CTC-459F4.1	cis	lung	GTEx
rs73032248	CTC-459F4.1	cis	Adipose Subcutaneous	GTEx
rs73032248	CTC-459F4.1	cis	Muscle Skeletal	GTEx
rs73032248	CTC-459F4.1	cis	Esophagus Muscularis	GTEx
rs73032248	CTC-459F4.1	cis	Skin Sun Exposed Lower leg	GTEx
rs73032248	CTC-459F4.1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:28137800-28138400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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