Variant report

Variant	rs73022597
Chromosome Location	chr19:27944478-27944479
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 229 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11665817	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666544	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11666757	1.00[AFR][1000 genomes]
rs11666822	1.00[ASN][1000 genomes]
rs11667338	1.00[AFR][1000 genomes]
rs11668380	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11671191	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11672686	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs34467181	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35331565	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4622630	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67640670	1.00[ASN][1000 genomes]
rs73014601	1.00[AFR][1000 genomes]
rs73018541	1.00[AFR][1000 genomes]
rs73018557	1.00[AFR][1000 genomes]
rs73018581	1.00[AFR][1000 genomes]
rs73022568	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73022576	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73022586	0.84[EUR][1000 genomes]
rs73022591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73022602	0.91[EUR][1000 genomes]
rs73024504	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73024507	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73024517	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73024551	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73024556	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73024580	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73024590	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73026536	1.00[ASN][1000 genomes]
rs73026546	1.00[ASN][1000 genomes]
rs73026552	1.00[ASN][1000 genomes]
rs73026557	1.00[ASN][1000 genomes]
rs73026571	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73026572	1.00[ASN][1000 genomes]
rs73026581	1.00[ASN][1000 genomes]
rs73026588	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73026591	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73028464	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73028467	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73028477	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73030420	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73030421	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73030427	1.00[ASN][1000 genomes]
rs73030436	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73030441	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73030448	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8187061	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

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	esv1792884	chr19:27732000-27972553	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
3	esv1813820	chr19:27732000-27972553	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
4	esv1817017	chr19:27732000-27972553	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
5	esv1818457	chr19:27732000-27972553	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
6	esv1829019	chr19:27732000-27972553	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
7	esv1813626	chr19:27732000-28036744	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
8	nsv579124	chr19:27733647-27961912	ZNF genes & repeats Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
9	esv1836533	chr19:27733647-27962953	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
10	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
11	esv3435760	chr19:27739988-28047842	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	nsv1064163	chr19:27747981-27957027	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv1065630	chr19:27747981-27960006	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv1061985	chr19:27747981-27965503	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
15	nsv1066161	chr19:27747981-27975389	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
16	nsv1065724	chr19:27747981-28000838	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
17	nsv1062651	chr19:27747981-28016281	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
18	nsv1060682	chr19:27747981-28019857	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
19	nsv1057162	chr19:27747981-28032388	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
20	nsv1066189	chr19:27747981-28034718	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
21	nsv1065405	chr19:27747981-28036407	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
22	nsv1065571	chr19:27747981-28041144	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
23	nsv1065696	chr19:27747981-28041818	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
24	nsv1055914	chr19:27747981-28065600	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
25	nsv1065117	chr19:27747981-28069337	ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
26	nsv1065098	chr19:27747981-28070187	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
27	nsv1062357	chr19:27747981-28070409	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
28	nsv1059313	chr19:27747981-28072947	ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
29	nsv1063001	chr19:27747981-28080753	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
30	nsv1055959	chr19:27747981-28080803	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
31	nsv1066032	chr19:27747981-28081375	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
32	nsv1062077	chr19:27747981-28087377	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
33	nsv1059936	chr19:27747981-28123278	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
34	nsv1060114	chr19:27747981-28127652	ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	nsv1065836	chr19:27751663-28041818	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
50	esv3344040	chr19:27758053-28047852	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs73022597	CTC-459F4.1	cis	Nerve Tibial	GTEx
rs73022597	CTC-459F4.1	cis	Artery Aorta	GTEx
rs73022597	CTC-459F4.1	cis	Skin Sun Exposed Lower leg	GTEx
rs73022597	CTC-459F4.1	cis	Esophagus Mucosa	GTEx
rs73022597	CTC-459F4.1	cis	Adipose Subcutaneous	GTEx
rs73022597	CTC-459F4.1	cis	Esophagus Muscularis	GTEx
rs73022597	CTC-459F4.1	cis	Stomach	GTEx
rs73022597	CTC-459F4.1	cis	Thyroid	GTEx
rs73022597	LINC00662	cis	Whole Blood	GTEx
rs73022597	CTC-459F4.1	cis	Muscle Skeletal	GTEx
rs73022597	CTC-459F4.1	cis	Heart Left Ventricle	GTEx
rs73022597	CTC-459F4.1	cis	lung	GTEx
rs73022597	CTC-459F4.1	cis	Artery Tibial	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27939600-27951800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr19:27941400-27946000	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:27943200-27946000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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