Variant report

Variant	rs73018557
Chromosome Location	chr19:27797670-27797671
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11665817	1.00[AFR][1000 genomes]
rs11666093	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11666544	1.00[AFR][1000 genomes]
rs11666757	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11667338	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11667449	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11668380	1.00[AFR][1000 genomes]
rs11672686	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11672977	1.00[AFR][1000 genomes]
rs2177940	1.00[AFR][1000 genomes]
rs34467181	1.00[AFR][1000 genomes]
rs36051330	1.00[AFR][1000 genomes]
rs55906427	0.82[EUR][1000 genomes]
rs73014569	1.00[AFR][1000 genomes]
rs73014574	1.00[AFR][1000 genomes]
rs73014583	1.00[AFR][1000 genomes]
rs73014588	1.00[AFR][1000 genomes]
rs73014601	1.00[AFR][1000 genomes]
rs73016565	0.81[AMR][1000 genomes]
rs73017211	1.00[AFR][1000 genomes]
rs73017219	1.00[AFR][1000 genomes]
rs73018541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73018545	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73018581	1.00[AFR][1000 genomes]
rs73022568	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73022576	1.00[AFR][1000 genomes]
rs73022591	1.00[AFR][1000 genomes]
rs73022597	1.00[AFR][1000 genomes]
rs73024507	1.00[AFR][1000 genomes]
rs73024551	1.00[AFR][1000 genomes]
rs73024556	1.00[AFR][1000 genomes]
rs73024580	1.00[AFR][1000 genomes]
rs73030539	1.00[AFR][1000 genomes]
rs73030560	1.00[AFR][1000 genomes]
rs73030562	1.00[AFR][1000 genomes]
rs73030570	1.00[AFR][1000 genomes]
rs73030577	1.00[AFR][1000 genomes]
rs8187061	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

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	nsv579122	chr19:27732000-27884796	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Strong transcription	Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv482718	chr19:27732070-27934662	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
10	nsv833794	chr19:27732070-27934662	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription	Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
11	nsv428021	chr19:27733176-27905739	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
12	nsv428363	chr19:27733176-27905739	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
13	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
14	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
15	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
16	esv1796414	chr19:27736608-27868006	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
17	esv3433655	chr19:27738914-27814301	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
18	esv3432632	chr19:27738914-27872863	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
19	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
20	esv3380240	chr19:27740226-27939476	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
21	nsv1055375	chr19:27747981-27828664	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
22	nsv1064305	chr19:27747981-27865892	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
23	nsv1060922	chr19:27747981-27866409	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
24	nsv1062721	chr19:27747981-27881174	ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
25	nsv1059622	chr19:27747981-27910663	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs73018557	CTC-459F4.1	cis	Skin Sun Exposed Lower leg	GTEx
rs73018557	CTC-459F4.1	cis	Artery Tibial	GTEx
rs73018557	LINC00662	cis	Whole Blood	GTEx
rs73018557	CTC-459F4.1	cis	Heart Left Ventricle	GTEx
rs73018557	CTC-459F4.1	cis	Artery Aorta	GTEx
rs73018557	CTC-459F4.1	cis	Nerve Tibial	GTEx
rs73018557	CTC-459F4.1	cis	Muscle Skeletal	GTEx
rs73018557	CTC-459F4.1	cis	lung	GTEx
rs73018557	CTC-459F4.1	cis	Thyroid	GTEx
rs73018557	CTC-459F4.1	cis	Adipose Subcutaneous	GTEx
rs73018557	CTC-459F4.1	cis	Esophagus Mucosa	GTEx
rs73018557	CTC-459F4.1	cis	Stomach	GTEx
rs73018557	CTC-459F4.1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27788600-27806600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr19:27788800-27808600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr19:27792800-27806800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:27794000-27798200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:27794000-27798200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:27797400-27798600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr19:27797400-27803000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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