Variant report

Variant	rs11667338
Chromosome Location	chr19:27760071-27760072
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 145 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11665817	1.00[AFR][1000 genomes]
rs11666093	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11666757	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667449	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11668380	1.00[AFR][1000 genomes]
rs11668650	1.00[AFR][1000 genomes]
rs11672686	1.00[AFR][1000 genomes];1.00[ASN][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	0.89[AMR][1000 genomes];0.86[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]
rs73015242	1.00[AFR][1000 genomes]
rs73015246	1.00[AFR][1000 genomes]
rs73015252	1.00[AFR][1000 genomes]
rs73016565	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73017211	1.00[AFR][1000 genomes]
rs73017219	1.00[AFR][1000 genomes]
rs73018541	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73018545	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73018557	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73018581	1.00[AFR][1000 genomes]
rs73022568	1.00[AFR][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];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:104 , 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	nsv579121	chr19:27732000-27769717	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS	Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	esv3347460	chr19:27733072-27762365	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	18 gene(s)	inside rSNPs	n/a
13	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
14	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
15	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
16	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
17	esv3434576	chr19:27735990-27762391	ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
18	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
19	esv3451284	chr19:27736253-27763172	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
20	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
21	esv3428278	chr19:27737592-27770725	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
22	esv3325818	chr19:27738576-27771201	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
23	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
24	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
25	esv3327263	chr19:27738915-27771200	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
26	esv3340375	chr19:27739986-27761206	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
27	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
28	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
29	esv3412753	chr19:27740443-27764567	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
30	esv3354617	chr19:27740566-27761106	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
31	esv3351238	chr19:27741666-27760991	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	n/a
32	esv3329266	chr19:27742255-27764611	Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	n/a	n/a	inside rSNPs	n/a
33	esv3348344	chr19:27747712-27773310	ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	n/a
34	esv3352831	chr19:27747712-27773310	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	n/a	n/a	inside rSNPs	n/a
35	esv3340312	chr19:27747712-27787610	Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	n/a
36	esv3433879	chr19:27747812-27773010	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
37	nsv1055949	chr19:27747981-27781279	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
38	nsv1061063	chr19:27747981-27785481	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers	n/a	n/a	inside rSNPs	n/a
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs11667338	CTC-459F4.1	cis	Muscle Skeletal	GTEx
rs11667338	CTC-459F4.1	cis	Adipose Subcutaneous	GTEx
rs11667338	CTC-459F4.1	cis	Nerve Tibial	GTEx
rs11667338	CTC-459F4.1	cis	Artery Aorta	GTEx
rs11667338	CTC-459F4.1	cis	Esophagus Mucosa	GTEx
rs11667338	CTC-459F4.1	cis	Heart Left Ventricle	GTEx
rs11667338	CTC-459F4.1	cis	Thyroid	GTEx
rs11667338	CTC-459F4.1	cis	Esophagus Muscularis	GTEx
rs11667338	CTC-459F4.1	cis	Skin Sun Exposed Lower leg	GTEx
rs11667338	CTC-459F4.1	cis	Artery Tibial	GTEx
rs11667338	CTC-459F4.1	cis	Stomach	GTEx
rs11667338	CTC-459F4.1	cis	lung	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27749200-27761200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:27749400-27761200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr19:27749400-27761400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr19:27749600-27761000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr19:27758200-27760400	Weak transcription	NH-A	brain
6	chr19:27759600-27760800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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