Variant report

Variant	rs11666757
Chromosome Location	chr19:27751091-27751092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 140 )
Associated
traits (count: 12 )

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

rs_ID	r²[population]
rs11665817	1.00[AFR][1000 genomes]
rs11666093	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11667338	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667449	0.88[AMR][1000 genomes];0.88[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	0.91[AMR][1000 genomes];0.96[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	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73017211	1.00[AFR][1000 genomes]
rs73017219	1.00[AFR][1000 genomes]
rs73018541	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs73018545	0.86[EUR][1000 genomes]
rs73018557	1.00[AFR][1000 genomes];0.85[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];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:99 , 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	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	esv3424744	chr19:27732799-27755395	Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	21 gene(s)	inside rSNPs	n/a
13	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
14	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
15	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
16	esv3448411	chr19:27733479-27755395	Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	17 gene(s)	inside rSNPs	n/a
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	esv3388005	chr19:27737727-27756246	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
25	esv3387609	chr19:27737932-27758131	ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
26	esv3416891	chr19:27737950-27760030	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
27	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
28	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
29	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
30	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
31	esv3380063	chr19:27739622-27758121	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
32	esv3413551	chr19:27739632-27751509	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	n/a
33	esv3396563	chr19:27739968-27758131	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
34	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
35	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
36	esv3451231	chr19:27740104-27756247	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
37	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
38	esv3383246	chr19:27740443-27758608	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
39	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
40	esv3352549	chr19:27740566-27756371	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
41	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
42	esv3417891	chr19:27740890-27756817	Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
43	esv3351238	chr19:27741666-27760991	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	n/a
44	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
45	esv3377264	chr19:27745545-27755805	ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	n/a
46	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
47	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
48	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
49	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
50	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

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs11666757	CTC-459F4.1	cis	Stomach	GTEx
rs11666757	CTC-459F4.1	cis	Artery Tibial	GTEx
rs11666757	CTC-459F4.1	cis	Heart Left Ventricle	GTEx
rs11666757	CTC-459F4.1	cis	Thyroid	GTEx
rs11666757	CTC-459F4.1	cis	lung	GTEx
rs11666757	CTC-459F4.1	cis	Esophagus Muscularis	GTEx
rs11666757	CTC-459F4.1	cis	Esophagus Mucosa	GTEx
rs11666757	CTC-459F4.1	cis	Nerve Tibial	GTEx
rs11666757	CTC-459F4.1	cis	Skin Sun Exposed Lower leg	GTEx
rs11666757	CTC-459F4.1	cis	Muscle Skeletal	GTEx
rs11666757	CTC-459F4.1	cis	Adipose Subcutaneous	GTEx
rs11666757	CTC-459F4.1	cis	Artery Aorta	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:27740800-27755200	Weak transcription	K562	blood
2	chr19:27749200-27761200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:27749400-27761200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr19:27749400-27761400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr19:27749600-27761000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr19:27749800-27756600	Weak transcription	NH-A	brain
7	chr19:27750000-27752200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:27750600-27752800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr19:27750600-27752800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:27750600-27753400	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:27750800-27752400	Weak transcription	Liver	Liver
12	chr19:27750800-27752600	Weak transcription	Psoas Muscle	Psoas

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