Variant report

Variant	rs2120109
Chromosome Location	chr15:76900654-76900655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1011084	0.83[AFR][1000 genomes]
rs10152247	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10851888	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11072600	0.83[EUR][1000 genomes]
rs11072602	0.83[EUR][1000 genomes]
rs11072607	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11072610	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11630402	0.91[AFR][1000 genomes]
rs11637096	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11852777	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11854850	0.83[EUR][1000 genomes]
rs11855762	0.83[EUR][1000 genomes]
rs12437981	0.83[EUR][1000 genomes]
rs12440965	0.91[AFR][1000 genomes]
rs12591622	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12898810	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12914196	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1603860	0.83[EUR][1000 genomes]
rs1809875	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2164102	0.84[EUR][1000 genomes]
rs2404604	0.91[AFR][1000 genomes]
rs2404734	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2454451	0.80[EUR][1000 genomes]
rs28895952	0.83[EUR][1000 genomes]
rs34103231	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4886816	0.83[EUR][1000 genomes]
rs4886819	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57682236	0.84[EUR][1000 genomes]
rs62026889	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62026898	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7181506	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8029283	0.83[EUR][1000 genomes]
rs965818	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv542439	chr15:76762161-77196336	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv904400	chr15:76772062-77085283	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1053924	chr15:76803849-77089079	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv471254	chr15:76811390-76978139	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
6	nsv570021	chr15:76813920-76978139	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv570022	chr15:76816015-76978139	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv904401	chr15:76816015-77085283	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1042514	chr15:76838221-76906382	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1042089	chr15:76855098-77016127	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1620	chr15:76862152-76914288	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
12	nsv904402	chr15:76863023-76930805	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
13	esv2830013	chr15:76863023-77176158	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1042623	chr15:76863437-76999030	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1039269	chr15:76863437-77057021	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1051037	chr15:76868215-76902257	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1042883	chr15:76869929-76902458	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
18	nsv904403	chr15:76869929-76951040	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
19	nsv904404	chr15:76869929-77033934	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
20	nsv904405	chr15:76869929-77047915	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
21	nsv904406	chr15:76869929-77085283	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
22	nsv904407	chr15:76869929-77121196	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
23	nsv1040711	chr15:76878362-76902257	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
24	nsv1040450	chr15:76878362-76902458	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
25	nsv1053005	chr15:76878362-76903184	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
26	esv2760392	chr15:76878362-76903196	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
27	nsv1048948	chr15:76878362-76910031	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
28	nsv1052133	chr15:76878362-76962756	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
29	nsv510668	chr15:76879852-76901937	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
30	nsv116	chr15:76880628-76914288	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
31	esv1002951	chr15:76882072-76901779	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
32	esv1815271	chr15:76883346-76930805	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
33	nsv9278	chr15:76884067-76909125	Weak transcription Enhancers ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
34	nsv570023	chr15:76884127-76978139	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
35	nsv904408	chr15:76884127-77085283	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
36	nsv570033	chr15:76885148-76902506	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
37	nsv570044	chr15:76885321-76902506	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
38	nsv570045	chr15:76885321-76907376	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
39	nsv570049	chr15:76885977-76902506	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
40	nsv570050	chr15:76885977-76907376	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
41	nsv570060	chr15:76888441-76902506	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
42	nsv570068	chr15:76888967-76902506	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
43	nsv511549	chr15:76891010-76902523	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
44	esv2761977	chr15:76891241-76903196	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
45	nsv570087	chr15:76891342-76902506	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
46	nsv570088	chr15:76891342-76907376	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
47	esv1824106	chr15:76891342-76930805	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
48	nsv1042151	chr15:76891499-76902167	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
49	nsv1052934	chr15:76891499-76902182	ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
50	nsv1042990	chr15:76891499-76902229	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs2120109	SCAPER	cis	Thyroid	GTEx
rs2120109	SCAPER	cis	Artery Tibial	GTEx
rs2120109	SCAPER	cis	Whole Blood	GTEx
rs2120109	SCAPER	cis	Skin Sun Exposed Lower leg	GTEx
rs2120109	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs2120109	SCAPER	cis	Nerve Tibial	GTEx
rs2120109	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs2120109	SCAPER	cis	Esophagus Muscularis	GTEx
rs2120109	SCAPER	cis	lung	GTEx
rs2120109	SCAPER	cis	Esophagus Mucosa	GTEx
rs2120109	SCAPER	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76882200-76991400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:76896800-76915600	Weak transcription	Primary B cells from cord blood	blood
3	chr15:76898000-76902600	Weak transcription	Ovary	ovary
4	chr15:76898200-76909600	Weak transcription	Left Ventricle	heart
5	chr15:76898400-76981000	Weak transcription	Pancreas	Pancrea
6	chr15:76899800-76904400	Weak transcription	Lung	lung

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