Variant report

Variant	rs74009468
Chromosome Location	chr15:45174667-45174668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr15:45174631-45175373	GM12878	blood:	n/a	n/a
2	EBF1	chr15:45174588-45175835	GM12878	blood:	n/a	n/a
3	NFATC1	chr15:45174606-45175287	GM12878	blood:	n/a	n/a
4	RELA	chr15:45174415-45175310	GM15510	blood:	n/a	n/a
5	POLR2A	chr15:45174383-45174883	GM12878	blood:	n/a	n/a
6	RELA	chr15:45174393-45176061	GM18505	blood:	n/a	n/a
7	RELA	chr15:45174557-45175304	GM10847	blood:	n/a	n/a
8	CREB1	chr15:45174522-45175370	GM12878	blood:	n/a	n/a
9	RUNX3	chr15:45174267-45176128	GM12878	blood:	n/a	n/a
10	MEF2A	chr15:45174626-45175192	GM12878	blood:	n/a	n/a
11	MTA3	chr15:45174212-45176147	GM12878	blood:	n/a	n/a
12	STAT5A	chr15:45174345-45175310	GM12878	blood:	n/a	n/a
13	TAF1	chr15:45174595-45174959	GM12891	blood:	n/a	n/a
14	POU2F2	chr15:45174292-45175277	GM12891	blood:	n/a	n/a
15	ATF2	chr15:45174555-45175594	GM12878	blood:	n/a	n/a
16	WRNIP1	chr15:45174312-45175116	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:45172962-45175256	GM12892	blood:	n/a	n/a
18	POLR2A	chr15:45173577-45176248	GM12892	blood:	n/a	n/a
19	POU2F2	chr15:45174488-45175373	GM12878	blood:	n/a	n/a
20	IKZF1	chr15:45174500-45176062	GM12878	blood:	n/a	n/a
21	RUNX3	chr15:45174264-45176111	GM12878	blood:	n/a	n/a
22	PML	chr15:45174243-45176178	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:45173989-45175060	GM12891	blood:	n/a	n/a
24	ATF2	chr15:45174666-45175297	GM12878	blood:	n/a	n/a
25	EP300	chr15:45174545-45175511	GM12878	blood:	n/a	n/a
26	YY1	chr15:45174658-45175046	GM12892	blood:	n/a	n/a
27	POLR2A	chr15:45172927-45176281	GM12892	blood:	n/a	n/a
28	RELA	chr15:45174481-45175270	GM19193	blood:	n/a	n/a
29	BHLHE40	chr15:45174566-45175326	GM12878	blood:	n/a	n/a
30	POLR2A	chr15:45173588-45175147	GM12891	blood:	n/a	n/a
31	CHD2	chr15:45174558-45175327	GM12878	blood:	n/a	n/a
32	STAT5A	chr15:45174291-45175194	GM12878	blood:	n/a	n/a
33	POLR2A	chr15:45174341-45174952	GM12878	blood:	n/a	n/a
34	TAF1	chr15:45174638-45175007	GM12891	blood:	n/a	n/a
35	POU2F2	chr15:45174470-45175335	GM12891	blood:	n/a	n/a
36	POU2F2	chr15:45174655-45175145	GM12878	blood:	n/a	n/a
37	POLR2A	chr15:45174399-45174933	GM12878	blood:	n/a	n/a
38	PAX5	chr15:45174492-45175407	GM12878	blood:	n/a	n/a
39	BCLAF1	chr15:45174481-45175331	GM12878	blood:	n/a	n/a
40	POLR2A	chr15:45174369-45175030	GM12892	blood:	n/a	n/a
41	POLR2A	chr15:45173444-45176220	GM12878	blood:	n/a	n/a
42	CEBPB	chr15:45173553-45176123	GM12878	blood:	n/a	n/a
43	BCLAF1	chr15:45174315-45175214	GM12878	blood:	n/a	n/a
44	BCL11A	chr15:45174655-45175245	GM12878	blood:	n/a	n/a
45	POLR2A	chr15:45173823-45175123	GM12891	blood:	n/a	n/a
46	MEF2C	chr15:45174608-45175259	GM12878	blood:	n/a	n/a
47	POLR2A	chr15:45172983-45175348	GM12892	blood:	n/a	n/a
48	POLR2A	chr15:45174308-45174957	GM12878	blood:	n/a	n/a
49	RELA	chr15:45174390-45175330	GM12891	blood:	n/a	n/a
50	PAX5	chr15:45174634-45175264	GM12878	blood:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf43-2	chr15:45174295-45174981	NONHSAT042199

No data

Variant related genes	Relation type
RNU1-119P	TF binding region

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10152170	1.00[ASN][1000 genomes]
rs11630893	1.00[ASN][1000 genomes]
rs12324633	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12324640	1.00[ASN][1000 genomes]
rs12324756	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288101	1.00[ASN][1000 genomes]
rs1288104	0.83[ASN][1000 genomes]
rs1403733	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16975720	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16977202	1.00[ASN][1000 genomes]
rs16977224	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1818870	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1829895	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2077533	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084833	1.00[ASN][1000 genomes]
rs2084834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2204258	0.83[ASN][1000 genomes]
rs2412921	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2412925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2443992	1.00[ASN][1000 genomes]
rs28570452	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2924128	1.00[ASN][1000 genomes]
rs55721737	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55833848	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56044064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56276848	1.00[ASN][1000 genomes]
rs56282581	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57902603	1.00[ASN][1000 genomes]
rs59646529	1.00[ASN][1000 genomes]
rs59925024	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60480925	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68101683	1.00[ASN][1000 genomes]
rs72489218	1.00[EUR][1000 genomes]
rs74009444	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74009448	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74009449	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74009450	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74009467	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74009474	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
4	nsv1048668	chr15:45094019-45284278	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1050650	chr15:45096539-45229584	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1048867	chr15:45100852-45289756	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv2757599	chr15:45100852-45383620	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv1036204	chr15:45105374-45284278	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1047353	chr15:45105374-45289756	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1040940	chr15:45105374-45300844	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv2753133	chr15:45105876-45268182	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	esv34494	chr15:45105876-45268208	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv1041613	chr15:45111367-45284278	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv1053041	chr15:45117399-45289756	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1040140	chr15:45121635-45289756	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv904181	chr15:45127793-45216343	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv976929	chr15:45136882-45199085	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv904182	chr15:45146708-45267670	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv904183	chr15:45146708-45279246	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv1050674	chr15:45152371-45250017	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv1037190	chr15:45152371-45259624	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	nsv1053492	chr15:45152371-45275226	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv1054418	chr15:45152371-45289756	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv1037941	chr15:45152371-45296101	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	nsv1048317	chr15:45152371-45326205	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
26	esv14867	chr15:45154177-45175380	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45173600-45177200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:45174200-45176000	Enhancers	HMEC	breast
3	chr15:45174400-45175000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr15:45174400-45175000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:45174400-45175000	Flanking Active TSS	GM12878-XiMat	blood
6	chr15:45174400-45175400	Enhancers	NHEK	skin
7	chr15:45174400-45175800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:45174600-45175000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr15:45174600-45175000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:45174600-45175000	Bivalent Enhancer	HepG2	liver
11	chr15:45174600-45175400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:45174600-45176000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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