Variant report

Variant	rs1021382
Chromosome Location	chr15:75417398-75417399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2A	chr15:75417347-75417936	GM12878	blood:	n/a	chr15:75417429-75417446
2	MTA3	chr15:75417363-75417960	GM12878	blood:	n/a	n/a
3	MTA3	chr15:75417283-75418051	GM12878	blood:	n/a	n/a
4	BCLAF1	chr15:75417380-75417946	GM12878	blood:	n/a	n/a
5	E2F6	chr15:75417308-75417411	K562	blood:	n/a	n/a
6	SPI1	chr15:75417329-75417942	HL-60	blood:	n/a	n/a
7	ATF1	chr15:75417311-75417992	K562	blood:	n/a	n/a
8	CEBPB	chr15:75417350-75418015	GM12878	blood:	n/a	n/a
9	MYC	chr15:75417215-75418001	K562	blood:	n/a	n/a
10	NFIC	chr15:75417355-75417966	GM12878	blood:	n/a	n/a
11	ATF2	chr15:75417370-75417987	GM12878	blood:	n/a	n/a
12	IRF1	chr15:75417208-75417974	K562	blood:	n/a	chr15:75417471-75417485
13	MAX	chr15:75417135-75417429	K562	blood:	n/a	n/a
14	GATA1	chr15:75416841-75417720	PBDE	blood:	n/a	chr15:75416925-75416934
15	JUND	chr15:75417200-75417977	K562	blood:	n/a	n/a
16	NFATC1	chr15:75417343-75417867	GM12878	blood:	n/a	n/a
17	EP300	chr15:75417137-75417932	K562	blood:	n/a	n/a
18	STAT2	chr15:75417357-75418017	K562	blood:	n/a	chr15:75417780-75417795
19	STAT2	chr15:75417382-75418015	K562	blood:	n/a	chr15:75417780-75417795
20	RCOR1	chr15:75417233-75417984	K562	blood:	n/a	n/a
21	RUNX3	chr15:75417344-75418042	GM12878	blood:	n/a	n/a
22	MEF2C	chr15:75417370-75417953	GM12878	blood:	n/a	chr15:75417691-75417706 chr15:75417429-75417446
23	SIRT6	chr15:75417202-75418030	K562	blood:	n/a	n/a
24	PML	chr15:75417238-75417998	GM12878	blood:	n/a	n/a
25	FOXM1	chr15:75417325-75417986	GM12878	blood:	n/a	n/a
26	NFIC	chr15:75417249-75417964	GM12878	blood:	n/a	n/a
27	MYC	chr15:75417208-75417416	K562	blood:	n/a	n/a
28	MEF2A	chr15:75417329-75417923	GM12878	blood:	n/a	chr15:75417429-75417446
29	TBL1XR1	chr15:75417257-75417924	K562	blood:	n/a	n/a
30	TEAD4	chr15:75416944-75417978	K562	blood:	n/a	n/a
31	IRF1	chr15:75417294-75417918	K562	blood:	n/a	chr15:75417471-75417485
32	RUNX3	chr15:75417337-75418020	GM12878	blood:	n/a	n/a
33	CREB1	chr15:75417309-75418057	GM12878	blood:	n/a	n/a
34	BHLHE40	chr15:75417194-75418040	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75416113..75419586-chr15:75420394..75423438,3	K562	blood:
2	chr15:75412122..75415220-chr15:75417317..75419592,3	MCF-7	breast:
3	chr15:75315828..75317383-chr15:75417068..75419391,2	MCF-7	breast:
4	chr15:75416929..75419058-chr15:75493665..75496578,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252722	TF binding region
ENSG00000252722	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000138621	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10775208	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10851877	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10851878	0.91[ASN][1000 genomes]
rs11072525	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11072526	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072528	0.96[ASN][1000 genomes]
rs11638746	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12102035	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12442392	0.96[ASN][1000 genomes]
rs12442410	0.96[ASN][1000 genomes]
rs12910348	0.94[ASN][1000 genomes]
rs12914536	0.96[ASN][1000 genomes]
rs12917185	0.96[ASN][1000 genomes]
rs12917304	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1602360	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1806793	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1806794	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1806795	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1867147	0.83[EUR][1000 genomes]
rs2029519	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2029520	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415158	0.91[ASN][1000 genomes]
rs2415159	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28767543	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34511319	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4243032	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4334268	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4421941	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4479194	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4480765	0.94[ASN][1000 genomes]
rs4519311	0.80[ASN][1000 genomes]
rs4886420	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886422	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4886658	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4886661	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4886667	0.96[ASN][1000 genomes]
rs4886668	0.94[ASN][1000 genomes]
rs4886669	0.94[ASN][1000 genomes]
rs55662404	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58201389	0.92[ASN][1000 genomes]
rs59390721	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6495153	0.96[ASN][1000 genomes]
rs6495154	0.96[ASN][1000 genomes]
rs6495155	0.96[ASN][1000 genomes]
rs6495158	0.94[ASN][1000 genomes]
rs7162055	0.92[ASN][1000 genomes]
rs7162376	0.91[ASN][1000 genomes]
rs7163083	0.96[ASN][1000 genomes]
rs7166695	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7168020	0.89[ASN][1000 genomes]
rs7169545	0.96[ASN][1000 genomes]
rs7169867	0.96[ASN][1000 genomes]
rs7172205	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7172677	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7177528	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7178005	0.96[ASN][1000 genomes]
rs7178625	0.96[ASN][1000 genomes]
rs7178784	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7179426	0.96[ASN][1000 genomes]
rs7179436	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7181933	0.96[ASN][1000 genomes]
rs72730601	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8025412	0.96[ASN][1000 genomes]
rs8026273	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8027552	0.82[ASN][1000 genomes]
rs8027604	0.94[ASN][1000 genomes]
rs8028146	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8029756	0.95[ASN][1000 genomes]
rs8029760	0.96[ASN][1000 genomes]
rs8032208	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8033754	0.96[ASN][1000 genomes]
rs8035588	0.87[ASN][1000 genomes]
rs8035789	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs902476	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv457205	chr15:75336729-75447773	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv569994	chr15:75336729-75447773	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv904383	chr15:75382542-75520378	Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv1796196	chr15:75389382-75531124	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv1037713	chr15:75401213-75665304	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75401200-75430600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:75412800-75433600	Weak transcription	Aorta	Aorta
3	chr15:75414800-75419200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr15:75415000-75425400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr15:75415400-75423000	Enhancers	Primary hematopoietic stem cells	blood
6	chr15:75415600-75419800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:75415800-75417400	Enhancers	K562	blood
8	chr15:75415800-75417600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr15:75415800-75417600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr15:75415800-75417600	Enhancers	Ovary	ovary
11	chr15:75415800-75417800	Enhancers	HepG2	liver
12	chr15:75415800-75422200	Enhancers	GM12878-XiMat	blood
13	chr15:75416000-75417600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr15:75416000-75417800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr15:75416000-75417800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:75416000-75419800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr15:75416000-75420000	Enhancers	Primary B cells from cord blood	blood
18	chr15:75416200-75417600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr15:75416200-75417800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:75416200-75419000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr15:75416400-75420400	Enhancers	Hela-S3	cervix
22	chr15:75416400-75421400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:75416400-75424000	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr15:75416600-75417600	Enhancers	Placenta	Placenta
25	chr15:75416600-75417600	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr15:75416600-75417600	Weak transcription	NHLF	lung
27	chr15:75416600-75418600	Enhancers	Primary B cells from peripheral blood	blood
28	chr15:75416600-75422000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:75416800-75417400	Weak transcription	Lung	lung
30	chr15:75416800-75417600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr15:75416800-75418400	Weak transcription	Spleen	Spleen
32	chr15:75416800-75418800	Enhancers	Fetal Muscle Leg	muscle
33	chr15:75417000-75418400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr15:75417000-75419400	Weak transcription	A549	lung
35	chr15:75417000-75422000	Weak transcription	Adipose Nuclei	Adipose
36	chr15:75417000-75422000	Weak transcription	HMEC	breast
37	chr15:75417200-75417600	Weak transcription	Colonic Mucosa	Colon
38	chr15:75417200-75417800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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