Variant report

Variant	rs8028146
Chromosome Location	chr15:75417935-75417936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr15:75417444-75417963	GM12878	blood:	n/a	n/a
2	MEF2A	chr15:75417347-75417936	GM12878	blood:	n/a	chr15:75417429-75417446
3	MTA3	chr15:75417363-75417960	GM12878	blood:	n/a	n/a
4	CREB1	chr15:75417431-75417975	GM12878	blood:	n/a	n/a
5	STAT1	chr15:75417554-75418002	K562	blood:	n/a	n/a
6	MTA3	chr15:75417283-75418051	GM12878	blood:	n/a	n/a
7	BCLAF1	chr15:75417380-75417946	GM12878	blood:	n/a	n/a
8	MAX	chr15:75417723-75418009	Hela-S3	cervix:	n/a	n/a
9	BCL11A	chr15:75417705-75417969	GM12878	blood:	n/a	n/a
10	SPI1	chr15:75417329-75417942	HL-60	blood:	n/a	n/a
11	ATF1	chr15:75417311-75417992	K562	blood:	n/a	n/a
12	CEBPB	chr15:75417350-75418015	GM12878	blood:	n/a	n/a
13	MYC	chr15:75417215-75418001	K562	blood:	n/a	n/a
14	MAX	chr15:75417688-75418004	K562	blood:	n/a	n/a
15	NFIC	chr15:75417355-75417966	GM12878	blood:	n/a	n/a
16	PML	chr15:75417533-75417938	K562	blood:	n/a	n/a
17	MAX	chr15:75417706-75417959	K562	blood:	n/a	n/a
18	NFIC	chr15:75417489-75418003	ECC-1	luminal epithelium:	n/a	n/a
19	ATF2	chr15:75417370-75417987	GM12878	blood:	n/a	n/a
20	MYC	chr15:75417632-75418037	K562	blood:	n/a	n/a
21	PAX5	chr15:75417644-75417940	GM12878	blood:	n/a	n/a
22	IRF1	chr15:75417208-75417974	K562	blood:	n/a	chr15:75417471-75417485
23	IKZF1	chr15:75417442-75417980	GM12878	blood:	n/a	n/a
24	TBL1XR1	chr15:75417625-75417973	GM12878	blood:	n/a	n/a
25	EP300	chr15:75417441-75417985	GM12878	blood:	n/a	n/a
26	TRIM28	chr15:75417668-75417939	K562	blood:	n/a	n/a
27	JUND	chr15:75417200-75417977	K562	blood:	n/a	n/a
28	BHLHE40	chr15:75417539-75418047	GM12878	blood:	n/a	n/a
29	STAT2	chr15:75417357-75418017	K562	blood:	n/a	chr15:75417780-75417795
30	STAT2	chr15:75417382-75418015	K562	blood:	n/a	chr15:75417780-75417795
31	RCOR1	chr15:75417233-75417984	K562	blood:	n/a	n/a
32	NFIC	chr15:75417603-75417994	ECC-1	luminal epithelium:	n/a	n/a
33	RUNX3	chr15:75417344-75418042	GM12878	blood:	n/a	n/a
34	MEF2C	chr15:75417370-75417953	GM12878	blood:	n/a	chr15:75417691-75417706 chr15:75417429-75417446
35	SIRT6	chr15:75417202-75418030	K562	blood:	n/a	n/a
36	STAT1	chr15:75417499-75418003	Hela-S3	cervix:	n/a	n/a
37	PML	chr15:75417238-75417998	GM12878	blood:	n/a	n/a
38	FOXM1	chr15:75417325-75417986	GM12878	blood:	n/a	n/a
39	STAT5A	chr15:75417442-75417957	GM12878	blood:	n/a	n/a
40	NFIC	chr15:75417249-75417964	GM12878	blood:	n/a	n/a
41	EP300	chr15:75417422-75417957	GM12878	blood:	n/a	n/a
42	MAX	chr15:75417699-75418019	NB4	blood:	n/a	n/a
43	POLR2A	chr15:75417557-75417971	HL-60	blood:	n/a	n/a
44	SPI1	chr15:75417593-75417965	GM12878	blood:	n/a	n/a
45	RAD21	chr15:75417477-75417938	GM12878	blood:	n/a	n/a
46	TEAD4	chr15:75416944-75417978	K562	blood:	n/a	n/a
47	EGR1	chr15:75417716-75417946	K562	blood:	n/a	n/a
48	STAT1	chr15:75417447-75417998	K562	blood:	n/a	n/a
49	POLR2A	chr15:75417432-75417982	HL-60	blood:	n/a	n/a
50	POLR2A	chr15:75417666-75417964	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

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:

No data

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

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs1021382	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10775208	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10851877	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10851878	0.87[ASN][1000 genomes]
rs11072525	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072526	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072528	0.92[ASN][1000 genomes]
rs11638746	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12102035	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12442392	0.92[ASN][1000 genomes]
rs12442410	0.92[ASN][1000 genomes]
rs12910348	0.91[ASN][1000 genomes]
rs12914536	0.92[ASN][1000 genomes]
rs12917185	0.92[ASN][1000 genomes]
rs12917304	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1602360	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1806793	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1806794	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1867147	0.82[EUR][1000 genomes]
rs2029519	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2029520	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2415158	0.91[ASN][1000 genomes]
rs2415159	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28767543	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34511319	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4243032	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4334268	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4421941	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4479194	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4480765	0.91[ASN][1000 genomes]
rs4886420	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4886422	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4886658	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4886661	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4886667	0.92[ASN][1000 genomes]
rs4886668	0.91[ASN][1000 genomes]
rs4886669	0.91[ASN][1000 genomes]
rs55662404	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58201389	0.91[ASN][1000 genomes]
rs59390721	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6495153	0.92[ASN][1000 genomes]
rs6495154	0.92[ASN][1000 genomes]
rs6495155	0.92[ASN][1000 genomes]
rs6495158	0.91[ASN][1000 genomes]
rs7162055	0.92[ASN][1000 genomes]
rs7162376	0.91[ASN][1000 genomes]
rs7163083	0.92[ASN][1000 genomes]
rs7166695	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7168020	0.85[ASN][1000 genomes]
rs7169545	0.92[ASN][1000 genomes]
rs7169867	0.92[ASN][1000 genomes]
rs7172205	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7172677	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7177528	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7178005	0.92[ASN][1000 genomes]
rs7178625	0.92[ASN][1000 genomes]
rs7178784	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7179426	0.92[ASN][1000 genomes]
rs7179436	0.89[EUR][1000 genomes]
rs7181933	0.92[ASN][1000 genomes]
rs72730601	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8025412	0.92[ASN][1000 genomes]
rs8026273	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8027552	0.82[ASN][1000 genomes]
rs8027604	0.91[ASN][1000 genomes]
rs8029756	0.91[ASN][1000 genomes]
rs8029760	0.92[ASN][1000 genomes]
rs8032208	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8033754	0.92[ASN][1000 genomes]
rs8035588	0.84[ASN][1000 genomes]
rs8035789	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs902476	0.83[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:32 , 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	chr15:75415800-75422200	Enhancers	GM12878-XiMat	blood
8	chr15:75416000-75419800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr15:75416000-75420000	Enhancers	Primary B cells from cord blood	blood
10	chr15:75416200-75419000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:75416400-75420400	Enhancers	Hela-S3	cervix
12	chr15:75416400-75421400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:75416400-75424000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr15:75416600-75418600	Enhancers	Primary B cells from peripheral blood	blood
15	chr15:75416600-75422000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:75416800-75418400	Weak transcription	Spleen	Spleen
17	chr15:75416800-75418800	Enhancers	Fetal Muscle Leg	muscle
18	chr15:75417000-75418400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr15:75417000-75419400	Weak transcription	A549	lung
20	chr15:75417000-75422000	Weak transcription	Adipose Nuclei	Adipose
21	chr15:75417000-75422000	Weak transcription	HMEC	breast
22	chr15:75417600-75418400	Weak transcription	Lung	lung
23	chr15:75417600-75418400	Weak transcription	Ovary	ovary
24	chr15:75417600-75419000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr15:75417600-75422000	Weak transcription	Fetal Thymus	thymus
26	chr15:75417600-75423200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr15:75417800-75418200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr15:75417800-75418400	Enhancers	K562	blood
29	chr15:75417800-75421800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr15:75417800-75421800	Weak transcription	HepG2	liver
31	chr15:75417800-75422200	Weak transcription	Colonic Mucosa	Colon
32	chr15:75417800-75430600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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