Variant report

Variant	rs28491820
Chromosome Location	chr15:78327016-78327017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:78326726-78327055	GM12878	blood:	n/a	n/a
2	SPI1	chr15:78326786-78327427	HL-60	blood:	n/a	chr15:78326954-78326967
3	SPI1	chr15:78326737-78327290	GM12891	blood:	n/a	chr15:78326954-78326967
4	CHD1	chr15:78326673-78327127	GM12878	blood:	n/a	n/a
5	RFX5	chr15:78326845-78327347	GM12878	blood:	n/a	n/a
6	NFIC	chr15:78326663-78327431	GM12878	blood:	n/a	n/a
7	MAX	chr15:78326243-78328842	NB4	blood:	n/a	chr15:78326421-78326432 chr15:78326515-78326524
8	SPI1	chr15:78326905-78327298	GM12878	blood:	n/a	chr15:78326954-78326967
9	MAX	chr15:78326755-78327458	GM12878	blood:	n/a	n/a
10	YY1	chr15:78326792-78327120	GM12878	blood:	n/a	n/a
11	ELF1	chr15:78326712-78327412	GM12878	blood:	n/a	n/a
12	MAZ	chr15:78326834-78327488	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:78326599-78328151	HL-60	blood:	n/a	n/a
14	BATF	chr15:78326785-78327067	GM12878	blood:	n/a	n/a
15	EP300	chr15:78326861-78327562	GM12878	blood:	n/a	chr15:78327149-78327158
16	KAP1	chr15:78326779-78327312	HEK293	kidney:	n/a	n/a
17	RELA	chr15:78326745-78327888	GM18951	blood:	n/a	n/a
18	RUNX3	chr15:78326677-78327945	GM12878	blood:	n/a	chr15:78327781-78327790 chr15:78327781-78327790
19	POLR2A	chr15:78326750-78327414	HL-60	blood:	n/a	n/a
20	MTA3	chr15:78326588-78327904	GM12878	blood:	n/a	n/a
21	WRNIP1	chr15:78326729-78327549	GM12878	blood:	n/a	n/a
22	BHLHE40	chr15:78326228-78327424	GM12878	blood:	n/a	n/a
23	EBF1	chr15:78326775-78327087	GM12878	blood:	n/a	n/a
24	NFATC1	chr15:78326707-78327197	GM12878	blood:	n/a	n/a
25	ELK1	chr15:78326755-78327172	GM12878	blood:	n/a	n/a
26	BCL11A	chr15:78326814-78327181	GM12878	blood:	n/a	n/a
27	MYC	chr15:78326363-78328390	NB4	blood:	n/a	chr15:78326421-78326432 chr15:78326515-78326524
28	CHD2	chr15:78326837-78327214	GM12878	blood:	n/a	n/a
29	BCL3	chr15:78326694-78327223	GM12878	blood:	n/a	n/a
30	RCOR1	chr15:78326805-78327155	GM12878	blood:	n/a	n/a
31	TBL1XR1	chr15:78326712-78327232	GM12878	blood:	n/a	n/a
32	FOXM1	chr15:78326727-78327255	GM12878	blood:	n/a	n/a
33	EBF1	chr15:78326577-78327607	GM12878	blood:	n/a	n/a
34	PAX5	chr15:78326590-78327224	GM12878	blood:	n/a	chr15:78326876-78326885
35	STAT3	chr15:78326883-78327208	GM12878	blood:	n/a	n/a
36	SMC3	chr15:78326747-78327188	GM12878	blood:	n/a	chr15:78326756-78326770
37	SIN3A	chr15:78326899-78327520	GM12878	blood:	n/a	n/a
38	CEBPB	chr15:78326889-78327330	IMR90	lung:	n/a	n/a
39	BCLAF1	chr15:78326718-78327461	GM12878	blood:	n/a	n/a
40	CTCF	chr15:78326847-78327064	GM19239	blood:	n/a	n/a
41	CTCF	chr15:78326920-78327070	GM12871	blood:	n/a	n/a
42	RELA	chr15:78326751-78327515	GM19099	blood:	n/a	n/a
43	ZNF263	chr15:78326745-78327181	HEK293-T-REx	kidney:	n/a	chr15:78326959-78326968
44	EP300	chr15:78326851-78327253	GM12878	blood:	n/a	chr15:78327149-78327158
45	PAX5	chr15:78326563-78327173	GM12878	blood:	n/a	chr15:78326876-78326885
46	SPI1	chr15:78326795-78327281	GM12891	blood:	n/a	chr15:78326954-78326967
47	ATF2	chr15:78326696-78327362	GM12878	blood:	n/a	n/a
48	RUNX3	chr15:78326657-78328036	GM12878	blood:	n/a	chr15:78327781-78327790 chr15:78327781-78327790
49	CTCF	chr15:78326890-78327039	Spleen_OC	spleen:	n/a	n/a
50	BATF	chr15:78326756-78327305	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:78327011-78327061	AG04450	lung:	fetal
2	chr15:78327011-78327061	A549	lung:	n/a
3	chr15:78327011-78327061	PFSK-1	brain:	n/a
4	chr15:78327011-78327061	NHDF-neo	bronchial:	n/a
5	chr15:78327011-78327061	HL-60	blood:	n/a
6	chr15:78327011-78327061	GM19239	blood:	n/a
7	chr15:78327011-78327061	H1-hESC	embryonic stem cell:	embryo
8	chr15:78327011-78327061	HRCEpiC	kidney:	n/a
9	chr15:78327011-78327061	U87	brain:	n/a
10	chr15:78327011-78327061	HIPEpiC	eye:	n/a
11	chr15:78327011-78327061	ovcar-3	ovarian:	n/a
12	chr15:78327011-78327061	HCF	heart:	n/a
13	chr15:78327011-78327061	MCF10A-Er-Src	breast:	n/a
14	chr15:78327011-78327061	HNPCEpiC	eye:	n/a
15	chr15:78327011-78327061	BE2_C	brain:	n/a
16	chr15:78327011-78327061	HAEpiC	amniotic membrane:	n/a
17	chr15:78327011-78327061	ProgFib	skin:	n/a
18	chr15:78327011-78327061	SK-N-SH	brain:	n/a
19	chr15:78327011-78327061	GM12878	blood:	n/a
20	chr15:78327011-78327061	HRPEpiC	eye:	n/a
21	chr15:78327011-78327061	Hela-S3	cervix:	n/a
22	chr15:78327011-78327061	Hepatocyte	liver:	n/a
23	chr15:78327011-78327061	AoSMC	blood vessel:	n/a
24	chr15:78327011-78327061	HCM	heart:	n/a
25	chr15:78327011-78327061	AG09309	skin:	n/a
26	chr15:78327011-78327061	AG04449	skin:	fetal
27	chr15:78327011-78327061	GM06990	blood:	n/a
28	chr15:78327011-78327061	HMEC	breast:	n/a
29	chr15:78327011-78327061	IMR90	lung:	fetal
30	chr15:78327011-78327061	RPTEC	kidney:	n/a
31	chr15:78327011-78327061	HEK293	kidney:	embryo
32	chr15:78327011-78327061	HEEpiC	esophagus:	n/a
33	chr15:78327011-78327061	PrEC	prostate:	n/a
34	chr15:78327011-78327061	MCF-7	breast:	n/a
35	chr15:78327011-78327061	GM12892	blood:	n/a
36	chr15:78327011-78327061	Jurkat	blood:	n/a
37	chr15:78327011-78327061	SAEC	small airway:	n/a
38	chr15:78327011-78327061	AG09319	gingival:	n/a
39	chr15:78327011-78327061	NT2-D1	testis:	n/a
40	chr15:78327011-78327061	NH-A	brain:	n/a
41	chr15:78327011-78327061	SK-N-MC	brain:	n/a
42	chr15:78327011-78327061	NB4	blood:	n/a
43	chr15:78327011-78327061	HRE	kidney:	n/a
44	chr15:78327011-78327061	HPAEpiC	pulmonary alveolar:	n/a
45	chr15:78327011-78327061	AG10803	skin:	n/a
46	chr15:78327011-78327061	PANC-1	pancreas:	n/a
47	chr15:78327011-78327061	BJ	skin:	n/a
48	chr15:78327011-78327061	HUVEC	blood vessel:	n/a
49	chr15:78327011-78327061	CMK	blood:	n/a
50	chr15:78327011-78327061	T-47D	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr15:78316593..78318301-chr15:78325230..78327310,2	MCF-7	breast:
2	chr15:78326298..78328930-chr15:78337722..78339392,2	MCF-7	breast:
3	chr15:78326751..78329240-chr15:78339256..78341988,2	K562	blood:
4	chr15:78326771..78328887-chr15:78329964..78334195,3	K562	blood:

No data

Variant related genes	Relation type
MIR1827	TF binding region
MIR1827	CpG island
ENSG00000221476	Chromatin interaction
ENSG00000167202	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10519182	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11629761	0.83[AFR][1000 genomes]
rs11639164	0.91[AFR][1000 genomes]
rs11854491	0.87[AMR][1000 genomes]
rs12102130	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13329101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13329302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16969405	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969407	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969408	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16969424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16969430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16969447	0.86[AFR][1000 genomes]
rs1985487	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28394000	0.91[AFR][1000 genomes]
rs28417785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28441175	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28451835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28470811	0.87[AMR][1000 genomes]
rs28485414	0.83[AFR][1000 genomes]
rs28491609	0.88[AFR][1000 genomes]
rs28519575	0.91[AFR][1000 genomes]
rs28526757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28579273	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28581571	0.93[AFR][1000 genomes]
rs28590577	0.86[AFR][1000 genomes]
rs28591625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28647720	0.93[AFR][1000 genomes]
rs28674965	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55930913	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58247186	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7167778	0.87[AMR][1000 genomes]
rs74027705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027706	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74027709	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74029754	0.87[AMR][1000 genomes]
rs7495639	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9920647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1051558	chr15:78315542-78364947	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78296200-78358200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:78301400-78342200	Weak transcription	HMEC	breast
3	chr15:78303200-78342400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:78305400-78329800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:78307200-78342000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:78308800-78327200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:78309200-78330200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:78309200-78330800	Weak transcription	A549	lung
9	chr15:78309200-78354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:78313000-78327600	Weak transcription	Fetal Brain Male	brain
11	chr15:78316000-78332400	Weak transcription	Hela-S3	cervix
12	chr15:78317000-78327800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:78317000-78344400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr15:78317400-78342600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr15:78317600-78327400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:78317800-78331000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:78317800-78344400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr15:78317800-78344400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:78320200-78327600	Weak transcription	Fetal Brain Female	brain
20	chr15:78320200-78334400	Weak transcription	Aorta	Aorta
21	chr15:78320400-78331800	Weak transcription	Esophagus	oesophagus
22	chr15:78321200-78343800	Weak transcription	NHEK	skin
23	chr15:78322200-78336600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr15:78322200-78341000	Weak transcription	Brain Germinal Matrix	brain
25	chr15:78322400-78327200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:78322400-78336600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:78323200-78327400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:78324000-78327200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr15:78324000-78332200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr15:78324400-78330400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:78324600-78327400	Weak transcription	Right Ventricle	heart
32	chr15:78324600-78328400	Enhancers	Primary B cells from peripheral blood	blood
33	chr15:78324600-78334400	Weak transcription	Ovary	ovary
34	chr15:78325600-78337800	Genic enhancers	Fetal Thymus	thymus
35	chr15:78325800-78327400	Enhancers	Primary T cells from cord blood	blood
36	chr15:78325800-78333600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr15:78326000-78327600	Genic enhancers	Dnd41	blood
38	chr15:78326000-78331600	Enhancers	HUVEC	blood vessel
39	chr15:78326200-78327200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:78326200-78327400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:78326200-78327400	Genic enhancers	Rectal Mucosa Donor 31	rectum
42	chr15:78326200-78327800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr15:78326200-78328000	Flanking Active TSS	GM12878-XiMat	blood
44	chr15:78326200-78328400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr15:78326200-78328600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr15:78326200-78328600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:78326200-78328600	Enhancers	Brain Hippocampus Middle	brain
48	chr15:78326200-78328600	Enhancers	Fetal Kidney	kidney
49	chr15:78326200-78328600	Enhancers	NHDF-Ad	bronchial
50	chr15:78326200-78329000	Enhancers	Brain Substantia Nigra	brain

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