Variant report

Variant	rs7173128
Chromosome Location	chr15:78327269-78327270
allele	A/G
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	SPI1	chr15:78326786-78327427	HL-60	blood:	n/a	chr15:78326954-78326967
2	SPI1	chr15:78326737-78327290	GM12891	blood:	n/a	chr15:78326954-78326967
3	RFX5	chr15:78326845-78327347	GM12878	blood:	n/a	n/a
4	NFIC	chr15:78326663-78327431	GM12878	blood:	n/a	n/a
5	MAX	chr15:78326243-78328842	NB4	blood:	n/a	chr15:78326421-78326432 chr15:78326515-78326524
6	SPI1	chr15:78326905-78327298	GM12878	blood:	n/a	chr15:78326954-78326967
7	MAX	chr15:78326755-78327458	GM12878	blood:	n/a	n/a
8	ELF1	chr15:78326712-78327412	GM12878	blood:	n/a	n/a
9	MAZ	chr15:78326834-78327488	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:78326599-78328151	HL-60	blood:	n/a	n/a
11	EP300	chr15:78326861-78327562	GM12878	blood:	n/a	chr15:78327149-78327158
12	KAP1	chr15:78326779-78327312	HEK293	kidney:	n/a	n/a
13	RELA	chr15:78326745-78327888	GM18951	blood:	n/a	n/a
14	RUNX3	chr15:78326677-78327945	GM12878	blood:	n/a	chr15:78327781-78327790 chr15:78327781-78327790
15	POLR2A	chr15:78326750-78327414	HL-60	blood:	n/a	n/a
16	MTA3	chr15:78326588-78327904	GM12878	blood:	n/a	n/a
17	WRNIP1	chr15:78326729-78327549	GM12878	blood:	n/a	n/a
18	BHLHE40	chr15:78326228-78327424	GM12878	blood:	n/a	n/a
19	MYC	chr15:78326363-78328390	NB4	blood:	n/a	chr15:78326421-78326432 chr15:78326515-78326524
20	EBF1	chr15:78326577-78327607	GM12878	blood:	n/a	n/a
21	SIN3A	chr15:78326899-78327520	GM12878	blood:	n/a	n/a
22	CEBPB	chr15:78326889-78327330	IMR90	lung:	n/a	n/a
23	BCLAF1	chr15:78326718-78327461	GM12878	blood:	n/a	n/a
24	RELA	chr15:78326751-78327515	GM19099	blood:	n/a	n/a
25	SPI1	chr15:78326795-78327281	GM12891	blood:	n/a	chr15:78326954-78326967
26	ATF2	chr15:78326696-78327362	GM12878	blood:	n/a	n/a
27	RUNX3	chr15:78326657-78328036	GM12878	blood:	n/a	chr15:78327781-78327790 chr15:78327781-78327790
28	BATF	chr15:78326756-78327305	GM12878	blood:	n/a	n/a
29	MXI1	chr15:78326728-78327573	GM12878	blood:	n/a	n/a
30	IKZF1	chr15:78326665-78327366	GM12878	blood:	n/a	n/a
31	MAFK	chr15:78327196-78328340	IMR90	lung:	n/a	chr15:78327939-78327954 chr15:78327989-78328004

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:

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

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1004855	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10519181	1.00[CHB][hapmap];0.95[CHD][hapmap]
rs11072716	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs11631578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11634607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11638311	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11852768	0.86[ASN][1000 genomes]
rs12148365	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs12442213	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12591418	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12594823	0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs12899061	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12901812	0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12907701	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12907814	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12911332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12916362	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1348257	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs1442293	1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs17477813	0.88[CEU][hapmap];0.86[MEX][hapmap]
rs1837913	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs1992470	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs2028546	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2044099	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs2241885	0.90[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2867985	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2903702	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs3803380	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs4316722	0.83[ASW][hapmap]
rs4395040	1.00[CHB][hapmap];0.93[CHD][hapmap]
rs4886553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886555	0.83[ASN][1000 genomes]
rs4886994	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886995	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs4886996	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4887000	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4887003	0.83[ASW][hapmap]
rs55704745	0.92[ASN][1000 genomes]
rs56317829	0.81[ASN][1000 genomes]
rs57220134	0.84[ASN][1000 genomes]
rs58578288	0.85[ASN][1000 genomes]
rs62011511	0.85[ASN][1000 genomes]
rs7166819	0.86[ASN][1000 genomes]
rs7170746	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7174489	0.90[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7181594	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8029562	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8030713	0.84[ASN][1000 genomes]
rs8030873	0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9047	0.83[ASN][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	chr15:78309200-78330200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:78309200-78330800	Weak transcription	A549	lung
8	chr15:78309200-78354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:78313000-78327600	Weak transcription	Fetal Brain Male	brain
10	chr15:78316000-78332400	Weak transcription	Hela-S3	cervix
11	chr15:78317000-78327800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr15:78317000-78344400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr15:78317400-78342600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:78317600-78327400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:78317800-78331000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:78317800-78344400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr15:78317800-78344400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:78320200-78327600	Weak transcription	Fetal Brain Female	brain
19	chr15:78320200-78334400	Weak transcription	Aorta	Aorta
20	chr15:78320400-78331800	Weak transcription	Esophagus	oesophagus
21	chr15:78321200-78343800	Weak transcription	NHEK	skin
22	chr15:78322200-78336600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr15:78322200-78341000	Weak transcription	Brain Germinal Matrix	brain
24	chr15:78322400-78336600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr15:78323200-78327400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:78324000-78332200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr15:78324400-78330400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr15:78324600-78327400	Weak transcription	Right Ventricle	heart
29	chr15:78324600-78328400	Enhancers	Primary B cells from peripheral blood	blood
30	chr15:78324600-78334400	Weak transcription	Ovary	ovary
31	chr15:78325600-78337800	Genic enhancers	Fetal Thymus	thymus
32	chr15:78325800-78327400	Enhancers	Primary T cells from cord blood	blood
33	chr15:78325800-78333600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr15:78326000-78327600	Genic enhancers	Dnd41	blood
35	chr15:78326000-78331600	Enhancers	HUVEC	blood vessel
36	chr15:78326200-78327400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:78326200-78327400	Genic enhancers	Rectal Mucosa Donor 31	rectum
38	chr15:78326200-78327800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr15:78326200-78328000	Flanking Active TSS	GM12878-XiMat	blood
40	chr15:78326200-78328400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr15:78326200-78328600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:78326200-78328600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:78326200-78328600	Enhancers	Brain Hippocampus Middle	brain
44	chr15:78326200-78328600	Enhancers	Fetal Kidney	kidney
45	chr15:78326200-78328600	Enhancers	NHDF-Ad	bronchial
46	chr15:78326200-78329000	Enhancers	Brain Substantia Nigra	brain
47	chr15:78326200-78332000	Genic enhancers	Fetal Intestine Small	intestine
48	chr15:78326200-78332800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:78326400-78328400	Genic enhancers	Fetal Stomach	stomach
50	chr15:78326400-78328600	Enhancers	Brain Angular Gyrus	brain

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