Variant report

Variant	rs8028557
Chromosome Location	chr15:74289682-74289683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr15:74289309-74289743	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:74286936-74291631	K562	blood:	n/a	n/a
3	IKZF1	chr15:74289345-74289798	GM12878	blood:	n/a	n/a
4	IRF1	chr15:74288413-74289767	K562	blood:	n/a	n/a
5	GATA2	chr15:74289388-74289930	HUVEC	blood vessel:	n/a	n/a
6	MAX	chr15:74289422-74289695	NB4	blood:	n/a	n/a
7	POLR2A	chr15:74289182-74290009	HUVEC	blood vessel:	n/a	n/a
8	IRF1	chr15:74288606-74290120	K562	blood:	n/a	n/a
9	POLR2A	chr15:74289265-74289759	PFSK-1	brain:	n/a	n/a
10	MYC	chr15:74289446-74289725	NB4	blood:	n/a	n/a
11	POLR2A	chr15:74289299-74289816	MCF10A-Er-Src	breast:	n/a	n/a
12	MXI1	chr15:74289284-74289687	GM12878	blood:	n/a	n/a
13	RUNX3	chr15:74289148-74289863	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74281335..74284539-chr15:74284801..74290369,7	MCF-7	breast:
2	chr15:74286840..74288514-chr15:74288531..74291100,2	MCF-7	breast:

No data

Variant related genes	Relation type
PML	TF binding region
STOML1	TF binding region
ENSG00000140464	Chromatin interaction
ENSG00000067221	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10162627	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1052242	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1052246	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10851866	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10851867	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10851868	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11072458	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11072461	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11072462	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11072463	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072464	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11072465	0.85[AMR][1000 genomes]
rs11072466	0.85[AMR][1000 genomes]
rs11072467	0.85[AMR][1000 genomes]
rs11072469	0.82[AMR][1000 genomes]
rs11633520	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11633735	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11635930	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636016	0.80[AMR][1000 genomes]
rs11636065	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11636150	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11854321	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11857498	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592370	0.85[AMR][1000 genomes]
rs12593528	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12901603	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12902857	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12902945	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12904213	0.86[AMR][1000 genomes]
rs12908748	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12910581	0.85[AMR][1000 genomes]
rs12911807	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12911984	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12917179	0.83[AMR][1000 genomes]
rs2165242	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2277599	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2304715	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2304716	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2304717	0.81[AMR][1000 genomes]
rs2304718	0.81[AMR][1000 genomes]
rs3784561	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784562	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4287518	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4547288	0.93[ASN][1000 genomes]
rs4886820	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4886844	0.86[AMR][1000 genomes]
rs4886845	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4886846	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56194867	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183908	0.84[ASN][1000 genomes]
rs734854	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs743580	0.89[ASN][1000 genomes]
rs752004	0.88[ASN][1000 genomes]
rs8027327	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8027447	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8027774	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8038991	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8039276	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8039404	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8043489	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9479	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74286200-74290000	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr15:74286400-74289800	Active TSS	Psoas Muscle	Psoas
3	chr15:74286400-74290200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:74286600-74289800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:74286600-74289800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:74286600-74289800	Active TSS	Right Ventricle	heart
7	chr15:74286600-74290000	Active TSS	Fetal Kidney	kidney
8	chr15:74286600-74290000	Active TSS	Right Atrium	heart
9	chr15:74286600-74290000	Active TSS	NHDF-Ad	bronchial
10	chr15:74286800-74289800	Active TSS	GM12878-XiMat	blood
11	chr15:74286800-74290000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:74286800-74290000	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr15:74287400-74290000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr15:74287400-74290200	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr15:74287400-74290200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:74287400-74290200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:74287600-74290000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:74287600-74290000	Flanking Active TSS	Dnd41	blood
19	chr15:74287800-74290000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr15:74287800-74290200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:74287800-74290200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:74288000-74290000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:74288000-74290000	Weak transcription	Spleen	Spleen
24	chr15:74288000-74290200	Weak transcription	Gastric	stomach
25	chr15:74288000-74290200	Weak transcription	Lung	lung
26	chr15:74288000-74290200	Active TSS	Stomach Smooth Muscle	stomach
27	chr15:74288000-74290200	Enhancers	HepG2	liver
28	chr15:74288000-74290400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:74288000-74290400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr15:74288000-74290400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:74288000-74290400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:74288000-74290400	Weak transcription	Pancreas	Pancrea
33	chr15:74288200-74290000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr15:74288200-74290000	Enhancers	Stomach Mucosa	stomach
35	chr15:74288200-74290200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:74288200-74290200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:74288200-74290200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr15:74288200-74290200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:74288200-74290200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:74288200-74290200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr15:74288200-74290400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr15:74288200-74290600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr15:74288200-74290600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr15:74288200-74290800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr15:74288200-74291000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:74288200-74301800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr15:74288200-74303000	Weak transcription	A549	lung
48	chr15:74288200-74303800	Weak transcription	Brain Angular Gyrus	brain
49	chr15:74288200-74331000	Weak transcription	Fetal Heart	heart
50	chr15:74288400-74290200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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