Variant report

Variant	rs28393393
Chromosome Location	chr15:51604369-51604370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr15:51603809-51604753	HepG2	liver:	n/a	n/a
2	TEAD4	chr15:51604233-51604792	HepG2	liver:	n/a	n/a
3	POLR2A	chr15:51603842-51605097	HepG2	liver:	n/a	n/a
4	FOXA1	chr15:51604256-51604824	HepG2	liver:	n/a	n/a
5	FOXA1	chr15:51604218-51604781	HepG2	liver:	n/a	n/a
6	HDAC2	chr15:51604366-51604743	HepG2	liver:	n/a	n/a
7	ARID3A	chr15:51604278-51604878	HepG2	liver:	n/a	n/a
8	FOXA1	chr15:51604257-51604849	HepG2	liver:	n/a	n/a
9	SP1	chr15:51604254-51604723	HepG2	liver:	n/a	n/a
10	EP300	chr15:51604356-51604779	HepG2	liver:	n/a	n/a
11	EP300	chr15:51604359-51604728	HepG2	liver:	n/a	n/a
12	JUN	chr15:51604352-51604789	HepG2	liver:	n/a	chr15:51604603-51604616
13	EP300	chr15:51604274-51604814	HepG2	liver:	n/a	n/a
14	FOXA1	chr15:51604267-51604726	HepG2	liver:	n/a	n/a
15	RFX5	chr15:51604363-51604627	HepG2	liver:	n/a	n/a
16	MYBL2	chr15:51604219-51604868	HepG2	liver:	n/a	n/a
17	CEBPB	chr15:51604325-51604800	HepG2	liver:	n/a	n/a
18	POLR2A	chr15:51604343-51604613	HepG2	liver:	n/a	n/a
19	CHD2	chr15:51604341-51604547	HepG2	liver:	n/a	n/a
20	MYBL2	chr15:51604214-51604800	HepG2	liver:	n/a	n/a
21	HNF4A	chr15:51604342-51604762	HepG2	liver:	n/a	chr15:51604485-51604500
22	KAP1	chr15:51604300-51604912	HEK293	kidney:	n/a	n/a
23	KAP1	chr15:51603676-51605058	U2OS	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51599748..51602219-chr15:51603631..51606239,3	MCF-7	breast:
2	chr15:51593479..51595347-chr15:51604166..51606000,2	K562	blood:
3	chr15:51603694..51605773-chr15:51607770..51610664,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259306	TF binding region
ENSG00000259306	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12101420	0.85[AFR][1000 genomes]
rs12101421	0.85[AFR][1000 genomes]
rs28367445	1.00[AFR][1000 genomes]
rs28403244	0.85[AFR][1000 genomes]
rs28427432	0.85[AFR][1000 genomes]
rs28430977	0.85[AFR][1000 genomes]
rs28460528	0.85[AFR][1000 genomes]
rs28465243	0.85[AFR][1000 genomes]
rs28524029	0.85[AFR][1000 genomes]
rs28604459	0.85[AFR][1000 genomes]
rs28648895	0.85[AFR][1000 genomes]
rs28685202	0.85[AFR][1000 genomes]
rs28693825	0.85[AFR][1000 genomes]
rs28703085	0.85[AFR][1000 genomes]
rs28730382	0.85[AFR][1000 genomes]
rs28875897	0.85[AFR][1000 genomes]
rs74013181	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv904215	chr15:51542193-51673125	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51591800-51604600	Weak transcription	Gastric	stomach
2	chr15:51592200-51615000	Weak transcription	Spleen	Spleen
3	chr15:51600400-51604800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:51600400-51614200	Weak transcription	Right Atrium	heart
5	chr15:51600600-51604400	Weak transcription	HMEC	breast
6	chr15:51601400-51605800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:51601800-51607600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:51602000-51605400	Enhancers	NHDF-Ad	bronchial
9	chr15:51602000-51605600	Enhancers	Osteobl	bone
10	chr15:51602000-51605800	Enhancers	NHLF	lung
11	chr15:51602000-51607200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:51602400-51606800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr15:51602600-51605000	Enhancers	Left Ventricle	heart
14	chr15:51603000-51610400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:51603200-51606200	Weak transcription	Right Ventricle	heart
16	chr15:51603600-51605600	Enhancers	Fetal Lung	lung
17	chr15:51603600-51612600	Enhancers	Fetal Intestine Small	intestine
18	chr15:51603800-51605400	Genic enhancers	Placenta	Placenta
19	chr15:51603800-51605400	Enhancers	Fetal Stomach	stomach
20	chr15:51603800-51605400	Flanking Active TSS	HepG2	liver
21	chr15:51603800-51605600	Enhancers	Fetal Muscle Leg	muscle
22	chr15:51604000-51605000	Enhancers	Stomach Mucosa	stomach
23	chr15:51604000-51605400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:51604000-51612200	Enhancers	Fetal Intestine Large	intestine
25	chr15:51604200-51605400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr15:51604200-51605600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:51604200-51605600	Enhancers	NH-A	brain
28	chr15:51604200-51607600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr15:51604200-51609000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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