Variant report

Variant	rs28463224
Chromosome Location	chr15:51605302-51605303
allele	A/T
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	MYC	chr15:51605246-51605526	MCF10A-Er-Src	breast:	n/a	chr15:51605480-51605489 chr15:51605481-51605490
2	FOS	chr15:51605215-51605659	MCF10A-Er-Src	breast:	n/a	chr15:51605480-51605490 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491 chr15:51605354-51605365
3	FOS	chr15:51605184-51605621	HUVEC	blood vessel:	n/a	chr15:51605480-51605490 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491 chr15:51605354-51605365
4	STAT3	chr15:51605253-51605564	MCF10A-Er-Src	breast:	n/a	chr15:51605480-51605489 chr15:51605481-51605490
5	FOS	chr15:51605200-51605634	MCF10A-Er-Src	breast:	n/a	chr15:51605480-51605490 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491 chr15:51605354-51605365
6	JUND	chr15:51605106-51605665	HCT-116	colon:	n/a	chr15:51605480-51605490 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491 chr15:51605479-51605490
7	JUN	chr15:51605255-51605607	HepG2	liver:	n/a	chr15:51605480-51605490 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491
8	SP1	chr15:51605210-51605678	HCT-116	colon:	n/a	n/a
9	STAT3	chr15:51605220-51605571	MCF10A-Er-Src	breast:	n/a	chr15:51605480-51605489 chr15:51605481-51605490
10	STAT3	chr15:51605248-51605568	MCF10A-Er-Src	breast:	n/a	chr15:51605480-51605489 chr15:51605481-51605490
11	JUND	chr15:51605117-51605742	HCT-116	colon:	n/a	chr15:51605480-51605490 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491 chr15:51605479-51605490
12	FOSL2	chr15:51605169-51605689	HepG2	liver:	n/a	chr15:51605480-51605490 chr15:51605478-51605489 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491
13	FOSL2	chr15:51605201-51605702	A549	lung:	n/a	chr15:51605480-51605490 chr15:51605478-51605489 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491
14	FOSL1	chr15:51605284-51605655	HCT-116	colon:	n/a	chr15:51605480-51605490 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491
15	EP300	chr15:51605023-51605625	SK-N-SH_RA	brain:	n/a	chr15:51605480-51605489 chr15:51605481-51605490
16	ARID3A	chr15:51605233-51605633	HepG2	liver:	n/a	n/a
17	FOSL2	chr15:51605198-51605694	HepG2	liver:	n/a	chr15:51605480-51605490 chr15:51605478-51605489 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491
18	STAT3	chr15:51605290-51605481	MCF10A-Er-Src	breast:	n/a	n/a
19	JUND	chr15:51605219-51605658	HepG2	liver:	n/a	chr15:51605480-51605490 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491 chr15:51605479-51605490
20	FOSL1	chr15:51605197-51605713	HCT-116	colon:	n/a	chr15:51605480-51605490 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491
21	FOSL2	chr15:51605121-51605741	MCF-7	breast:	n/a	chr15:51605480-51605490 chr15:51605478-51605489 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491
22	FOSL2	chr15:51605263-51605606	A549	lung:	n/a	chr15:51605480-51605490 chr15:51605478-51605489 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491
23	FOS	chr15:51605176-51605673	MCF10A-Er-Src	breast:	n/a	chr15:51605480-51605490 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491 chr15:51605354-51605365
24	FOS	chr15:51605179-51605673	MCF10A-Er-Src	breast:	n/a	chr15:51605480-51605490 chr15:51605481-51605489 chr15:51605481-51605488 chr15:51605480-51605489 chr15:51605479-51605491 chr15:51605354-51605365
25	POLR2A	chr15:51604412-51605387	HepG2	liver:	n/a	n/a

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:
4	chr15:51604419..51605525-chr15:51673233..51674014,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMXL2-2	chr15:51604424-51605381	NONHSAT043858

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12101420	0.87[AFR][1000 genomes]
rs12101421	0.87[AFR][1000 genomes]
rs28403244	0.87[AFR][1000 genomes]
rs28427432	0.87[AFR][1000 genomes]
rs28430977	0.87[AFR][1000 genomes]
rs28460528	0.87[AFR][1000 genomes]
rs28465243	0.87[AFR][1000 genomes]
rs28524029	0.87[AFR][1000 genomes]
rs28604459	0.87[AFR][1000 genomes]
rs28648895	0.87[AFR][1000 genomes]
rs28685202	0.87[AFR][1000 genomes]
rs28693825	0.87[AFR][1000 genomes]
rs28703085	0.87[AFR][1000 genomes]
rs28730382	0.87[AFR][1000 genomes]
rs28875897	0.87[AFR][1000 genomes]
rs74013181	0.87[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51592200-51615000	Weak transcription	Spleen	Spleen
2	chr15:51600400-51614200	Weak transcription	Right Atrium	heart
3	chr15:51601400-51605800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:51601800-51607600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr15:51602000-51605400	Enhancers	NHDF-Ad	bronchial
6	chr15:51602000-51605600	Enhancers	Osteobl	bone
7	chr15:51602000-51605800	Enhancers	NHLF	lung
8	chr15:51602000-51607200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:51602400-51606800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr15:51603000-51610400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr15:51603200-51606200	Weak transcription	Right Ventricle	heart
12	chr15:51603600-51605600	Enhancers	Fetal Lung	lung
13	chr15:51603600-51612600	Enhancers	Fetal Intestine Small	intestine
14	chr15:51603800-51605400	Genic enhancers	Placenta	Placenta
15	chr15:51603800-51605400	Enhancers	Fetal Stomach	stomach
16	chr15:51603800-51605400	Flanking Active TSS	HepG2	liver
17	chr15:51603800-51605600	Enhancers	Fetal Muscle Leg	muscle
18	chr15:51604000-51605400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:51604000-51612200	Enhancers	Fetal Intestine Large	intestine
20	chr15:51604200-51605400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr15:51604200-51605600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:51604200-51605600	Enhancers	NH-A	brain
23	chr15:51604200-51607600	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr15:51604200-51609000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:51604400-51605800	Enhancers	HMEC	breast
26	chr15:51604600-51605400	Enhancers	NHEK	skin
27	chr15:51604600-51605600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:51604800-51605400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr15:51604800-51605600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:51604800-51605600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr15:51605000-51605600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr15:51605000-51615200	Weak transcription	Left Ventricle	heart
33	chr15:51605200-51605400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr15:51605200-51610600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr15:51605200-51610600	Weak transcription	Fetal Muscle Trunk	muscle

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