Variant report

Variant	rs28757083
Chromosome Location	chr15:51615563-51615564
allele	C/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	POLR2A	chr15:51614788-51615575	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:51598697..51600244-chr15:51613341..51616077,2	MCF-7	breast:
2	chr15:51611239..51613375-chr15:51613422..51615805,2	MCF-7	breast:
3	chr15:51613759..51616102-chr15:51624474..51626897,2	K562	blood:

Variant related genes	Relation type
CYP19A1	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12592133	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs12592656	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12592672	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1870050	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs1902583	0.82[ASN][1000 genomes]
rs2271677	1.00[GIH][hapmap]
rs2289104	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs2445762	0.82[CHB][hapmap]
rs2445771	0.93[CHB][hapmap];0.85[JPT][hapmap]
rs2446422	0.80[ASN][1000 genomes]
rs2470150	0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs28757078	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28757101	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs28892002	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34203233	0.97[ASN][1000 genomes]
rs4775938	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57553630	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57680853	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57841516	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs748838	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs868475	0.88[CHB][hapmap];0.86[JPT][hapmap]

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	chr15:51607600-51617400	Weak transcription	Pancreas	Pancrea
2	chr15:51609000-51617600	Genic enhancers	Placenta	Placenta
3	chr15:51609600-51621000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:51611200-51617200	Weak transcription	Brain Substantia Nigra	brain
5	chr15:51613200-51616000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr15:51613200-51616400	Enhancers	Fetal Muscle Leg	muscle
7	chr15:51613600-51616400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr15:51613600-51616800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr15:51613800-51616200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr15:51613800-51616400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:51614200-51615600	Enhancers	Osteobl	bone
12	chr15:51614200-51615800	Enhancers	Fetal Muscle Trunk	muscle
13	chr15:51614200-51616000	Enhancers	Adipose Nuclei	Adipose
14	chr15:51614200-51616000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr15:51614200-51616000	Enhancers	Stomach Smooth Muscle	stomach
16	chr15:51614200-51616400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:51614400-51615600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:51614600-51615800	Weak transcription	Lung	lung
19	chr15:51614800-51615600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr15:51614800-51615800	Enhancers	HepG2	liver
21	chr15:51614800-51616000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr15:51614800-51616200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr15:51614800-51616400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:51615000-51615600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr15:51615000-51616000	Enhancers	Spleen	Spleen
26	chr15:51615200-51616000	Enhancers	Left Ventricle	heart
27	chr15:51615200-51616000	Enhancers	Right Ventricle	heart
28	chr15:51615200-51617400	Weak transcription	Brain Hippocampus Middle	brain
29	chr15:51615400-51616000	Enhancers	Right Atrium	heart

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