Variant report

Variant	rs12594395
Chromosome Location	chr15:51483707-51483708
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51479346..51482032-chr15:51482549..51485110,2	MCF-7	breast:
2	chr15:51482206..51485184-chr15:51497474..51499917,3	MCF-7	breast:
3	chr15:51455156..51457220-chr15:51483555..51485672,2	MCF-7	breast:
4	chr15:51476822..51479125-chr15:51482052..51484475,2	K562	blood:
5	chr15:51483090..51486034-chr15:51487701..51490118,2	K562	blood:
6	chr15:51453550..51456646-chr15:51483594..51486501,4	MCF-7	breast:
7	chr15:51482909..51484620-chr15:51488920..51490947,2	MCF-7	breast:
8	chr15:51452955..51454796-chr15:51482677..51484648,2	MCF-7	breast:

No data

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12441919	0.94[ASN][1000 genomes]
rs12592344	0.98[ASN][1000 genomes]
rs12904291	0.98[ASN][1000 genomes]
rs13353155	0.84[ASN][1000 genomes]
rs1438921	0.94[ASN][1000 genomes]
rs2414094	0.91[ASN][1000 genomes]
rs28591334	0.98[ASN][1000 genomes]
rs2899469	0.86[ASN][1000 genomes]
rs35373992	0.98[ASN][1000 genomes]
rs4551976	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs55658651	0.91[ASN][1000 genomes]
rs55712458	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	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
4	nsv904214	chr15:51204364-51535192	Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049644	chr15:51265447-51560445	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51476600-51485600	Weak transcription	Right Atrium	heart
2	chr15:51479000-51484800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:51479000-51485000	Enhancers	Right Ventricle	heart
4	chr15:51479200-51484600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:51480600-51485000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:51481200-51484600	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:51481800-51483800	Enhancers	Spleen	Spleen
8	chr15:51481800-51484800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:51481800-51485000	Enhancers	Fetal Muscle Leg	muscle
10	chr15:51482000-51484000	Enhancers	Brain Cingulate Gyrus	brain
11	chr15:51482000-51484200	Enhancers	HUVEC	blood vessel
12	chr15:51482000-51485400	Enhancers	Fetal Heart	heart
13	chr15:51482200-51483800	Enhancers	Psoas Muscle	Psoas
14	chr15:51482200-51484200	Enhancers	Left Ventricle	heart
15	chr15:51482200-51484600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr15:51482200-51485600	Enhancers	Fetal Muscle Trunk	muscle
17	chr15:51482400-51484800	Weak transcription	Adipose Nuclei	Adipose
18	chr15:51482400-51484800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr15:51482600-51484400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr15:51482600-51484800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr15:51482600-51485400	Enhancers	Placenta	Placenta
22	chr15:51482800-51484000	Enhancers	Aorta	Aorta
23	chr15:51482800-51484600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr15:51482800-51484800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:51483000-51484400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr15:51483200-51483800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:51483200-51485400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:51483400-51483800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:51483400-51483800	Enhancers	Stomach Mucosa	stomach
30	chr15:51483400-51484000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr15:51483400-51484000	Flanking Active TSS	HepG2	liver
32	chr15:51483400-51484000	Flanking Active TSS	HMEC	breast
33	chr15:51483400-51485200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:51483400-51485200	Enhancers	NHEK	skin
35	chr15:51483600-51483800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:51483600-51483800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr15:51483600-51483800	Active TSS	Brain Anterior Caudate	brain
38	chr15:51483600-51483800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr15:51483600-51484000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr15:51483600-51484000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr15:51483600-51484000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr15:51483600-51484000	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr15:51483600-51484000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr15:51483600-51484000	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr15:51483600-51484000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr15:51483600-51484000	Flanking Active TSS	HSMM	muscle
47	chr15:51483600-51484000	Flanking Active TSS	HSMMtube	muscle
48	chr15:51483600-51484400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr15:51483600-51484400	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr15:51483600-51484400	Weak transcription	Primary B cells from cord blood	blood

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