Variant report

Variant	rs12592229
Chromosome Location	chr15:75977284-75977285
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75658746..75661779-chr15:75974591..75977413,4	MCF-7	breast:
2	chr15:75746464..75749152-chr15:75974484..75977471,5	MCF-7	breast:
3	chr15:75971018..75973050-chr15:75976828..75979527,2	K562	blood:
4	chr15:75976428..75978953-chr4:105982186..105984226,2	MCF-7	breast:
5	chr15:75977113..75977773-chr15:76094531..76095051,2	MCF-7	breast:
6	chr15:75973092..75975055-chr15:75975527..75978110,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169375	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000140400	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4886454	0.94[ASN][1000 genomes]
rs4886730	0.96[ASN][1000 genomes]
rs61754538	0.94[ASN][1000 genomes]
rs72732862	1.00[ASN][1000 genomes]
rs73441010	0.91[ASN][1000 genomes]
rs8028183	1.00[ASN][1000 genomes]
rs8031394	0.88[ASN][1000 genomes]
rs8041033	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
4	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
6	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
7	esv1813854	chr15:75898640-76002392	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	nsv527186	chr15:75924443-76107730	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
9	nsv904391	chr15:75930757-76001654	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv904392	chr15:75930757-76039262	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
11	nsv904393	chr15:75932177-76001654	Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
12	nsv904394	chr15:75948671-76039262	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv904395	chr15:75957928-75984095	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
14	nsv904396	chr15:75961518-76071105	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
15	nsv569997	chr15:75965169-75991451	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
16	nsv984092	chr15:75970252-76000687	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75965600-75978400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr15:75965800-75986000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:75966400-75979000	Weak transcription	HMEC	breast
4	chr15:75966400-75993200	Weak transcription	Hela-S3	cervix
5	chr15:75966600-75986000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:75966800-75985600	Weak transcription	Osteobl	bone
7	chr15:75968000-75985600	Strong transcription	Fetal Stomach	stomach
8	chr15:75968200-75985800	Weak transcription	Left Ventricle	heart
9	chr15:75968400-75984600	Strong transcription	NHLF	lung
10	chr15:75968400-75985000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:75968400-75985600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:75968600-75978000	Strong transcription	Aorta	Aorta
13	chr15:75968800-75980400	Weak transcription	Brain Substantia Nigra	brain
14	chr15:75968800-75985600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:75969200-75980000	Weak transcription	Lung	lung
16	chr15:75969200-75985800	Weak transcription	Right Atrium	heart
17	chr15:75969600-75987600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:75970000-75980400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:75970000-75985800	Weak transcription	Esophagus	oesophagus
20	chr15:75970600-75985800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:75971600-75977400	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:75972000-75979800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:75973000-75985600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr15:75974800-75977400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:75975000-75978800	Weak transcription	Pancreas	Pancrea
26	chr15:75975000-75980000	Weak transcription	Gastric	stomach
27	chr15:75975000-75980000	Weak transcription	Right Ventricle	heart
28	chr15:75975400-75979800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:75975600-75977400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:75975600-75977400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
31	chr15:75975800-75977800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:75975800-75977800	Flanking Active TSS	HepG2	liver
33	chr15:75975800-75978800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:75975800-75979600	Genic enhancers	Fetal Muscle Trunk	muscle
35	chr15:75975800-75980000	Genic enhancers	Colon Smooth Muscle	Colon
36	chr15:75976000-75986000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:75976000-75986000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr15:75976200-75978400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:75976200-75978400	Weak transcription	Brain Angular Gyrus	brain
40	chr15:75976200-75978400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr15:75976200-75978400	Weak transcription	Fetal Heart	heart
42	chr15:75976200-75985800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:75976200-75985800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr15:75976200-75985800	Weak transcription	Colonic Mucosa	Colon
45	chr15:75976200-75986000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr15:75976400-75977600	Strong transcription	Placenta	Placenta
47	chr15:75976400-75978200	Weak transcription	Stomach Mucosa	stomach
48	chr15:75976600-75977400	Strong transcription	Fetal Lung	lung
49	chr15:75976600-75977600	Strong transcription	NHDF-Ad	bronchial
50	chr15:75976600-75977800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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