Variant report

Variant	rs28721513
Chromosome Location	chr15:50624327-50624328
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50623934..50627228-chr15:50628513..50630907,3	MCF-7	breast:
2	chr15:50615493..50617182-chr15:50624242..50626311,2	MCF-7	breast:
3	chr15:50622453..50625717-chr15:50625902..50628458,4	MCF-7	breast:
4	chr15:50617729..50624931-chr15:50645125..50648613,9	MCF-7	breast:
5	chr15:50623675..50625479-chr15:50634714..50637148,2	K562	blood:
6	chr15:50619612..50622662-chr15:50623326..50625621,3	MCF-7	breast:
7	chr15:50622418..50625066-chr15:50626622..50629439,3	K562	blood:

Variant related genes	Relation type
ENSG00000104064	Chromatin interaction
ENSG00000244879	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1050571	1.00[ASN][1000 genomes]
rs17416784	1.00[ASN][1000 genomes]
rs3959666	0.83[ASN][1000 genomes]
rs55904120	1.00[ASN][1000 genomes]
rs57520763	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183868	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72737100	1.00[ASN][1000 genomes]
rs72738903	1.00[ASN][1000 genomes]
rs8041257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50580800-50638400	Weak transcription	NHEK	skin
2	chr15:50597000-50628600	Weak transcription	Fetal Stomach	stomach
3	chr15:50600800-50629400	Weak transcription	Placenta	Placenta
4	chr15:50600800-50631200	Weak transcription	Left Ventricle	heart
5	chr15:50600800-50635400	Weak transcription	HepG2	liver
6	chr15:50600800-50641400	Weak transcription	HSMM	muscle
7	chr15:50600800-50641600	Weak transcription	Fetal Kidney	kidney
8	chr15:50600800-50643000	Weak transcription	Fetal Thymus	thymus
9	chr15:50600800-50643400	Weak transcription	Fetal Muscle Leg	muscle
10	chr15:50600800-50644200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:50600800-50644600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:50601000-50627200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr15:50601000-50630400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr15:50601000-50637000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:50601000-50638400	Weak transcription	HUVEC	blood vessel
16	chr15:50601400-50642800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:50602200-50625600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:50608800-50642800	Weak transcription	Hela-S3	cervix
19	chr15:50611200-50640400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:50611200-50641200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:50611400-50626800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr15:50611400-50641200	Weak transcription	Primary T cells from cord blood	blood
23	chr15:50611600-50626800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:50611600-50630600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:50611600-50640000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr15:50611800-50630800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr15:50612400-50628400	Weak transcription	Fetal Intestine Small	intestine
28	chr15:50613600-50633800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr15:50614400-50640800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr15:50615200-50644000	Weak transcription	HSMMtube	muscle
31	chr15:50615800-50640000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr15:50617800-50639200	Weak transcription	Ovary	ovary
33	chr15:50618200-50629000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:50618200-50642400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:50618400-50646000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr15:50618800-50627000	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr15:50620400-50641800	Weak transcription	Adipose Nuclei	Adipose
38	chr15:50621200-50635600	Weak transcription	Liver	Liver
39	chr15:50621200-50646000	Weak transcription	Gastric	stomach
40	chr15:50621400-50638200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr15:50621600-50636000	Weak transcription	Fetal Intestine Large	intestine
42	chr15:50621800-50640800	Weak transcription	Fetal Brain Male	brain
43	chr15:50622000-50629000	Weak transcription	Thymus	Thymus
44	chr15:50622000-50642400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr15:50622800-50640800	Weak transcription	Right Ventricle	heart
46	chr15:50623400-50629000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:50623400-50632000	Weak transcription	K562	blood
48	chr15:50623400-50638200	Weak transcription	A549	lung
49	chr15:50623400-50643000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:50623600-50627000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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