Variant report

Variant	rs60525483
Chromosome Location	chr15:52443157-52443158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:52438653..52441252-chr15:52442055..52444033,2	MCF-7	breast:
2	chr15:52427594..52429729-chr15:52442055..52444026,2	K562	blood:
3	chr15:52310489..52312428-chr15:52441270..52443572,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259438	Chromatin interaction
ENSG00000069956	Chromatin interaction
ENSG00000069966	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10152503	0.84[AFR][1000 genomes]
rs10220835	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55678152	1.00[AMR][1000 genomes]
rs56254654	1.00[AMR][1000 genomes]
rs56709149	1.00[AMR][1000 genomes]
rs56783306	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59415316	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59694167	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59987655	1.00[AMR][1000 genomes]
rs74015611	1.00[AMR][1000 genomes]
rs74015613	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015616	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv833005	chr15:52389869-52541330	Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1047647	chr15:52425879-52469181	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52422600-52457600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:52423000-52458200	Weak transcription	Dnd41	blood
3	chr15:52429000-52446400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:52429000-52447200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr15:52429200-52447400	Strong transcription	Primary T cells from cord blood	blood
6	chr15:52429800-52470200	Weak transcription	Fetal Brain Male	brain
7	chr15:52430000-52445800	Weak transcription	Small Intestine	intestine
8	chr15:52430200-52444800	Weak transcription	Left Ventricle	heart
9	chr15:52430200-52446600	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr15:52430200-52457800	Weak transcription	Fetal Intestine Large	intestine
11	chr15:52431000-52446200	Strong transcription	Primary B cells from cord blood	blood
12	chr15:52431400-52446600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr15:52432200-52445400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:52432200-52453800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr15:52432200-52455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:52432200-52455200	Weak transcription	Colonic Mucosa	Colon
17	chr15:52434800-52446400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr15:52435000-52446600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:52435400-52444200	Strong transcription	Fetal Stomach	stomach
20	chr15:52435400-52445600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:52435400-52446200	Strong transcription	Brain Germinal Matrix	brain
22	chr15:52435400-52446200	Strong transcription	Fetal Brain Female	brain
23	chr15:52435600-52445600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:52435800-52443800	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr15:52435800-52445800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:52436000-52444000	Strong transcription	Liver	Liver
27	chr15:52436000-52445600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:52436600-52444200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr15:52436800-52446400	Weak transcription	Placenta	Placenta
30	chr15:52436800-52457200	Weak transcription	GM12878-XiMat	blood
31	chr15:52437200-52444000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:52437200-52444200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:52437200-52445400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:52437200-52456800	Weak transcription	HSMM	muscle
35	chr15:52437400-52443600	Weak transcription	HUVEC	blood vessel
36	chr15:52437400-52444400	Weak transcription	Osteobl	bone
37	chr15:52437400-52445000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr15:52437400-52445600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:52437400-52446800	Weak transcription	HSMMtube	muscle
40	chr15:52437400-52454000	Weak transcription	NH-A	brain
41	chr15:52437400-52454400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr15:52437800-52444000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:52437800-52444000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:52437800-52463600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr15:52438000-52455000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:52438400-52444400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr15:52438400-52445600	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr15:52438400-52446400	Strong transcription	Ovary	ovary
49	chr15:52438600-52443600	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr15:52438600-52446200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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